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Journal articles on the topic 'Hereditary motor neuropathy'

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Author: Grafiati

Published: 4 June 2021

Last updated: 20 February 2023

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1

Hahn, A. F., A. W. Parkes, C. F. Bolton, and S. A. Stewart. "Neuromyotonia in hereditary motor neuropathy." Journal of Neurology, Neurosurgery & Psychiatry 54, no. 3 (March 1, 1991): 230–35. http://dx.doi.org/10.1136/jnnp.54.3.230.

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2

Pleasure, David. "Hereditary Motor and Sensory Neuropathy." Archives of Neurology 56, no. 10 (October 1, 1999): 1195. http://dx.doi.org/10.1001/archneur.56.10.1195.

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3

Millichap, J. Gordon. "Hereditary Motor and Sensory Neuropathy Mutation." Pediatric Neurology Briefs 6, no. 6 (June 1, 1992): 44. http://dx.doi.org/10.15844/pedneurbriefs-6-6-5.

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4

Millichap, J. Gordon. "Hereditary Motor and Sensory Neuropathy (HMSN)." Pediatric Neurology Briefs 1, no. 5 (October 1, 1987): 31. http://dx.doi.org/10.15844/pedneurbriefs-1-5-1.

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5

Millichap, J. Gordon. "Hereditary Motor and Sensory Neuropathy IIB." Pediatric Neurology Briefs 11, no. 2 (February 1, 1997): 13. http://dx.doi.org/10.15844/pedneurbriefs-11-2-8.

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6

Gabreëls-Festen, Anneke, and Fons Gabreëls. "Hereditary Demyelinating Motor and Sensory Neuropathy." Brain Pathology 3, no. 2 (April 1993): 135–46. http://dx.doi.org/10.1111/j.1750-3639.1993.tb00738.x.

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7

Rudnik-Schöneborn, Sabine, Michaela Auer-Grumbach, and Jan Senderek. "Charcot-Marie-Tooth disease and hereditary motor neuropathies – Update 2020." Medizinische Genetik 32, no. 3 (September 1, 2020): 207–19. http://dx.doi.org/10.1515/medgen-2020-2038.

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Abstract Inherited peripheral neuropathy is the most common hereditary neuromuscular disease with a prevalence of about 1:2,500. The most frequent form is Charcot-Marie-Tooth disease (CMT, or hereditary motor and sensory neuropathy [HMSN]). Other clinical entities are hereditary neuropathy with liability to pressure palsies (HNPP), distal hereditary motor neuropathies (dHMN), and hereditary sensory and autonomic neuropathies (HSAN). With the exception of HNPP, which is almost always caused by defects of the PMP22 gene, all other forms show genetic heterogeneity with altogether more than 100 genes involved. Mutation detection rates vary considerably, reaching up to 80 % in demyelinating CMT (CMT1) but are still as low as 10–30 % in axonal CMT (CMT2), dHMN, and HSAN. Based on current information, analysis of only four genes (PMP22, GJB1, MPZ, MFN2) identifies 80–90 % of CMT-causing mutations that can be detected in all known disease genes. For the remaining patients, parallel analysis of multiple neuropathy genes using next-generation sequencing is now replacing phenotype-oriented multistep gene-by-gene sequencing. Such approaches tend to generate a wealth of genetic information that requires comprehensive evaluation of the pathogenic relevance of identified variants. In this review, we present current classification systems, specific phenotypic clues, and diagnostic yields in the different subgroups of hereditary CMT and motor neuropathies.

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8

Thomas, P. K. "Autosomal recessive hereditary motor and sensory neuropathy." Current Opinion in Neurology 13, no. 5 (October 2000): 565–68. http://dx.doi.org/10.1097/00019052-200010000-00010.

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9

BERCIANO, J., O. COMBARROS, J. FIGOLS, J. CALLEJA, A. CABELLO, I. SILOS, and F. CORIA. "HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE II." Brain 109, no. 5 (1986): 897–914. http://dx.doi.org/10.1093/brain/109.5.897.

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10

Cardoso, Francisco E. C., and Joseph Jankovic. "Hereditary motor-sensory neuropathy and movement disorders." Muscle & Nerve 16, no. 9 (September 1993): 904–10. http://dx.doi.org/10.1002/mus.880160904.

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11

Larsen, Marianne, and Michael Hammer. "Hereditary motor and sensory neuropathy type I." Pediatric Neurology 11, no. 2 (September 1994): 115. http://dx.doi.org/10.1016/0887-8994(94)90263-1.

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12

Takashima, Hiroshi. "Clinical practice of hereditary motor neuropathy (HMN) and hereditary sensory and autonomic neuropathy (HSAN)." Rinsho Shinkeigaku 54, no. 12 (2014): 957–59. http://dx.doi.org/10.5692/clinicalneurol.54.957.

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13

Bansagi, Boglarka, Helen Griffin, Roger G. Whittaker, Thalia Antoniadi, Teresinha Evangelista, James Miller, Mark Greenslade, et al. "Genetic heterogeneity of motor neuropathies." Neurology 88, no. 13 (March 1, 2017): 1226–34. http://dx.doi.org/10.1212/wnl.0000000000003772.

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Objective:To study the prevalence, molecular cause, and clinical presentation of hereditary motor neuropathies in a large cohort of patients from the North of England.Methods:Detailed neurologic and electrophysiologic assessments and next-generation panel testing or whole exome sequencing were performed in 105 patients with clinical symptoms of distal hereditary motor neuropathy (dHMN, 64 patients), axonal motor neuropathy (motor Charcot-Marie-Tooth disease [CMT2], 16 patients), or complex neurologic disease predominantly affecting the motor nerves (hereditary motor neuropathy plus, 25 patients).Results:The prevalence of dHMN is 2.14 affected individuals per 100,000 inhabitants (95% confidence interval 1.62–2.66) in the North of England. Causative mutations were identified in 26 out of 73 index patients (35.6%). The diagnostic rate in the dHMN subgroup was 32.5%, which is higher than previously reported (20%). We detected a significant defect of neuromuscular transmission in 7 cases and identified potentially causative mutations in 4 patients with multifocal demyelinating motor neuropathy.Conclusions:Many of the genes were shared between dHMN and motor CMT2, indicating identical disease mechanisms; therefore, we suggest changing the classification and including dHMN also as a subcategory of Charcot-Marie-Tooth disease. Abnormal neuromuscular transmission in some genetic forms provides a treatable target to develop therapies.

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14

D'Arrigo, Stefano, Valeria Tessarollo, Franco Taroni, Silvia Baratta, Chiara Pantaleoni, Elena Schiaffi, and Claudia Ciano. "A Case of Severe Early-Onset Neuropathy Caused by a Compound Heterozygous Deletion of the PMP22 Gene: Clinical and Neurographic Aspects." Neuropediatrics 51, no. 03 (November 29, 2019): 173–77. http://dx.doi.org/10.1055/s-0039-3400985.

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AbstractHeterozygous deletions of the gene PMP22 are associated to hereditary neuropathy with liability to pressure palsies (HNPP), a demyelinating neuromuscular disease causing variable transitory focal muscles weakness. Deletions involving both copies of PMP22 cause more severe phenotypes, with early-onset neuropathy and impairment in motor development. We report a patient with a severe early-onset demyelinating neuropathy, caused by two different inherited deletions of PMP22, whose parents had an HNPP. The patient showed neurological signs and delay in motor development but normal intellective abilities. A motor and sensitive conduction study showed severe signs of demyelination, suggestive for Dejerine Sottas Syndrome (DSS). The patient's father had a typical HNPP caused by a heterozygous 17p11.2 deletion, encompassing PMP22. The patient's mother reported no neuropathic symptoms, but in a nerve conduction studies, parents and several relatives showed signs of sensory–motor deficit with focal slowing of conduction at common sites of entrapment. Quantitative analysis of PMP22, performed in our patient by multiplex ligation-dependent probe amplification, revealed a compound heterozygous status with the same deletion of the father and a deletion of PMP22 exon 5, after proved to be inherited from the mother. Therefore, when we face an early-onset, severe form of neuropathy, we have to consider rare forms of hereditary neuropathy caused by homozygous or compound heterozygous mutations in PMP22, even if parents are asymptomatic; an exhaustive family history and an electrodiagnostic study are essential to guide genetic tests and to make a diagnosis.

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15

Marinho, Jaqueline Luvisotto, José Luis Alonso Nieto, and Edenilson Eduardo Calore. "Dejerine-Sottas disease: a case report." Sao Paulo Medical Journal 121, no. 5 (2003): 207–9. http://dx.doi.org/10.1590/s1516-31802003000500006.

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CONTEXT: Hereditary peripheral neuropathies (hereditary motor-sensory neuropathies or hereditary demyelinating neuropathies) are abnormalities of Schwann cells and their myelin sheaths, with peripheral nerve dysfunction. They include Charcot-Marie-Tooth disease, Dejerine-Sottas disease, congenital hypomyelinating neuropathy and hereditary neuropathy with liability to pressure palsy. OBJECTIVE: The objective of the present work was to describe a case of Dejerine-Sottas disease. CASE REPORT: A 9-year-old boy presented progressive slight motor deficit in the lower limbs, particularly in the feet, and generalized hyporeflexia. Electromyography disclosed significant reduction in motor and sensory nerve conduction velocities. Sural nerve biopsy showed axons surrounded by a thin myelin sheath and concentrically arranged cytoplasmic processes of Schwann cells forming onion-bulbs. No axon damage was observed.

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16

Auer-Grumbach, Michaela, Jan Senderek, and Sabine Rudnik-Schöneborn. "Hereditary Neuropathies: Update 2017." Neuropediatrics 48, no. 04 (June 8, 2017): 282–93. http://dx.doi.org/10.1055/s-0037-1603518.

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AbstractHereditary neuropathy is an umbrella term for a group of nonsyndromic conditions with a prevalence of approximately 1:2,500. In addition to the most frequent form, Charcot–Marie–Tooth's disease (CMT, or hereditary motor and sensory neuropathy), there are additional entities such as hereditary neuropathy with liability to pressure palsies (HNPP), hereditary motor neuropathies (HMNs), and hereditary sensory and autonomic neuropathies (HSANs). With the exception of HNPP, which is almost always caused by defects of the PMP22 gene, all other forms show genetic heterogeneity with altogether close to 100 genes involved. Mutation detection rates vary considerably, reaching up to 80% in demyelinating CMT (CMT1) but are still as low as 10 to 30% in axonal CMT (CMT2), HMN, and HSAN. Based on current information, analysis of only four genes (PMP22, GJB1, MPZ, MFN2) identifies 80 to 90% of CMT-causing mutations that can be detected in all known disease genes. For the remaining patients, parallel analysis of multiple neuropathy genes using next-generation sequencing is now replacing phenotype-oriented multistep gene-by-gene sequencing. Such approaches tend to generate a wealth of genetic information that requires comprehensive evaluation of the pathogenic relevance of identified variants. In this review, we present current classification systems, specific phenotypic clues, and genetic testing algorithms in the different subgroups of hereditary neuropathies.

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17

Govbah, I. А. "Clinical Polymorphism of 1Аtype Hereditary Motor-Sensory Neuropathy." Ukraïnsʹkij žurnal medicini, bìologìï ta sportu 1, no. 2 (May 19, 2016): 37–43. http://dx.doi.org/10.26693/jmbs01.02.037.

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18

Hardie, R., A. E. Harding, N. Hirsch, C. Gelder, A. D. Macrae, and P. K. Thomas. "Diaphragmatic weakness in hereditary motor and sensory neuropathy." Journal of Neurology, Neurosurgery & Psychiatry 53, no. 4 (April 1, 1990): 348–50. http://dx.doi.org/10.1136/jnnp.53.4.348.

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19

Green, M. M., and C. Laroche. "Diaphragmatic weakness in hereditary motor and sensory neuropathy." Journal of Neurology, Neurosurgery & Psychiatry 54, no. 8 (August 1, 1991): 759. http://dx.doi.org/10.1136/jnnp.54.8.759.

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20

Horacek, Ondrej, Radim Mazanec, Craig E. Morris, and Alena Kobesova. "Spinal Deformities in Hereditary Motor and Sensory Neuropathy." Spine 32, no. 22 (October 2007): 2502–8. http://dx.doi.org/10.1097/brs.0b013e3181573d4e.

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21

HAHN, A. F., W. F. BROWN, W. J. KOOPMAN, and T. E. FEASBY. "X-LINKED DOMINANT HEREDITARY MOTOR AND SENSORY NEUROPATHY." Brain 113, no. 5 (1990): 1511–25. http://dx.doi.org/10.1093/brain/113.5.1511.

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22

Barwick, Katy E. S., Jane Wright, Saeed Al-Turki, Meriel M. McEntagart, Ajith Nair, Barry Chioza, Ali Al-Memar, et al. "Defective Presynaptic Choline Transport Underlies Hereditary Motor Neuropathy." American Journal of Human Genetics 91, no. 6 (December 2012): 1103–7. http://dx.doi.org/10.1016/j.ajhg.2012.09.019.

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23

Panas, Marios, Nikolaos Kalfakis, Georgia Karadima, Panagiota Davaki, and Demetris Vassilopoulos. "Friedreich's ataxia mimicking hereditary motor and sensory neuropathy." Journal of Neurology 249, no. 11 (November 1, 2002): 1583–86. http://dx.doi.org/10.1007/s00415-002-0902-2.

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24

Sommer, Claudia. "Hereditary Motor and Sensory Neuropathy With Optic Atrophy." Archives of Neurology 46, no. 9 (September 1, 1989): 973. http://dx.doi.org/10.1001/archneur.1989.00520450043017.

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25

de Visser, Marianne, Jessica E. Hoogendijk, Bram W. Ongerboer de Visser, and Bernhard J. Verbeeten. "Calf enlargement in hereditary motor and sensory neuropathy." Muscle & Nerve 13, no. 1 (January 1990): 40–46. http://dx.doi.org/10.1002/mus.880130109.

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26

Sokolova, Mariia G., Sergei V. Lobzin, Andrey A. Zuev, Vladimir G. Pustozerov, Nicolay Yu Aleksandrov, and Artur V. Gavrichenko. "On the question of differential diagnosis of multifocal motor neuropathy." HERALD of North-Western State Medical University named after I.I. Mechnikov 12, no. 1 (May 28, 2020): 89–96. http://dx.doi.org/10.17816/mechnikov202012189-96.

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Differential diagnostics of multifocal motor neuropathy (MMN) has many difficulties associated with a number of factors: rare nature of disease, polymorphic clinical forms and a phenotypic picture similar to peripheral motor neuron diseases. Such diseases also include rare nosological forms: amyotrophic lateral sclerosis, hereditary myopathies and neuropathies; their general phenotypic picture has a form of progressive flaccid paralysis, age of the disease onset and the nature of its course. However, different pathogenesis of these diseases requires a differentiated approach to therapy. This article deals with differential diagnostics of multifocal motor neuropathy, gives examples of modern diagnostic criteria necessary for diagnosing multifocal motor neuropathy and analyzes a clinical case with an incorrect diagnosis of multifocal motor neuropathy.

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27

Kiteva-Trencevska, G., S. Vlaski-Jekic, and R. Naumovski. "P181 Electrophysiology of hereditary motor & sensory neuropathy and hereditary spinocerebellar ataxia." Electroencephalography and Clinical Neurophysiology 99, no. 4 (October 1996): 317. http://dx.doi.org/10.1016/0013-4694(96)88307-6.

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28

Barbieri, F., R. Santangelo, G. Capparelli, A. Ciccarelli, and C. Crisci. "Autosomal Recessive Motor and Sensory Neuropathy with Excessive Myelin Outfolding in Two Siblings." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 21, no. 1 (February 1994): 29–33. http://dx.doi.org/10.1017/s0317167100048721.

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ABSTRACT:Two siblings, a 35-year-old male and a 37-year-old female, offspring of first cousins, presented with a hereditary motor and sensory neuropathy with type I clinical features which began to manifest at about age 10 years. Nerve biopsy in the proband showed it to be a type characterized by excessive myelin outfolding. Morphometric study revealed hypomyelination with focal thickenings due to outfoldings. Clinical, electrophysiological and morphological findings are virtually identical to those described by Ohnishi et al. The peculiarity of the neuropathological picture suggests a particular form of hereditary motor and senory neuropathy.

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29

Rossor, Alexander M. "Broadening the genetic spectrum of distal hereditary motor neuropathy." European Journal of Neurology 28, no. 4 (February 2021): 1104–5. http://dx.doi.org/10.1111/ene.14734.

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30

Говбах, Ирина Александровна. "Modern approaches to diagnostics of hereditary motor-sensory neuropathy." ScienceRise 3, no. 4(8) (March 19, 2015): 43. http://dx.doi.org/10.15587/2313-8416.2015.39134.

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31

Lee, Duk-Yong, In-Ho Choi, Chin-Youg Chung, Hung-Han Bae, and Kang-Sup Yoon. "A Case of Hereditary Sensory-Motor Neuropathy Type V." Journal of the Korean Orthopaedic Association 31, no. 1 (1996): 154. http://dx.doi.org/10.4055/jkoa.1996.31.1.154.

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32

Nakagawa, Masanori. "A wide spectrum of Hereditary Motor Sensory Neuropathy (HMSN)." Rinsho Shinkeigaku 49, no. 11 (2009): 950–52. http://dx.doi.org/10.5692/clinicalneurol.49.950.

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33

Lee, Diana C., Rebecca Meyer‐Schuman, Chelsea Bacon, Michael E. Shy, Anthony Antonellis, and Steven S. Scherer. "A recurrent GARS mutation causes distal hereditary motor neuropathy." Journal of the Peripheral Nervous System 24, no. 4 (November 22, 2019): 320–23. http://dx.doi.org/10.1111/jns.12353.

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34

Combarros, O., J. Calleja, J. M. Polo, and J. Berciano. "Prevalence of hereditary motor and sensory neuropathy in Cantabria." Acta Neurologica Scandinavica 75, no. 1 (January 1987): 9–12. http://dx.doi.org/10.1111/j.1600-0404.1987.tb07882.x.

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35

Carter, Gregory T., Richard T. Abresch, William M. Fowler, E. Ralph Johnson, David D. Kilmer, and Craig M. McDonald. "Hereditary Motor and Sensory Neuropathy, Types I and II." American Journal of Physical Medicine & Rehabilitation 74, Supplement 1 (September 1995): S140—S149. http://dx.doi.org/10.1097/00002060-199509001-00008.

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36

SPAANS, F., F. G. I. JENNEKENS, J. F. MIRANDOLLE, J. B. BIJLSMA, and G. C. DE GAST. "MYOTONIC DYSTROPHY ASSOCIATED WITH HEREDITARY MOTOR AND SENSORY NEUROPATHY." Brain 109, no. 6 (1986): 1149–68. http://dx.doi.org/10.1093/brain/109.6.1149.

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37

OUVRIER, ROBERT A., JAMES G. MCLEOD, and THERESE E. CONCHIN. "THE HYPERTROPHIC FORMS OF HEREDITARY MOTOR AND SENSORY NEUROPATHY." Brain 110, no. 1 (1987): 121–48. http://dx.doi.org/10.1093/brain/110.1.121.

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38

Huang, Y. ‐N, H. ‐J Chuang, H. ‐W Hsueh, H. ‐C Huang, N. ‐C Lee, C. ‐C Chao, P. ‐H Huang, et al. "A case of GNE myopathy mimicking hereditary motor neuropathy." European Journal of Neurology 27, no. 11 (October 13, 2020): 2389–91. http://dx.doi.org/10.1111/ene.14489.

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39

Shi, Chang-he, Bo Song, Hai-yang Luo, Cheng-yuan Mao, Dan-dan Shang, Yuan Cao, Shi-lei Sun, Jun Wu, Zheng-ping Zhuang, and Yu-ming Xu. "Recessive hereditary motor and sensory neuropathy caused byIGHMBP2gene mutation." Neurology 85, no. 4 (July 1, 2015): 383–84. http://dx.doi.org/10.1212/wnl.0000000000001747.

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40

DYCK, PETER JAMES, CAROL J. SWANSON, RICK A. NISHIMURA, FRANCIS J. KAZMIER, and J. T. LIE. "Cardiomyopathy in Patients With Hereditary Motor and Sensory Neuropathy." Mayo Clinic Proceedings 62, no. 8 (August 1987): 672–75. http://dx.doi.org/10.1016/s0025-6196(12)65217-3.

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41

Sakashita, Yasuo, Shunichi Sakato, Kiyonobu Komai, and Masaharu Takamori. "Hereditary motor and sensory neuropathy with calf muscle enlargement." Journal of the Neurological Sciences 113, no. 1 (November 1992): 118–22. http://dx.doi.org/10.1016/0022-510x(92)90274-o.

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42

Jaradeh, S., and P. J. Dyck. "Hereditary Motor and Sensory Neuropathy With Treatable Extrapyramidal Features." Archives of Neurology 49, no. 2 (February 1, 1992): 175–78. http://dx.doi.org/10.1001/archneur.1992.00530260077024.

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43

Chan, C. K. "Respiratory muscle dysfunction in hereditary motor and sensory neuropathy." Archives of Internal Medicine 149, no. 4 (April 1, 1989): 972a—973. http://dx.doi.org/10.1001/archinte.149.4.972a.

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44

CHAN, CHARLES K. "Respiratory Muscle Dysfunction in Hereditary Motor and Sensory Neuropathy." Archives of Internal Medicine 149, no. 4 (April 1, 1989): 972. http://dx.doi.org/10.1001/archinte.1989.00390040162044.

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45

Haberlová, J., K. G. Claeys, P. De Jonghe, and P. Seeman. "Cranial nerves palsy as an initial feature of an early onset distal hereditary motor neuropathy – A new distal hereditary motor neuropathy phenotype." Neuromuscular Disorders 19, no. 6 (June 2009): 427–28. http://dx.doi.org/10.1016/j.nmd.2009.03.005.

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46

Barry, LD, and J. Fluellen. "Charcot-Marie-Tooth disease. Podiatric and systemic considerations." Journal of the American Podiatric Medical Association 81, no. 9 (September 1, 1991): 490–94. http://dx.doi.org/10.7547/87507315-81-9-490.

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Charcot-Marie-Tooth disease is a hereditary motor and sensory neuropathy with well documented manifestations in the extremities. Recent literature suggests systemic involvement in this neuropathy. The authors present a review of the literature, anesthetic considerations, and practical recommendations for the assessment of involved systems.

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47

Yim, Shin Young, Il Yung Lee, Hae Won Moon, Ueon Woo Rah, Sung Hwan Kim, Chul Sim, and Hee Jae Joo. "Hypertrophic neuropathy with complete conduction block: hereditary motor and sensory neuropathy type III." Yonsei Medical Journal 36, no. 5 (1995): 466. http://dx.doi.org/10.3349/ymj.1995.36.5.466.

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48

Leonardis, L., J. Zidar, M. Popovič, V. Timmerman, A. Löfgren, C. Van Broeckhoven, and D. Butinar. "Hereditary motor and sensory neuropathy associated with auditory neuropathy in a Gypsy family." Pflügers Archiv - European Journal of Physiology 439, S1 (January 2000): r208—r210. http://dx.doi.org/10.1007/s004240000148.

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49

Gregory, R., P. K. Thomas, R. H. M. King, P. L. J. Hallam, S. Malcolm, R. A. C. Hughes, and A. E. Harding. "Coexistence of hereditary motor and sensory neuropathy type IA and IGM paraproteinemic neuropathy." Annals of Neurology 33, no. 6 (June 1993): 649–52. http://dx.doi.org/10.1002/ana.410330615.

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50

Leonardis, L., J. Zidar, M. Popovič, V. Timmerman, A. Löfgren, C. Van Broeckhoven, and D. Butinar. "Hereditary motor and sensory neuropathy associated with auditory neuropathy in a Gypsy family." Pflügers Archiv - European Journal of Physiology 439, no. 7 (July 2000): R208—R210. http://dx.doi.org/10.1007/bf03376574.

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