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Artículos de revistas sobre el tema "GGGGCC repeats"

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Autor: Grafiati

Publicado: 7 de julio de 2024

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1

Jiao, Bin, Mengli Wang, Hao Feng, Han Bao, Feiran Zhang, Hao Wu, Junling Wang, Beisha Tang, Peng Jin y Lu Shen. "Downregulation of TOP2 modulates neurodegeneration caused by GGGGCC expanded repeats". Human Molecular Genetics 30, n.º 10 (22 de marzo de 2021): 893–901. http://dx.doi.org/10.1093/hmg/ddab079.

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Abstract GGGGCC repeats in a non-coding region of the C9orf72 gene have been identified as a major genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. We previously showed that the GGGGCC expanded repeats alone were sufficient to cause neurodegeneration in Drosophila. Recent evidence indicates that GGGGCC expanded repeats can modify various gene transcriptomes. To determine the role of these genes in GGGGCC-mediated neurotoxicity, we screened an established Drosophila model expressing GGGGCC expanded repeats in this study. Our results showed that knockdown of the DNA topoisomerase II (Top2) gene can specifically modulate GGGGCC-associated neurodegeneration of the eye. Furthermore, chemical inhibition of Top2 or siRNA-induced Top2 downregulation could alleviate the GGGGCC-mediated neurotoxicity in Drosophila assessed by eye neurodegeneration and locomotion impairment. By contrast, upregulated Top2 levels were detected in Drosophila strains, and moreover, TOP2A level was also upregulated in Neuro-2a cells expressing GGGGCC expanded repeats, as well as in the brains of Sod1G93A model mice. This indicated that elevated levels of TOP2A may be involved in a pathway common to the pathophysiology of distinct ALS forms. Moreover, through RNA-sequencing, a total of 67 genes, involved in the pathways of intracellular signaling cascades, peripheral nervous system development, and others, were identified as potential targets of TOP2A to modulate GGGGCC-mediated neurodegeneration.

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2

Liu, Xiaole, Xinyue Zhao, Jinhan He, Sishi Wang, Xinfei Shen, Qingfeng Liu y Shenlin Wang. "Advances in the Structure of GGGGCC Repeat RNA Sequence and Its Interaction with Small Molecules and Protein Partners". Molecules 28, n.º 15 (1 de agosto de 2023): 5801. http://dx.doi.org/10.3390/molecules28155801.

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The aberrant expansion of GGGGCC hexanucleotide repeats within the first intron of the C9orf72 gene represent the predominant genetic etiology underlying amyotrophic lateral sclerosis (ALS) and frontal temporal dementia (FTD). The transcribed r(GGGGCC)n RNA repeats form RNA foci, which recruit RNA binding proteins and impede their normal cellular functions, ultimately resulting in fatal neurodegenerative disorders. Furthermore, the non-canonical translation of the r(GGGGCC)n sequence can generate dipeptide repeats, which have been postulated as pathological causes. Comprehensive structural analyses of r(GGGGCC)n have unveiled its polymorphic nature, exhibiting the propensity to adopt dimeric, hairpin, or G-quadruplex conformations, all of which possess the capacity to interact with RNA binding proteins. Small molecules capable of binding to r(GGGGCC)n have been discovered and proposed as potential lead compounds for the treatment of ALS and FTD. Some of these molecules function in preventing RNA–protein interactions or impeding the phase transition of r(GGGGCC)n. In this review, we present a comprehensive summary of the recent advancements in the structural characterization of r(GGGGCC)n, its propensity to form RNA foci, and its interactions with small molecules and proteins. Specifically, we emphasize the structural diversity of r(GGGGCC)n and its influence on partner binding. Given the crucial role of r(GGGGCC)n in the pathogenesis of ALS and FTD, the primary objective of this review is to facilitate the development of therapeutic interventions targeting r(GGGGCC)n RNA.

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3

van ‘t Spijker, Heleen M., Emily E. Stackpole, Sandra Almeida, Olga Katsara, Botao Liu, Kuang Shen, Robert J. Schneider, Fen-Biao Gao y Joel D. Richter. "Ribosome profiling reveals novel regulation of C9ORF72 GGGGCC repeat-containing RNA translation". RNA 28, n.º 2 (30 de noviembre de 2021): 123–38. http://dx.doi.org/10.1261/rna.078963.121.

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GGGGCC (G4C2) repeat expansion in the first intron of C9ORF72 causes amyotrophic lateral sclerosis and frontotemporal dementia. Repeat-containing RNA is translated into dipeptide repeat (DPR) proteins, some of which are neurotoxic. Using dynamic ribosome profiling, we identified three translation initiation sites in the intron upstream of (G4C2) repeats; these sites are detected irrespective of the presence or absence of the repeats. During translocation, ribosomes appear to be stalled on the repeats. An AUG in the preceding C9ORF72 exon initiates a uORF that inhibits downstream translation. Polysome isolation indicates that unspliced (G4C2) repeat-containing RNA is a substrate for DPR protein synthesis. (G4C2) repeat-containing RNA translation is 5′ cap-independent but inhibited by the initiation factor DAP5, suggesting an interplay with uORF function. These results define novel translational mechanisms of expanded (G4C2) repeat-containing RNA in disease.

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4

Babić Leko, Mirjana, Vera Župunski, Jason Kirincich, Dinko Smilović, Tibor Hortobágyi, Patrick R. Hof y Goran Šimić. "Molecular Mechanisms of Neurodegeneration Related to C9orf72 Hexanucleotide Repeat Expansion". Behavioural Neurology 2019 (15 de enero de 2019): 1–18. http://dx.doi.org/10.1155/2019/2909168.

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Two clinically distinct diseases, amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), have recently been classified as two extremes of the FTD/ALS spectrum. The neuropathological correlate of FTD is frontotemporal lobar degeneration (FTLD), characterized by tau-, TDP-43-, and FUS-immunoreactive neuronal inclusions. An earlier discovery that a hexanucleotide repeat expansion mutation in chromosome 9 open reading frame 72 (C9orf72) gene causes ALS and FTD established a special subtype of ALS and FTLD with TDP-43 pathology (C9FTD/ALS). Normal individuals carry 2–10 hexanucleotide GGGGCC repeats in the C9orf72 gene, while more than a few hundred repeats represent a risk for ALS and FTD. The proposed molecular mechanisms by which C9orf72 repeat expansions induce neurodegenerative changes are C9orf72 loss-of-function through haploinsufficiency, RNA toxic gain-of-function, and gain-of-function through the accumulation of toxic dipeptide repeat proteins. However, many more cellular processes are affected by pathological processes in C9FTD/ALS, including nucleocytoplasmic transport, RNA processing, normal function of nucleolus, formation of membraneless organelles, translation, ubiquitin proteasome system, Notch signalling pathway, granule transport, and normal function of TAR DNA-binding protein 43 (TDP-43). Although the exact molecular mechanisms through which C9orf72 repeat expansions account for neurodegeneration have not been elucidated, some potential therapeutics, such as antisense oligonucleotides targeting hexanucleotide GGGGCC repeats in mRNA, were successful in preclinical trials and are awaiting phase 1 clinical trials. In this review, we critically discuss each proposed mechanism and provide insight into the most recent studies aiming to elucidate the molecular underpinnings of C9FTD/ALS.

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5

Hatanaka, Yukari, Tomohiro Umeda, Keiko Shigemori, Toshihide Takeuchi, Yoshitaka Nagai y Takami Tomiyama. "C9orf72 Hexanucleotide Repeat Expansion-Related Neuropathology Is Attenuated by Nasal Rifampicin in Mice". Biomedicines 10, n.º 5 (6 de mayo de 2022): 1080. http://dx.doi.org/10.3390/biomedicines10051080.

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The non-coding GGGGCC hexanucleotide repeat expansion (HRE) in C9orf72 gene is a dominant cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). This intronic mutation elicits the formation of nuclear and cytoplasmic inclusions containing RNA, RNA-binding proteins, and HRE-derived dipeptide repeat proteins (DPRs), leading to neurodegeneration via the gain-of-toxic function or loss-of-function of relevant proteins. Using C9-500 mice harboring ~500 repeats of the GGGGCC sequence in human C9orf72 gene, we investigated the effects of rifampicin against HRE-related pathological phenotypes. Rifampicin was administered intranasally to 4.5- to 5-month-old mice for 1 month, and their cognitive function and neuropathology were assessed by the Morris water maze test and immunohistochemical staining. Rifampicin treatment reduced the formation of RNA foci and cytoplasmic inclusions containing DPRs or phosphorylated TDP-43, and furthermore, the levels of phosphorylated double-strand RNA-dependent protein kinase (PKR) that regulates repeat-associated non-ATG (RAN) translation. Synapse loss in the hippocampus and neuronal loss and microglial activation in the prefrontal and motor cortices were also attenuated, and mouse memory was significantly improved. Our findings suggest a therapeutic potential of nasal rifampicin in the prevention of C9orf72-linked neurodegenerative disorders.

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6

Zhang, Yong-Jie, Lin Guo, Patrick K. Gonzales, Tania F. Gendron, Yanwei Wu, Karen Jansen-West, Aliesha D. O’Raw et al. "Heterochromatin anomalies and double-stranded RNA accumulation underlie C9orf72 poly(PR) toxicity". Science 363, n.º 6428 (14 de febrero de 2019): eaav2606. http://dx.doi.org/10.1126/science.aav2606.

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How hexanucleotide GGGGCC (G4C2) repeat expansions in C9orf72 cause frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) is not understood. We developed a mouse model engineered to express poly(PR), a proline-arginine (PR) dipeptide repeat protein synthesized from expanded G4C2 repeats. The expression of green fluorescent protein–conjugated (PR)50 (a 50-repeat PR protein) throughout the mouse brain yielded progressive brain atrophy, neuron loss, loss of poly(PR)-positive cells, and gliosis, culminating in motor and memory impairments. We found that poly(PR) bound DNA, localized to heterochromatin, and caused heterochromatin protein 1α (HP1α) liquid-phase disruptions, decreases in HP1α expression, abnormal histone methylation, and nuclear lamina invaginations. These aberrations of histone methylation, lamins, and HP1α, which regulate heterochromatin structure and gene expression, were accompanied by repetitive element expression and double-stranded RNA accumulation. Thus, we uncovered mechanisms by which poly(PR) may contribute to the pathogenesis of C9orf72-associated FTD and ALS.

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7

Haeusler, Aaron R. "Nucleotide Structural Polymorphisms Formed by GGGGCC Repeats Cause C9orf72 Abortive Transcription and Nucleolar Stress". Biophysical Journal 106, n.º 2 (enero de 2014): 488a. http://dx.doi.org/10.1016/j.bpj.2013.11.4477.

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8

Teng, Ye, Ming Zhu y Zhidong Qiu. "G-quadruplexes in Repeat Expansion Disorders". International Journal of Molecular Sciences 24, n.º 3 (25 de enero de 2023): 2375. http://dx.doi.org/10.3390/ijms24032375.

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The repeat expansions are the main genetic cause of various neurodegeneration diseases. More than ten kinds of repeat sequences with different lengths, locations, and structures have been confirmed in the past two decades. G-rich repeat sequences, such as CGG and GGGGCC, are reported to form functional G-quadruplexes, participating in many important bioprocesses. In this review, we conducted an overview concerning the contribution of G-quadruplex in repeat expansion disorders and summarized related mechanisms in current pathological studies, including the increasing genetic instabilities in replication and transcription, the toxic RNA foci formed in neurons, and the loss/gain function of proteins and peptides. Furthermore, novel strategies targeting G-quadruplex repeats were developed based on the understanding of disease mechanism. Small molecules and proteins binding to G-quadruplex in repeat expansions were investigated to protect neurons from dysfunction and delay the progression of neurodegeneration. In addition, the effects of environment on the stability of G-quadruplex were discussed, which might be critical factors in the pathological study of repeat expansion disorders.

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9

Balendra, Rubika, Igor Ruiz de los Mozos, Hana M. Odeh, Idoia Glaria, Carmelo Milioto, Katherine M. Wilson, Agnieszka M. Ule et al. "Transcriptome-wide RNA binding analysis of C9orf72 poly(PR) dipeptides". Life Science Alliance 6, n.º 9 (12 de julio de 2023): e202201824. http://dx.doi.org/10.26508/lsa.202201824.

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An intronic GGGGCC repeat expansion inC9orf72is a common genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia. The repeats are transcribed in both sense and antisense directions to generate distinct dipeptide repeat proteins, of which poly(GA), poly(GR), and poly(PR) have been implicated in contributing to neurodegeneration. Poly(PR) binding to RNA may contribute to toxicity, but analysis of poly(PR)-RNA binding on a transcriptome-wide scale has not yet been carried out. We therefore performed crosslinking and immunoprecipitation (CLIP) analysis in human cells to identify the RNA binding sites of poly(PR). We found that poly(PR) binds to nearly 600 RNAs, with the sequence GAAGA enriched at the binding sites. In vitro experiments showed that poly(GAAGA) RNA binds poly(PR) with higher affinity than control RNA and induces the phase separation of poly(PR) into condensates. These data indicate that poly(PR) preferentially binds to poly(GAAGA)-containing RNAs, which may have physiological consequences.

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10

Reddy, Kaalak, Monika H. M. Schmidt, Jaimie M. Geist, Neha P. Thakkar, Gagan B. Panigrahi, Yuh-Hwa Wang y Christopher E. Pearson. "Processing of double-R-loops in (CAG)·(CTG) and C9orf72 (GGGGCC)·(GGCCCC) repeats causes instability". Nucleic Acids Research 42, n.º 16 (21 de agosto de 2014): 10473–87. http://dx.doi.org/10.1093/nar/gku658.

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11

Taki, Motahareh, Kushal J. Rohilla, Maria Barton, Madison Funneman, Najiyah Benzabeh, Swati Naphade, Lisa M. Ellerby, Keith T. Gagnon y Mohtashim H. Shamsi. "Novel probes for label-free detection of neurodegenerative GGGGCC repeats associated with amyotrophic lateral sclerosis". Analytical and Bioanalytical Chemistry 411, n.º 26 (21 de agosto de 2019): 6995–7003. http://dx.doi.org/10.1007/s00216-019-02075-8.

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12

Halim, Dilara O., Gopinath Krishnan, Evan P. Hass, Soojin Lee, Mamta Verma, Sandra Almeida, Yuanzheng Gu, Deborah Y. Kwon, Thomas G. Fazzio y Fen-Biao Gao. "The exocyst subunit EXOC2 regulates the toxicity of expanded GGGGCC repeats in C9ORF72-ALS/FTD". Cell Reports 43, n.º 7 (julio de 2024): 114375. http://dx.doi.org/10.1016/j.celrep.2024.114375.

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13

DeJesus-Hernandez, Mariely, Ross A. Aleff, Jazmyne L. Jackson, NiCole A. Finch, Matthew C. Baker, Tania F. Gendron, Melissa E. Murray et al. "Long-read targeted sequencing uncovers clinicopathological associations for C9orf72-linked diseases". Brain 144, n.º 4 (1 de abril de 2021): 1082–88. http://dx.doi.org/10.1093/brain/awab006.

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Abstract To examine the length of a hexanucleotide expansion in C9orf72, which represents the most frequent genetic cause of frontotemporal lobar degeneration and motor neuron disease, we employed a targeted amplification-free long-read sequencing technology: No-Amp sequencing. In our cross-sectional study, we assessed cerebellar tissue from 28 well-characterized C9orf72 expansion carriers. We obtained 3507 on-target circular consensus sequencing reads, of which 814 bridged the C9orf72 repeat expansion (23%). Importantly, we observed a significant correlation between expansion sizes obtained using No-Amp sequencing and Southern blotting (P = 5.0 × 10−4). Interestingly, we also detected a significant survival advantage for individuals with smaller expansions (P = 0.004). Additionally, we uncovered that smaller expansions were significantly associated with higher levels of C9orf72 transcripts containing intron 1b (P = 0.003), poly(GP) proteins (P = 1.3 × 10− 5), and poly(GA) proteins (P = 0.005). Thorough examination of the composition of the expansion revealed that its GC content was extremely high (median: 100%) and that it was mainly composed of GGGGCC repeats (median: 96%), suggesting that expanded C9orf72 repeats are quite pure. Taken together, our findings demonstrate that No-Amp sequencing is a powerful tool that enables the discovery of relevant clinicopathological associations, highlighting the important role played by the cerebellar size of the expanded repeat in C9orf72-linked diseases.

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14

van der Ende, Emma L., Jazmyne L. Jackson, Adrianna White, Harro Seelaar, Marka van Blitterswijk y John C. Van Swieten. "Unravelling the clinical spectrum and the role of repeat length in C9ORF72 repeat expansions". Journal of Neurology, Neurosurgery & Psychiatry 92, n.º 5 (15 de enero de 2021): 502–9. http://dx.doi.org/10.1136/jnnp-2020-325377.

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Since the discovery of the C9orf72 repeat expansion as the most common genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis, it has increasingly been associated with a wider spectrum of phenotypes, including other types of dementia, movement disorders, psychiatric symptoms and slowly progressive FTD. Prompt recognition of patients with C9orf72-associated diseases is essential in light of upcoming clinical trials. The striking clinical heterogeneity associated with C9orf72 repeat expansions remains largely unexplained. In contrast to other repeat expansion disorders, evidence for an effect of repeat length on phenotype is inconclusive. Patients with C9orf72-associated diseases typically have very long repeat expansions, containing hundreds to thousands of GGGGCC-repeats, but smaller expansions might also have clinical significance. The exact threshold at which repeat expansions lead to neurodegeneration is unknown, and discordant cut-offs between laboratories pose a challenge for genetic counselling. Accurate and large-scale measurement of repeat expansions has been severely hindered by technical difficulties in sizing long expansions and by variable repeat lengths across and within tissues. Novel long-read sequencing approaches have produced promising results and open up avenues to further investigate this enthralling repeat expansion, elucidating whether its length, purity, and methylation pattern might modulate clinical features of C9orf72-related diseases.

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15

Satoh, Jun-Ichi, Yoji Yamamoto, Shouta Kitano, Mika Takitani, Naohiro Asahina y Yoshihiro Kino. "Molecular Network Analysis Suggests a Logical Hypothesis for the Pathological Role of C9orf72 in Amyotrophic Lateral Sclerosis/Frontotemporal Dementia". Journal of Central Nervous System Disease 6 (enero de 2014): JCNSD.S18103. http://dx.doi.org/10.4137/jcnsd.s18103.

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Background Expanded GGGGCC hexanucleotide repeats, ranging from hundreds to thousands in number, located in the noncoding region of the chromosome 9 open reading frame 72 ( C9orf72) gene represent the most common genetic abnormality for familial and sporadic amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) (abbreviated as C9ALS). Currently, three pathological mechanisms, such as haplo insufficiency of C9orf72, formation of nuclear RNA foci composed of sense and antisense repeats, and accumulation of unconventionally transcribed dipeptide-repeat (DPR) proteins, are proposed for C9ALS. However, at present, the central mechanism underlying neurodegeneration in C9ALS remains largely unknown. Methods By using three distinct pathway analysis tools of bioinformatics, we studied molecular networks involved in C9ALS pathology by focusing on C9orf72 omics datasets, such as proteome of C9orf72 repeat RNA-binding proteins, transcriptome of induced pluripotent stem cells (iPSC)-derived motor neurons of patients with C9ALS, and transcriptome of purified motor neurons of patients with C9ALS. Results We found that C9orf72 repeat RNA-binding proteins play a crucial role in the regulation of post-transcriptional RNA processing. The expression of a wide range of extracellular matrix proteins and matrix metalloproteinases was reduced in iPSC-derived motor neurons of patients with C9ALS. The regulation of RNA processing and cytoskeletal dynamics is disturbed in motor neurons of patients with C9ALS in vivo. Conclusions Bioinformatics data mining approach suggests a logical hypothesis that C9orf72 repeat expansions that deregulate post-transcriptional RNA processing disturb the homeostasis of cytoskeletal dynamics and remodeling of extracellular matrix, leading to degeneration of stress-vulnerable neurons in the brain and spinal cord of patients with C9ALS.

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16

Cooper-Knock, Johnathan, Joanna J. Bury, Paul R. Heath, Matthew Wyles, Adrian Higginbottom, Catherine Gelsthorpe, J. Robin Highley et al. "C9ORF72 GGGGCC Expanded Repeats Produce Splicing Dysregulation which Correlates with Disease Severity in Amyotrophic Lateral Sclerosis". PLOS ONE 10, n.º 5 (27 de mayo de 2015): e0127376. http://dx.doi.org/10.1371/journal.pone.0127376.

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Shpilyukova, Yu A., E. Yu Fedotova, T. V. Pogoda, N. Yu Abramycheva, A. S. Vetchinova, M. N. Zakharova y S. N. Illarioshkin. "Evaluation of methylation status of the 5’-promoter region of C9orf72 gene in Russian patients with neurodegenerative diseases". Neuromuscular Diseases 8, n.º 2 (20 de julio de 2018): 33–41. http://dx.doi.org/10.17650/2222-8721-2018-8-2-33-41.

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Background. Hexanucleotide repeat expansion in the C9orf72 gene is the most significant cause of a large number of neurodegenerative diseases: frontotemporal degeneration (FTD), amyotrophic lateral sclerosis (ALS), Parkinson’s disease (PD), etc. Several studies have shown the relationship with the neurodegenerative process for full (>40 GGGGCC copies) and intermediate (13–20) repeats expansion. Methylation of the C9orf72 gene can play an important role in the pathogenesis of FTD and ALS, but the mechanism has not been sufficiently studied.The objective is to investigate the status of methylation of the 5’-promotor region of the C9orf72 gene in patients with neurodegenerative disorders having full or intermediate expansion of GGGGCC-repeats.Materials and methods. We investigated the methylation status of the 5’-promoter region of full C9orf72 expansions in FTD/ALS patients (n = 12), of intermediate expansions in Parkinson’s disease patients (n = 8) and of non-expanded alleles in healthy controls (n = 8). Methylation status was determined via sequencing of amplified fragments of bisulfite-converted DNA.Results. We identified two cases (sibling) with the hypermethylation of the 5’-promoter region in the full C9orf72 expansions group. Patient A. (65 years old, male) had an atypical ALS presentation: an onset with head tremor, a long duration of ALS symptoms (9 years at this time), and cognitive impairments with a temporal lobes atrophy. The patient’s sister had a similar clinical phenotype. There were no cases of the promoter hypermethylation in the intermediate and control groups.Conclusion. This is the first data on the 5’-promoter region C9orf72 gene methylation in Russian population. The frequency of the promoter methylation in this group was 9.1 % that consistent with previous studies in other populations. Atypical clinical presentation may indicate a modifying effect of methylation in this area on the ALS phenotype.

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Ormandzhiev, S., T. Todorov, T. Angelov, T. Chamova, V. Mitev, A. Todorova y I. Tournev. "Targeted Screening of the C9orf72 Gene in Bulgarian Amyotrophic Lateral Sclerosis Patients". Acta Medica Bulgarica 49, n.º 1 (1 de abril de 2022): 12–16. http://dx.doi.org/10.2478/amb-2022-0002.

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Abstract Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease, characterized by progressive degeneration of the upper and lower motor neurons, leading to muscle weakness, hypotrophy, swallowing and respiratory failure. The cause of ALS is not yet fully elucidated, but there are 35 associated genes and 2 gene loci with an unidentified gene. The most common are C9orf72, SOD1, TARDBP and FUS found in approximately 10% of patients. Variants in the C9orf72 gene are the main cause of fALS – 25-40% of cases (and a small percentage of sALS). The goal of the present study was to evaluate the significance of the C9orf72 hexanucleotide repeat expansion in Bulgarian patients with ALS, through the means of in house and triplet repeat-primed PCR assay (TP-PCR). From 171 patients diagnosed with ALS and included in the current study, we have identified the repeat expansion with more than 145 GGGGCC repeats in 7 (4,1%). Short expansions or borderline values (24 to 30 repeats) were not detected. Due to absence of sufficient data, we have established an ALS-focused research for the association of the C9orf72 gene in clinically well-characterized Bulgarian ALS patients. Published data show variable percentage ratios for genetically verified cases (4-40%), which is mainly due to small sample counts and sALS-fALS ratios. Our patients’ group also contains sALS and fALS cases, which explains the low percentage of genetic verification. The obtained results enrich the worldwide database and shed light onto genetically characterized Bulgarian ALS patients. Affected patients and their families can receive adequate medical-genetic consultation and prenatal diagnostic testing.

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Shi, Kevin Y., Eiichiro Mori, Zehra F. Nizami, Yi Lin, Masato Kato, Siheng Xiang, Leeju C. Wu et al. "Toxic PRn poly-dipeptides encoded by the C9orf72 repeat expansion block nuclear import and export". Proceedings of the National Academy of Sciences 114, n.º 7 (9 de enero de 2017): E1111—E1117. http://dx.doi.org/10.1073/pnas.1620293114.

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The toxic proline:arginine (PRn) poly-dipeptide encoded by the (GGGGCC)n repeat expansion in the C9orf72 form of heritable amyotrophic lateral sclerosis (ALS) binds to the central channel of the nuclear pore and inhibits the movement of macromolecules into and out of the nucleus. The PRn poly-dipeptide binds to polymeric forms of the phenylalanine:glycine (FG) repeat domain, which is shared by several proteins of the nuclear pore complex, including those in the central channel. A method of chemical footprinting was used to characterize labile, cross-β polymers formed from the FG domain of the Nup54 protein. Mutations within the footprinted region of Nup54 polymers blocked both polymerization and binding by the PRn poly-dipeptide. The aliphatic alcohol 1,6-hexanediol melted FG domain polymers in vitro and reversed PRn-mediated enhancement of the nuclear pore permeability barrier. These data suggest that toxicity of the PRn poly-dipeptide results in part from its ability to lock the FG repeats of nuclear pore proteins in the polymerized state. Our study offers a mechanistic interpretation of PRn poly-dipeptide toxicity in the context of a prominent form of ALS.

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Zhang, Yuan, Christopher Roland y Celeste Sagui. "Structural and Dynamical Characterization of DNA and RNA Quadruplexes Obtained from the GGGGCC and GGGCCT Hexanucleotide Repeats Associated with C9FTD/ALS and SCA36 Diseases". ACS Chemical Neuroscience 9, n.º 5 (27 de diciembre de 2017): 1104–17. http://dx.doi.org/10.1021/acschemneuro.7b00476.

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Kaur, Jaslovleen, Shaista Parveen, Uzma Shamim, Pooja Sharma, Varun Suroliya, Akhilesh Kumar Sonkar, Istaq Ahmad et al. "Investigations of Huntington’s Disease and Huntington’s Disease-Like Syndromes in Indian Choreatic Patients". Journal of Huntington's Disease 9, n.º 3 (8 de octubre de 2020): 283–89. http://dx.doi.org/10.3233/jhd-200398.

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Background: The diagnostic workup for choreiform movement disorders including Huntington’s disease (HD) and those mimicking HD like phenotype is complex. Objective: The aim of the present study was to genetically define HD and HD-like presentations in an Indian cohort. We also describe HTT-CAG expansion manifesting as neuroferritinopathy-like disorder in four families from Punjab in India. Materials and methods: 159 patients clinically diagnosed as HD and HD-like presentations from various tertiary neurology clinics were referred to our centre (CSIR-IGIB) for genetic investigations. As a first tier test, CAG-TNR for HTT was performed and subsequently HD-negative samples were screened for JPH3 (HDL2), TBP (SCA17), ATN1 (DRPLA), PPP2R2B (SCA12) and GGGGCC expansion in C9orf72 gene. Four families presenting as neuroferritinopathy-like disorder were also investigated for HTT-CAG expansion. Results: 94 of 159 (59%) patients were found to have expanded HTT-CAG repeats. Pathogenic repeat expansion in JPH3, TBP, ATN1 and C9orf72 were not found in HD negative cases. Two patients were positive for SCA12-CAG expansion in pathogenic length, whereas 5 cases harboured TBP-CAG repeats falling in reduced penetrance range of 41– 48 repeats for SCA17. Four unrelated families, presented with atypical chorea and brain MRI findings suggestive of basal ganglia abnormalities mimicking neuroferritinopathy were found to harbour HTT-CAG expansion. Conclusion: We present SCA12 as a new reported phenocopy of HD which should be considered for diagnostic workout along with SCA17 for HD-like syndromes. This study also illustrates the necessity, to consider evolving HD like phenotype, as a clinical diagnosis for cases with initial manifestations depicting neuroferritinopathy.

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Hu, Jiaxin, Jing Liu, Liande Li, Keith T. Gagnon y David R. Corey. "Engineering Duplex RNAs for Challenging Targets: Recognition of GGGGCC/CCCCGG Repeats at the ALS/FTD C9orf72 Locus". Chemistry & Biology 22, n.º 11 (noviembre de 2015): 1505–11. http://dx.doi.org/10.1016/j.chembiol.2015.09.016.

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Kitano, Shouta, Yoshihiro Kino, Yoji Yamamoto, Mika Takitani, Junko Miyoshi, Tsuyoshi Ishida, Yuko Saito, Kunimasa Arima y Jun-Ichi Satoh. "Bioinformatics Data Mining Approach Suggests Coexpression of AGTPBP1 with an ALS-linked Gene C9orf72". Journal of Central Nervous System Disease 7 (enero de 2015): JCNSD.S24317. http://dx.doi.org/10.4137/jcnsd.s24317.

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Background Expanded GGGGCC hexanucleotide repeats located in the noncoding region of the chromosome 9 open reading frame 72 ( C9orf72) gene represent the most common genetic abnormality for familial and sporadic amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Formation of nuclear RNA foci, accumulation of repeat-associated non-ATG-translated dipeptide-repeat proteins, and haploinsufficiency of C9orf72 are proposed for pathological mechanisms of C9ALS/FTD. However, at present, the physiological function of C9orf72 remains largely unknown. Methods By searching on a bioinformatics database named COXPRESdb composed of the comprehensive gene coexpression data, we studied potential C9orf72 interactors. Results We identified the ATP/GTP binding protein 1 ( AGTPBP1) gene alternatively named NNA1 encoding a cytosolic carboxypeptidase whose mutation is causative of the degeneration of Purkinje cells and motor neurons as the most significant gene coexpressed with C9orf72. We verified coexpression and interaction of AGTPBP1 and C9orf72 in transfected cells by immunoprecipitation and in neurons of the human brain by double-labeling immunohistochemistry. Furthermore, we found a positive correlation between AGTPBP1 and C9orf72 mRNA expression levels in the set of 21 human brains examined. Conclusions These results suggest that AGTPBP1 serves as a C9orf72 interacting partner that plays a role in the regulation of neuronal function in a coordinated manner within the central nervous system.

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24

Dunn, Ella, Joern R. Steinert, Aelfwin Stone, Virender Sahota, Robin S. B. Williams, Stuart Snowden y Hrvoje Augustin. "Medium-Chain Fatty Acids Rescue Motor Function and Neuromuscular Junction Degeneration in a Drosophila Model of Amyotrophic Lateral Sclerosis". Cells 12, n.º 17 (28 de agosto de 2023): 2163. http://dx.doi.org/10.3390/cells12172163.

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Amyotrophic lateral sclerosis (ALS) is an adult-onset neurodegenerative disease characterised by progressive degeneration of the motor neurones. An expanded GGGGCC (G4C2) hexanucleotide repeat in C9orf72 is the most common genetic cause of ALS and frontotemporal dementia (FTD); therefore, the resulting disease is known as C9ALS/FTD. Here, we employ a Drosophila melanogaster model of C9ALS/FTD (C9 model) to investigate a role for specific medium-chain fatty acids (MCFAs) in reversing pathogenic outcomes. Drosophila larvae overexpressing the ALS-associated dipeptide repeats (DPRs) in the nervous system exhibit reduced motor function and neuromuscular junction (NMJ) defects. We show that two MCFAs, nonanoic acid (NA) and 4-methyloctanoic acid (4-MOA), can ameliorate impaired motor function in C9 larvae and improve NMJ degeneration, although their mechanisms of action are not identical. NA modified postsynaptic glutamate receptor density, whereas 4-MOA restored defects in the presynaptic vesicular release. We also demonstrate the effects of NA and 4-MOA on metabolism in C9 larvae and implicate various metabolic pathways as dysregulated in our ALS model. Our findings pave the way to identifying novel therapeutic targets and potential treatments for ALS.

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25

Božič, Tim, Matja Zalar, Boris Rogelj, Janez Plavec y Primož Šket. "Structural Diversity of Sense and Antisense RNA Hexanucleotide Repeats Associated with ALS and FTLD". Molecules 25, n.º 3 (25 de enero de 2020): 525. http://dx.doi.org/10.3390/molecules25030525.

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The hexanucleotide expansion GGGGCC located in C9orf72 gene represents the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar dementia (FTLD). Since the discovery one of the non-exclusive mechanisms of expanded hexanucleotide G4C2 repeats involved in ALS and FTLD is RNA toxicity, which involves accumulation of pathological sense and antisense RNA transcripts. Formed RNA foci sequester RNA-binding proteins, causing their mislocalization and, thus, diminishing their biological function. Therefore, structures adopted by pathological RNA transcripts could have a key role in pathogenesis of ALS and FTLD. Utilizing NMR spectroscopy and complementary methods, we examined structures adopted by both guanine-rich sense and cytosine-rich antisense RNA oligonucleotides with four hexanucleotide repeats. While both oligonucleotides tend to form dimers and hairpins, the equilibrium of these structures differs with antisense oligonucleotide being more sensitive to changes in pH and sense oligonucleotide to temperature. In the presence of K+ ions, guanine-rich sense RNA oligonucleotide also adopts secondary structures called G-quadruplexes. Here, we also observed, for the first time, that antisense RNA oligonucleotide forms i-motifs under specific conditions. Moreover, simultaneous presence of sense and antisense RNA oligonucleotides promotes formation of heterodimer. Studied structural diversity of sense and antisense RNA transcripts not only further depicts the complex nature of neurodegenerative diseases but also reveals potential targets for drug design in treatment of ALS and FTLD.

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26

Lopez-Gonzalez, Rodrigo, Dejun Yang, Mochtar Pribadi, Tanya S. Kim, Gopinath Krishnan, So Yoen Choi, Soojin Lee, Giovanni Coppola y Fen-Biao Gao. "Partial inhibition of the overactivated Ku80-dependent DNA repair pathway rescues neurodegeneration in C9ORF72-ALS/FTD". Proceedings of the National Academy of Sciences 116, n.º 19 (24 de abril de 2019): 9628–33. http://dx.doi.org/10.1073/pnas.1901313116.

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GGGGCC (G4C2) repeat expansion in C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). One class of major pathogenic molecules in C9ORF72-ALS/FTD is dipeptide repeat proteins such as poly(GR), whose toxicity has been well documented in cellular and animal models. However, it is not known how poly(GR) toxicity can be alleviated, especially in patient neurons. Using Drosophila as a model system in an unbiased genetic screen, we identified a number of genetic modifiers of poly(GR) toxicity. Surprisingly, partial loss of function of Ku80, an essential DNA repair protein, suppressed poly(GR)-induced retinal degeneration in flies. Ku80 expression was greatly elevated in flies expressing poly(GR) and in C9ORF72 iPSC-derived patient neurons. As a result, the levels of phosphorylated ATM and P53 as well as other downstream proapoptotic proteins such as PUMA, Bax, and cleaved caspase-3 were all significantly increased in C9ORF72 patient neurons. The increase in the levels of Ku80 and some downstream signaling proteins was prevented by CRISPR-Cas9-mediated deletion of expanded G4C2 repeats. More importantly, partial loss of function of Ku80 in these neurons through CRISPR/Cas9-mediated ablation or small RNAs-mediated knockdown suppressed the apoptotic pathway. Thus, partial inhibition of the overactivated Ku80-dependent DNA repair pathway is a promising therapeutic approach in C9ORF72-ALS/FTD.

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27

Buchman, Vladimir L., Johnathan Cooper-Knock, Natalie Connor-Robson, Adrian Higginbottom, Janine Kirby, Olga D. Razinskaya, Natalia Ninkina y Pamela J. Shaw. "Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation". Molecular Neurodegeneration 8, n.º 1 (2013): 12. http://dx.doi.org/10.1186/1750-1326-8-12.

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Mori, Kohji, Sven Lammich, Ian R. A. Mackenzie, Ignasi Forné, Sonja Zilow, Hans Kretzschmar, Dieter Edbauer et al. "hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations". Acta Neuropathologica 125, n.º 3 (5 de febrero de 2013): 413–23. http://dx.doi.org/10.1007/s00401-013-1088-7.

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29

Zhang, Yuan, Christopher Roland y Celeste Sagui. "Structure and Dynamics of DNA and RNA Double Helices Obtained from the GGGGCC and CCCCGG Hexanucleotide Repeats That Are the Hallmark of C9FTD/ALS Diseases". ACS Chemical Neuroscience 8, n.º 3 (19 de diciembre de 2016): 578–91. http://dx.doi.org/10.1021/acschemneuro.6b00348.

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30

Freibaum, Brian D., Yubing Lu, Rodrigo Lopez-Gonzalez, Nam Chul Kim, Sandra Almeida, Kyung-Ha Lee, Nisha Badders et al. "GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport". Nature 525, n.º 7567 (26 de agosto de 2015): 129–33. http://dx.doi.org/10.1038/nature14974.

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31

Thys, Ryan Griffin y Yuh-Hwa Wang. "DNA Replication Dynamics of the GGGGCC Repeat of theC9orf72Gene". Journal of Biological Chemistry 290, n.º 48 (13 de octubre de 2015): 28953–62. http://dx.doi.org/10.1074/jbc.m115.660324.

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32

Akimoto, Chizuru, Lars Forsgren, Jan Linder, Anna Birve, Irene Backlund, Jörgen Andersson, Ann-Charloth Nilsson, Helena Alstermark y Peter M. Andersen. "No GGGGCC-hexanucleotide repeat expansion inC9ORF72in parkinsonism patients in Sweden". Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 14, n.º 1 (17 de septiembre de 2012): 26–29. http://dx.doi.org/10.3109/17482968.2012.725415.

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33

Fratta, Pietro, Mark Poulter, Tammaryn Lashley, Jonathan D. Rohrer, James M. Polke, Jon Beck, Natalie Ryan et al. "Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia". Acta Neuropathologica 126, n.º 3 (2 de julio de 2013): 401–9. http://dx.doi.org/10.1007/s00401-013-1147-0.

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34

Ye, Amanda J., W. John Haynes y Daniel P. Romero. "Expression of Mutated Paramecium Telomerase RNAs In Vivo Leads to Templating Errors That Resemble Those Made by Retroviral Reverse Transcriptase". Molecular and Cellular Biology 19, n.º 4 (1 de abril de 1999): 2887–94. http://dx.doi.org/10.1128/mcb.19.4.2887.

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ABSTRACT Telomeric DNA consists of short, tandemly repeated sequences at the ends of chromosomes. Telomeric DNA in the ciliate Paramecium tetraurelia is synthesized by an error-prone telomerase with an RNA template specific for GGGGTT repeats. We have previously shown that misincorporation of TTP residues at the telomerase RNA templating nucleotide C52 accounts for the 30% GGGTTT repeats randomly distributed in wild-type telomeres. To more completely characterize variable repeat synthesis in P. tetraurelia, telomerase RNA genes mutated at C52 (A, U, and G) were expressed in vivo. De novo telomeric repeats from transformants indicate that the predominant TTP misincorporation error seen in the wild-type telomerase is dependent on the presence of a C residue at template position 52. Paradoxically, the effects of various other telomerase RNA template and alignment region mutations on de novo telomeres include significant changes in fidelity, as well as the synthesis of aberrant, 5-nucleotide telomeric repeats. The occurrence of deletion errors and the altered fidelity of mutatedP. tetraurelia telomerase, in conjunction with misincorporation by the wild-type enzyme, suggest that the telomerase RNA template domain may be analogous to homopolymeric mutational hot spots that lead to similar errors by the human immunodeficiency virus proofreading-deficient reverse transcriptase.

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35

Mori, K., S. M. Weng, T. Arzberger, S. May, K. Rentzsch, E. Kremmer, B. Schmid et al. "The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS". Science 339, n.º 6125 (7 de febrero de 2013): 1335–38. http://dx.doi.org/10.1126/science.1232927.

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Zhang, Yun, Junliu Huang, Kainan Yu y Xiaojie Cui. "G-Quadruplexes Formation by the C9orf72 Nucleotide Repeat Expansion d(GGGGCC)n and Conformation Regulation by Fangchinoline". Molecules 28, n.º 12 (9 de junio de 2023): 4671. http://dx.doi.org/10.3390/molecules28124671.

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The G-quadruplex (GQ)-forming hexanucleotide repeat expansion (HRE) in the C9orf72 (C9) gene has been found to be the most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) (collectively, C9ALS/FTD), implying the great significance of modulating C9-HRE GQ structures in C9ALS/FTD therapeutic treatment strategies. In this study, we investigated the GQ structures formed by varied lengths of C9-HRE DNA sequences d(GGGGCC)4 (C9-24mer) and d(GGGGCC)8 (C9-48mer), and found that the C9-24mer forms anti-parallel GQ (AP-GQ) in the presence of potassium ions, while the long C9-48mer bearing eight guanine tracts forms unstacked tandem GQ consisting of two C9-24mer unimolecular AP-GQs. Moreover, the natural small molecule Fangchinoline was screened out in order to be able to stabilize and alter the C9-HRE DNA to parallel GQ topology. Further study of the interaction of Fangchinoline with the C9-HRE RNA GQ unit r(GGGGCC)4 (C9-RNA) revealed that it can also recognize and improve the thermal stability of C9-HRE RNA GQ. Finally, use of AutoDock simulation results indicated that Fangchinoline binds to the groove regions of the parallel C9-HRE GQs. These findings pave the way for further studies of GQ structures formed by pathologically related long C9-HRE sequences, and also provide a natural small-molecule ligand that modulates the structure and stability of C9-HRE GQ, both in DNA and RNA levels. Altogether, this work may contribute to therapeutic approaches of C9ALS/FTD which take the upstream C9-HRE DNA region, as well as the toxic C9-HRE RNA, as targets.

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Tseng, Yi-Ju, Siara N. Sandwith, Katelyn M. Green, Antonio E. Chambers, Amy Krans, Heather M. Raimer, Meredith E. Sharlow et al. "The RNA helicase DHX36–G4R1 modulates C9orf72 GGGGCC hexanucleotide repeat–associated translation". Journal of Biological Chemistry 297, n.º 2 (agosto de 2021): 100914. http://dx.doi.org/10.1016/j.jbc.2021.100914.

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Konno, T., A. Shiga, A. Tsujino, A. Sugai, T. Kato, K. Kanai, A. Yokoseki et al. "Japanese amyotrophic lateral sclerosis patients with GGGGCC hexanucleotide repeat expansion in C9ORF72". Journal of Neurology, Neurosurgery & Psychiatry 84, n.º 4 (25 de septiembre de 2012): 398–401. http://dx.doi.org/10.1136/jnnp-2012-302272.

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Brčić, Jasna y Janez Plavec. "G-quadruplex formation of oligonucleotides containing ALS and FTD related GGGGCC repeat". Frontiers of Chemical Science and Engineering 10, n.º 2 (1 de febrero de 2016): 222–37. http://dx.doi.org/10.1007/s11705-016-1556-4.

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40

He, Hua, Wen Huang, Ruoxi Wang, Yunting Lin, Yichen Guo, Jing Deng, Haitao Deng et al. "Amyotrophic Lateral Sclerosis-associated GGGGCC repeat expansion promotes Tau phosphorylation and toxicity". Neurobiology of Disease 130 (octubre de 2019): 104493. http://dx.doi.org/10.1016/j.nbd.2019.104493.

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41

Lu, Yihuan, Chikara Dohno y Kazuhiko Nakatani. "Recognition of expanded GGGGCC hexanucleotide repeat by synthetic ligand through interhelical binding". Biochemical and Biophysical Research Communications 531, n.º 1 (octubre de 2020): 56–61. http://dx.doi.org/10.1016/j.bbrc.2020.03.107.

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42

Goodman, Lindsey D. y Nancy M. Bonini. "Repeat-associated non-AUG (RAN) translation mechanisms are running into focus for GGGGCC-repeat associated ALS/FTD". Progress in Neurobiology 183 (diciembre de 2019): 101697. http://dx.doi.org/10.1016/j.pneurobio.2019.101697.

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43

Rutherford, Nicola J., Michael G. Heckman, Mariely DeJesus-Hernandez, Matt C. Baker, Alexandra I. Soto-Ortolaza, Sruti Rayaprolu, Heather Stewart et al. "Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype". Neurobiology of Aging 33, n.º 12 (diciembre de 2012): 2950.e5–2950.e7. http://dx.doi.org/10.1016/j.neurobiolaging.2012.07.005.

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44

Zamiri, Bita, Kaalak Reddy, Christopher E. Pearson y Robert B. Macgregor. "The Structure of the Disease-Associated (GGGGCC)N Repeat from the C9ORF72 Gene". Biophysical Journal 106, n.º 2 (enero de 2014): 283a. http://dx.doi.org/10.1016/j.bpj.2013.11.1655.

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ROMERO, DANIEL P. y ELIZABETH H. BLACKBURN. "Circular rDNA Replicons Persist in Tetrahymena thermophila Transformants Synthesizing GGGGTC Telomeric Repeats". Journal of Eukaryotic Microbiology 42, n.º 1 (enero de 1995): 32–43. http://dx.doi.org/10.1111/j.1550-7408.1995.tb01537.x.

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Xu, Z., M. Poidevin, X. Li, Y. Li, L. Shu, D. L. Nelson, H. Li et al. "Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration". Proceedings of the National Academy of Sciences 110, n.º 19 (3 de abril de 2013): 7778–83. http://dx.doi.org/10.1073/pnas.1219643110.

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47

Goodman, Lindsey D., Mercedes Prudencio, Nicholas J. Kramer, Luis F. Martinez-Ramirez, Ananth R. Srinivasan, Matthews Lan, Michael J. Parisi et al. "Toxic expanded GGGGCC repeat transcription is mediated by the PAF1 complex in C9orf72-associated FTD". Nature Neuroscience 22, n.º 6 (20 de mayo de 2019): 863–74. http://dx.doi.org/10.1038/s41593-019-0396-1.

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Shen, Jianying, Yu Zhang, Shi Zhao, Hong Mao, Zhongjing Wang, Honglian Li y Zihui Xu. "Purα Repaired Expanded Hexanucleotide GGGGCC Repeat Noncoding RNA-Caused Neuronal Toxicity in Neuro-2a Cells". Neurotoxicity Research 33, n.º 4 (3 de octubre de 2017): 693–701. http://dx.doi.org/10.1007/s12640-017-9803-0.

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Brčić, Jasna y Janez Plavec. "ALS and FTD linked GGGGCC-repeat containing DNA oligonucleotide folds into two distinct G-quadruplexes". Biochimica et Biophysica Acta (BBA) - General Subjects 1861, n.º 5 (mayo de 2017): 1237–45. http://dx.doi.org/10.1016/j.bbagen.2016.11.018.

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Souza, Paulo Victor Sgobbi de, Wladimir Bocca Vieira de Rezende Pinto y Acary Souza Bulle Oliveira. "C9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseases". Arquivos de Neuro-Psiquiatria 73, n.º 3 (marzo de 2015): 246–56. http://dx.doi.org/10.1590/0004-282x20140229.

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Neurodegenerative diseases represent a heterogeneous group of neurological conditions primarily involving dementia, motor neuron disease and movement disorders. They are mostly related to different pathophysiological processes, notably in family forms in which the clinical and genetic heterogeneity are lush. In the last decade, much knowledge has been acumulated about the genetics of neurodegenerative diseases, making it essential in cases of motor neuron disease and frontotemporal dementia the repeat expansions of C9orf72 gene. This review analyzes the main clinical, radiological and genetic aspects of the phenotypes related to the hexanucleotide repeat expansions (GGGGCC) of C9orf72 gene. Future studies will aim to further characterize the neuropsychological, imaging and pathological aspects of the extra-motor features of motor neuron disease, and will help to provide a new classification system that is both clinically and biologically relevant.

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