Academic literature on the topic 'Hypoplasia cerebellar'

Six dogs with cerebellar dysplasia, in which the cerebellar vermis was hypoplastic, are described. Clinical signs in these dogs were noted around 2 weeks of age and included ataxia, dysmetria, and intention tremors. A variable portion of the caudal cerebellar vermis was absent in each dog; portions of the cerebellar hemispheres and flocculus also were absent in some of them. Neurons in certain brain stem nuclei that project to the cerebellum were either chromatolytic or vacuolated. Cerebellar vermian hypoplasia of dogs is analogous to the Dandy-Walker syndrome of human beings.

Introduction: Pachygyria is a subtype of the lissencephaly spectrum that is secondary to neuronal migration disorders during embryogenesis, it may be associated with other extracortical anomalies such as cerebellar hypoplasia. Lissencephaly with cerebellar hypoplasia is a very rare malformation. In this form we can also observe a tigroid pattern of the white matter. Case Report: We report a very rare case of an infant with pachygyria with cerebellar hypoplasia and a tigroid appearance of the substance secondary to a neuronal migration disorder. Conclusion: Lissencephaly with hypoplasia of the cerebellum is a very rare malformation. The tigroid pattern of the white matter can be observed in neuronal migration disorders. Magnetic resonance imaging (MRI) of the brain is the key examination in the exploration of lissencephaly.

The cerebellum undergoes a protracted development, making it particularly vulnerable to a broad spectrum of developmental events. Acquired destructive and hemorrhagic insults may also occur. The main steps of cerebellar development are reviewed. The normal imaging patterns of the cerebellum in prenatal ultrasound and magnetic resonance imaging (MRI) are described with emphasis on the limitations of these modalities. Because of confusion in the literature regarding the terminology used for cerebellar malformations, some terms (agenesis, hypoplasia, dysplasia, and atrophy) are clarified. Three main pathologic settings are considered and the main diagnoses that can be suggested are described: retrocerebellar fluid enlargement with normal or abnormal biometry (Dandy-Walker malformation, Blake pouch cyst, vermian agenesis), partially or globally decreased cerebellar biometry (cerebellar hypoplasia, agenesis, rhombencephalosynapsis, ischemic and/or hemorrhagic damage), partially or globally abnormal cerebellar echogenicity (ischemic and/or hemorrhagic damage, cerebellar dysplasia, capillary telangiectasia). The appropriate timing for performing MRI is also discussed.

In the study of cerebellar degenerative diseases, morphologic imaging (computed tomography, CT and magnetic resonance imaging, MRI) is the most common examination. From the clinical and genetic point of view, cerebellar degenerative diseases include heterogeneous conditions in which MRI may show isolated cerebellar atrophy or cerebellar atrophy associated with other cerebellar or supratentorial abnormalities. Neuroradiological progression is often observed. In congenital disorders of glycosylation (CDG), for example, MRI may be normal, may demonstrate mild cerebellar atrophy or, in the advanced stages of the disease, marked atrophy of the cerebellar hemispheres and vermis associated with the abnormal signal intensity of the cerebellar cortex and white matter and brainstem hypotrophy. In spinal cerebellar ataxias (SCAs), very rare in the pediatric population, MRI may demonstrate isolated cerebellar atrophy or cerebellar and brainstem atrophy. MRI shows characteristic findings in other diseases, strongly suggesting a distinct disorder, such as neuroaxonal dystrophy, ARSACS, ataxia-telangiectasia, or precise mitochondrial diseases. An example of neurodegenerative disorder with prenatal onset is pontocerebellar hypoplasia (PCH). PCH represents a group of neurodegenerative disorders characterized by microcephaly, early cerebellar hypoplasia, and variable atrophy of the cerebellum and ventral pons, genetically divided into several subtypes. Cerebellar hypoplasia visible on MRI is often the first sign that suggests the clinical diagnosis. In most cases, the PCH subtype may demonstrate a characteristic pattern distinguishable at MRI. Selective involvement of the cerebellum, sometimes accompanied by brainstem or supratentorial abnormalities in different combinations, may help restrict the differential diagnosis and may address the specific molecular screening.

Abstract PRDM13 (PR Domain containing 13) is a putative chromatin modifier and transcriptional regulator that functions downstream of the transcription factor PTF1A. Here, we report a novel, recessive syndrome associated with PRDM13 mutation. Patients exhibited intellectual disability, ataxia with cerebellar hypoplasia, scoliosis and delayed puberty with hypogonadotropic hypogonadism (HH). We investigated the development of hypothalamic neurons and the cerebellum in mice homozygous for a Prdm13 mutant allele. Cerebellar hypoplasia was evident, but male gonadal development appeared unaffected in these mutants. As PTF1A has been linked to early GABAergic neuronal cell fate regulation in the spinal cord, we examined GABAergic neuron progenitor development in the hypothalamus and cerebellum. A significant reduction in the number of Kisspeptin neurons in the hypothalamus and PAX2+ progenitors emerging from the cerebellar ventricular zone was observed. The latter was accompanied by ectopic expression of the glutamatergic lineage marker TLX3. Together, these findings identify PRDM13 as a critical regulator of GABAergic cell fate during neurodevelopment, providing a mechanistic explanation for the co-occurrence of HH and cerebellar hypoplasia in this syndrome. To our knowledge, this is the first evidence linking disrupted regulation of Kiss1 neurons to CHH in humans.

Pontocerebellar hypoplasias are a group of autosomal recessive neurodevelopmetal disorders with varied phenotypic presentations and extensive genetic mutational landscape that are currently classified into ten subtypes. This classification is based predominantly on the genetic iterations as the phenotypic presentations are often broad and overlapping. Pontocerebellar hypoplasia type-3 (PCH3) is an autosomal recessive disorder characterized by a small cerebellar vermis, hyperreflexia, and seizures, described in Middle Eastern families in association with a homozygous truncating mutation of the PCLO gene in locus 7q11-21. This is a case of PCH, with previously unreported novel genetic alterations. The patient is a 1-week-old girl, born at term to a 26-year-old G4P0A3 woman in a nonconsanguinous relation. At birth, the baby was depressed and hypertonic with abnormal tonic-clonic movements of extremities. MRI revealed cerebellar and brainstem hypoplasia. Postmortem examination revealed a palmar simian crease. The cerebellum measured 2.5 cm from side to side and 1 cm from rostral to caudal. The vermis was rudimentary. Sectioning revealed a flattened linear fourth ventricle, scant abortive cerebellar foliae, and a markedly small cerebellum when compared with the cerebrum and with age-matched size. H&E-stained sections of cerebellum revealed scant rudimentary foliae. A rudimentary unilateral embolliform nucleus was identified. The remaining cerebellar nuclei were absent. Chromosomal microarray showed an interstitial duplication of 841 kB on chromosome 7q11.23. Locus 7q11.23 contains FGL2 and GSAP genes and is 5 MB upstream of the 7q11-21 region, suggesting a possible linkage. This novel genomic finding possibly represents a new familial variant of PCH closely associated with PCH-3 and further strengthens its association with the 7q11 locus.

A case of lissencephaly and cerebellar hypoplasia was observed in a 30-day-old goat. The goat presented with sternal recumbence, absence of a menace response, intention tremors, ataxia, and nystagmus. The goat was euthanized and necropsied after having been hospitalised for eleven days. At necropsy, the surface of the brain was found to be smooth, the cerebral sulci and gyri were absent, and the cerebellum was reduced in size. Histologically, the grey matter and white matter were thicker and thinner than normal in cortices, respectively. The neurons were randomly arranged in the grey matter. In the cerebellum, the layers were disorganised, and cells were heterotopics. The histologic and gross lesions observed in this animal are characteristic of lissencephaly associated with cerebellar hypoplasia. The presence of a single goat affected suggests that the malformation was not of infectious origin and because lissencephaly is a malformation not previously described in goats, it is unlikely this case was inherited.

Thesis (M.S.)--University of California, San Diego, 2009.
Title from first page of PDF file (viewed January 9, 2009). Available via ProQuest Digital Dissertations. Includes bibliographical references (p. 25-26).

2010/2011
The hyperbilirubinemic jj Gunn rat is a well established animal model for Crigler-Najjar type I Syndrome and neonatal jaundice. Similarly to humans, they present neurological deficits and what is more a marked cerebellar hypoplasia with a prominent loss and degeneration of Purkinje cells and granule neurons. Since high levels of bilirubin have been proven to arrest the cell cycle progression, we addressed the question if the cerebellar hypoplasia observed in the hyperbilirubinemic Gunn rat could be somehow linked to a cell cycle arrest, and if this cell cycle arrest was affecting selectively primary cultures of astrocytes and cerebellar granule neurons. In the in vivo study we report that the high levels of bilirubin present in the cerebellum of hyperbilirubinemic Gunn rat cause a cell cycle arrest in the late G0/G1 phase, characterized by a decrease in the protein expression of Cyclin D1, Cyclin A, Cyclin A1 and most importantly Cdk2. Meanwhile an increase in protein expression of total Cyclin E, due to a rose in the levels of low molecular weight Cyclin E forms (a supposed attempt to bypass the cell cycle arrest), was in vain. Furthermore, we observed an increment in the 18 kDa fragment of Cyclin E (implicated in the amplification of the apoptotic pathway) suggesting us the presence of an increased apoptosis. Consistent with this speculation, the levels of the cleaved form of Poly (ADP-ribose) Polymerase (PARP-1) were increased. In the in vitro study we support the selectivity of bilirubin to damage specific cells as cerebellar granule neurons. Cerebellar granule cells viability was more affected respect to astrocytes in the same treatment conditions. The cell cycle was affected by high concentration of bilirubin only in cerebellar granule cells. We hypothesised that the characteristic cerebellar hypoplasia of hyperbilirubinemic Gunn rat may be due to the conjunction between cell cycle arrest and apoptosis, and that these two processes are intimately connected. Furthermore, only granule neurons cell cycle was affected. Cryopreservation has been used routinely in prolonged storage of many mammalian tissues. The cryopreservation of neural cells/ tissue started to be interesting after the successful transplantation of such tissues, mainly for research. Several studies have been performed to achieve cryopreservation of granule cells, however, for these cell types there is no defined protocol for cryopreservation with sufficient success to enable it to be incorporated into routine clinical practice. As we were thinking to perform cerebellar granule cells transplantation as a way to treat Gunn rats cerebellar hypoplasia, we started to set up a protocol for cerebellar granule cells cryopreservation using the slow-freezing methodology. Cerebellar granule cells were successfully cryopreserved with a protocol that involves the use of 10 % of DMSO as cryoprotective agent, a freezing rate of 2.1°C/min, and a fast (154.4°C/ min) rewarming at 39°C. The cells cryopreserved in this way had a good cell viability and were kept in culture for 7 days. More experiments have to be made to standardize this protocol.
Il ratto Gunn jj iperbilirubinemico è il modello animale stabilito per il Sindrome di Crigler- Najjar tipo I e il ittero neonatale. Allo stesso modo degli esseri umani, essi presentano deficit neurologici e in più una marcata ipoplasia cerebellare con un’importante perdita e degenerazione delle cellule di Purkinje e delle granulari. Poiché è stato dimostrato che alti livelli di bilirubina arrestano la progressione del ciclo cellulare, abbiamo valutato se l’ipoplasia cerebellare osservata nel ratto Gunn iperbilirubinemico possa essere in qualche modo legata ad un arresto del ciclo cellulare. Per discriminare se l’arresto del ciclo cellulare possa incidere selettivamente su diverse popolazioni cellulari che compongono il tessuto, sono state quindi prodotte e trattate con bilirubina delle colture primarie di astrociti e granulari dal cervelletto. Nello studio in vivo abbiamo rilevato che i livelli elevati di bilirubina presenti nel cervelletto dei ratti Gunn iperbilirubinemici causano un arresto del ciclo cellulare nella fase tardiva G0/ G1, caratterizzata da una diminuzione dell’espressione proteica della Ciclina D1, Ciclina A, Cyclina A1 e soprattutto di Cdk2. Al contrario, abbiamo osservato un aumento dell’espressione proteica della Ciclina E totale. Tale aumento è legato, tuttavia, ad una maggiore espressione delle forme a basso peso molecolare della Ciclina E, note per la loro capacità di attivare e quindi far progredire più rapidamente il ciclo cellulare. Tale effetto non è però presente nel cervelletto del ratto Gunn, come confermato tramite l’analisi del ciclo cellulare eseguita al FACS, che conferma un aumento dell’arresto nella fase tardiva G0/ G1. In aggiunta, abbiamo osservato un incremento nel frammento di 18 kDa della Ciclina E (implicato nella amplificazione della via apoptotica) suggerendo la possibilità di un effetto amplificativo dell’apoptosi. In accordo con questa ipotesi, abbiamo osservato incrementi importanti della forma clivata della Poly (ADP-ribosio) Polimerasi (PARP-1), marker di apoptosi. Nello studio in vitro abbiamo dimostrato un danno selettivo della bilirubina sui neuroni (coltura primaria di granulari) del cervelletto, con una maggiore e più precoce riduzione della vitalità dopo esposizione a bilirubina rispetto alle colture primarie di astrociti dallo stesso 2 tessuto. In aggiunta, abbiamo rilevato come il ciclo cellulare sia stato influenzato (aumento del numero di cellule in G0/ G1) solo nelle cellule granulari. In conseguenza abbiamo ipotizzato che la caratteristica ipoplasia cerebellare osservata nel ratto Gunn iperbilirubinemico può essere dovuta alla congiunzione tra arresto del ciclo cellulare e apoptosi, e che questi due processi sono intimamente connessi attraverso il frammento p18 della Ciclina E. Poiché in vitro le sole granulari hanno subito una perturbazione del ciclo cellulare, è ipotizzabile che l’aumento delle cellule arrestate in tarda G0/G1 osservato in vivo, sia dovuto preferenzialmente all’effetto del pigmento sui neuroni piuttosto che sulla glia. La crioconservazione cellulare è stata utilizzata di routine nello stoccaggio prolungato di molti tessuti di mammiferi. La crioconservazione di cellule/ tessuti neuronali ha iniziato ad acquisire interesse dopo il successo nel trapianto di tali tessuti. Diversi studi sono già stati compiuti per crioconservare cellule granulari, tuttavia, non esiste ancora un protocollo che garantisca una sufficiente efficienza da permettere di essere utilizzato nella pratica clinica. Nell’ipotesi di effettuare il trapianto di cellule granulari di cervelletto come trattamento per la ipoplasia cerebellare osservate nei ratti Gunn, abbiamo iniziato a stabilire un protocollo per la crioconservazione di tali cellule usando la metodologia di congelamento lento (slow freezing). Cellule granulari cerebellari sono state crioconservate con successo con un protocollo che comporta l’uso di 10% DMSO come agente crioprotettivo, una velocità di congelamento di 2.1°C/ min, e un riscaldamento veloce (154.4°C/ min) a 39°C. Le cellule crioconservate con questo protocollo hanno mantenuto una buona vitalità dopo scongelamento, rimanendo vitali in coltura per 7 giorni. Ulteriori esperimenti devono essere effettuate per standardizzare questo protocollo.
XXIV Ciclo
1976

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Hereditary hydrancephaly and cerebellar hypolasia are reported in Murrah buffalos. Six calves, one female and 5 male out of 128 born between 2004 and 2008 in a farm in southern Brazil were affected. All affected calves were offspring from the same bull. No affected buffaloes were observed in the descendants of other three bulls used in the farm. Main clinical signs were depression, blindness, difficulty or impossibility to standing up, wide-based stance, and intention tremors. There is mild doming of the skull. The brain was smaller than normal. The cerebral cortex was almost complete absent leaving only membranous sacs fluid filled. The gyri were absent or narrower than normal in the occipital cortex. On the cut of the telencephalic cortex cavities were observed in the subcortical white matter. Smaller bilateral and symmetric cavities, containing fluid (porencephaly), were also observed in the basal nuclei. The lateral ventricles were dilated (hydrocephalum ex-vacuo). The cerebellum was smaller than normal. The brain stem appears normal, except by a side reduction in relation with the brain of a control calf. Upon histologic examination, in all buffalos, cavities of the subcortical white matter were limited by normal nervous tissue. Within cavities, residues of white matter sometimes bordered by ependymal cells were observed. The cortex was thin. Gitter cells, axonal spheroids, and gliosis were occasionally observed. Cerebellar disorganization, characteristic of cerebellar hypoplasia, and hypomyelinogenesis were observed in the cerebellum. Imuno-histochemistry and serologic tests were negative for bovine virus diarrhea and blue tongue viruses. These results associated with epidemiologic data suggest that the disease is a hereditary hydrancephaly and cerebellar hypoplasia, probably transmitted by a recessive autossomic gen.
Descreve-se a ocorrência de hidranencefalia e hipoplasia cerebelar congênita em búfalos da raça Murrah. Foram afetados seis bezerros, 5 fêmeas e 1 macho de um total de 128 nascidos entre 2004 e 2008 em uma propriedade no município de Capão do Leão, Rio Grande do Sul. Todos os búfalos afetados eram filhos do mesmo touro. A enfermidade não foi observada nos búfalos filhos de outros três touros utilizados na propriedade. Os sinais clínicos caracterizaram-se por depressão profunda, cegueira, estação em base larga, dificuldade ou impossibilidade de andar e tremores. O crânio apresentava forma de cúpula. Os encéfalos estavam diminuídos de tamanho e os hemisférios telencefálicos estavam quase que totalmente ausentes apresentando-se como sacos membranosos preenchidos por líquido. Havia resquícios de giros e sulcos no córtex occipital. Ao corte do encéfalo no córtex telencefálico remanescente observavam-se cavidades císticas bilaterais e simétricas na substância branca subcortical e nos núcleos basais que também continham líquido em seu interior (porencefalia). Os ventrículos laterais estavam dilatados (hidrocefalia ex-vacuo). O cerebelo e o tronco encefálico estavam diminuídos de tamanho em comparação ao cerebelo e ao tronco encefálico de um búfalo controle. Histologicamente em todos os búfalos afetados havia cavidades delimitadas por tecido nervoso de aspecto normal. Nestas cavidades havia eventualmente a presença de resquícios de substância branca, algumas vezes delimitadas por células ependimárias. O córtex estava delgado. Ocasionalmente, nestas áreas havia a presença de substância branca rarefeita com células gitter, esferóide axonais e gliose. No cerebelo observou-se desorganização celular e hipomielinogênese características de hipoplasia cerebelar. A imuno-histoquímica do tecido nervoso dos búfalos afetados e a sorologia do rebanho de búfalos realizados para os vírus da diarréia viral bovina e da língua azul foram negativos. Ess resultados associados a epidemiologia sugerem que a enfermidade é hereditária e causada por um gene recessivo autossômico.

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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
O tremor congênito em suínos possui diversas etiologias, inclusive os pestivirus. O objetivo deste trabalho foi avaliar se o vírus da diarreia viral bovina (BVDV) é um dos agentes etiológicos da enfermidade. Para tal, foi realizada inoculação de dez fêmeas suínas gestantes com BVDV-2 em dois diferentes modelos experimentais, sendo o primeiro a inoculação oronasal das fêmeas (Grupo 1; n=4), e o segundo a inoculação fetal intrauterina (Grupo 2; n=4). O terceiro grupo (Grupo 3; n=2) foi o controle. As marrãs e os fetos foram desafiados aos 45 dias de gestação com BVDV-2. Foram colhidas amostras sangue de todos os leitões nascidos para obtenção de sangue total e soro, para determinação dos títulos de anticorpos pela virusneutralização (VN) e detecção de RNA viral pela técnica de RTPCR. Um terço dos neonatos foram eutanasiados ao terceiro dia de idade, e deles coletaram-se fragmentos de encéfalo, tronco encefálico e medula espinhal para avaliação anatomohistopatológica e RT-PCR. Os leitões que permaneceram vivos foram avaliados clinicamente todos os dias, e foi realizada colheita de sangue periodicamente durante 35 dias, as quais foram submetidas à sorologia (VN) e RTPCR. Os leitões de ambos os grupos não apresentaram sinais clínicos neurológicos e nasceram com ausência de vírus no sangue e nos órgãos. Os leitões do Grupo 1 não apresentaram anticorpos contra o BVDV-2 ao nascimento, que posteriormente foram adquiridos por transferência passiva materna. Ao contrário, os leitões do Grupo 2 nasceram com altos títulos de anticorpos contra o agente, que permaneceram altos até o término do período experimental. Microscopicamente, não foram observadas alterações dignas de nota. Macroscopicamente, observou-se que 29,5% do total de leitões abatidos dos grupos infectados nasceram com baixa relação entre cérebro e cerebelo, o que pode ser indicativo de hipoplasia cerebelar. Desta forma, concluiu-se que o BVDV não parece ser um agente etiológico para o tremor congênito suíno.
Congenital tremor in pigs has several etiologies, including pestiviruses. The objective of this study was to evaluate whether bovine viral diarrhea virus (BVDV) is one of the etiological agents of this disease. Ten pregnant gilts were inoculated with BVDV-2 in two different experimental models, the first being the oronasal inoculation of the females (group 1; n=4), and the second was the intrauterine fetal inoculation (group 2; n=4). The third group (group 3; n=2) constituted the control group. Gilts and fetuses were challenged at 45 days of gestation with strain BVDV-2 SV 280. Blood samples were collected from all piglets born to obtain whole blood and serum for determination of antibody titers by virus neutralization (VN) and detection of viral RNA by the RT-PCR technique. One third of the neonates were euthanized at the third day of age, and fragments of brain, cerebellum, brain stem and spinal cord were collected for anatomopathological and RT-PCR evaluation. The piglets that remained alive were clinically evaluated every day, and blood samples were collected periodically for 35 days, which were submitted to serology (VN) and RT-PCR. The piglets of both groups showed no clinical neurological signs and were born without virus in the blood and organs. Group 1 piglets did not present antibodies against BVDV-2 at birth, which were acquired by passive maternal transfer. In contrast, Group 2 piglets were born with high antibody titers against the agent, which remained high until the end of the experimental period. Microscopically, no noticeable changes were observed. Macroscopically, it was observed that 29.5% of the total piglets slaughtered from the infected groups were born with a low ratio between brain and cerebellum, which may be indicative of cerebellar hypoplasia. Thus, it was concluded that BVDV does not appear to be an etiological agent for congenital pig tremor.
409435/2016-3
2016/02982-3,

Nephronophthisis (NPHP) is a clinically heterogeneous autosomal recessive cystic kidney disease and the leading genetic cause of end-stage renal failure in children and young adults. Whilst enlarged dysplastic cystic kidneys are associated with infantile NPHP, more typically renal ultrasound reveals normal kidney size and corticomedullary cysts in a child with polyuria and secondary enuresis. Extrarenal manifestations occur in 10–15% including retinal degeneration, cerebellar vermis hypoplasia and liver fibrosis, requiring referral to other specialists. Mutations in 18 genes have been identified to cause NPHP, but a genetic diagnosis still cannot be found in many patients. NPHP is classified as a ciliopathy because of the localization of the protein products of the associated genes. Currently there is no specific therapy for NPHP.

This chapter reviews background information about the incidence, risk factors, genetics, recurrence risk, and epidemiology of isolated and syndromic cerebellar hypoplasia, agenesis and dysgenesis, cerebellar vermis hypoplasia, Dandy Walker malformation and other cerebellar anomalies. The relationship between isolated unilateral cerebellar lesions and in utero infarction or vascular disruption is described. The discussion on the differential diagnosis of cerebellar anomalies summarizes common causes, including teratogenic agents (CMV, Herpes), chromosome anomalies (aneuploidy, copy number variants), metabolic disorders and Mendelian traits associated with malformations in other parts of the CNS and in other organ systems, including the ciliopathies. The chapter offers recommendations for evaluation and management. A clinical case presentation features an infant with rhombocephaosynapsis, aqueductal stenosis, and biparietal alopecia caused by Gomez–Lopez–Hernandez syndrome.