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220 results

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Page 1
Distal hereditary motor neuropathies.
Tazir M, Nouioua S. Tazir M, et al. Rev Neurol (Paris). 2024 Dec;180(10):1031-1036. doi: 10.1016/j.neurol.2023.09.005. Epub 2024 May 3. Rev Neurol (Paris). 2024. PMID: 38702287 Review.
The determination of the different genes involved in dHMNs made it possible to observe a genotypic overlap with some other neurogenetic disorders and other hereditary neuropathies such as CMT2, mainly with the HSPB1, HSPB8, BICD2 and TRPV4 genes of AD-inherited transmission and r …
The determination of the different genes involved in dHMNs made it possible to observe a genotypic overlap with some other neurogenetic diso …
Differentiating lower motor neuron syndromes.
Garg N, Park SB, Vucic S, Yiannikas C, Spies J, Howells J, Huynh W, Matamala JM, Krishnan AV, Pollard JD, Cornblath DR, Reilly MM, Kiernan MC. Garg N, et al. J Neurol Neurosurg Psychiatry. 2017 Jun;88(6):474-483. doi: 10.1136/jnnp-2016-313526. Epub 2016 Dec 21. J Neurol Neurosurg Psychiatry. 2017. PMID: 28003344 Free PMC article. Review.
A variety of hereditary causes are recognised, including spinal muscular atrophy, distal hereditary motor neuropathy and LMN variants of familial motor neuron disease. Recent genetic advances have resulted in the identification of a variety of disease- …
A variety of hereditary causes are recognised, including spinal muscular atrophy, distal hereditary motor neuropathy …
Inherited Peripheral Neuropathies.
Castoro R, Moss KR. Castoro R, et al. Neurol Clin. 2025 Nov;43(4):823-836. doi: 10.1016/j.ncl.2025.05.012. Epub 2025 Jun 23. Neurol Clin. 2025. PMID: 41161998 Review.
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD.
Cortese A, Dohrn MF, Curro R, Negri S, Lassuthova P, Pisciotta C, Tozza S, Al-Ajmi A, Feng C, Tomaselli PJ, Fernandez-Eulate G, Haddad S, Laurà M, Rossor AM, Vegezzi E, Facchini S, Sleigh JN, Rebelo A, Beijer D, Raposo J, Saporta M, Lauerova B, Pernice HF, Achenbach P, Schöne U, Alon T, Deschauer M, Cordts I, Obermaier CD, Winter N, Creigh PD, Sowden JE, Rehbein T, Magri S, Bertini A, Saveri P, Ripellino P, Huang J, Nadaj-Pakleza A, Ross A, Holt JKL, Brennan KM, Sukenik-Halevy R, Bizaoui V, Parman Y, Battaloglu E, Cakar A, Alrohaif H, Hammans S, Kumar KR, Kennerson ML, Kayserili H, Amado DA, Hahn K, Valentino P, Cavalcanti F, Gaetano C, Taroni F, Braathen GJ, Houlden H, Stojkovic T, Peric S, Bolino A, Previtali SC, Yi-Chung L, Başak AN, Hamed SA, Rojas-Garcia R, Claeys KG, Marques W, Sevilla T, Schlotter-Weigel B, Manganelli F, Zhang R, Herrmann DN, Scherer SS, Seeman P, Pareyson D, Reilly MM, Shy ME, Züchner S. Cortese A, et al. Brain. 2025 Oct 3;148(10):3737-3747. doi: 10.1093/brain/awaf021. Brain. 2025. PMID: 39938083 Free PMC article.
Two-thirds of cases were diagnosed with CMT2 while one-third had distal hereditary motor neuropathy. Disease onset was usually in the second decade of life. ...
Two-thirds of cases were diagnosed with CMT2 while one-third had distal hereditary motor neuropathy. Disease ons …
Hereditary neuropathies: An update.
Stojkovic T. Stojkovic T. Rev Neurol (Paris). 2016 Dec;172(12):775-778. doi: 10.1016/j.neurol.2016.06.007. Epub 2016 Nov 17. Rev Neurol (Paris). 2016. PMID: 27866730 Review.
HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies.
Tedesco B, Vendredy L, Adriaenssens E, Cozzi M, Asselbergh B, Crippa V, Cristofani R, Rusmini P, Ferrari V, Casarotto E, Chierichetti M, Mina F, Pramaggiore P, Galbiati M, Piccolella M, Baets J, Baeke F, De Rycke R, Mouly V, Laurenzi T, Eberini I, Vihola A, Udd B, Weiss L, Kimonis V, Timmerman V, Poletti A. Tedesco B, et al. Autophagy. 2023 Aug;19(8):2217-2239. doi: 10.1080/15548627.2023.2179780. Epub 2023 Feb 28. Autophagy. 2023. PMID: 36854646 Free PMC article.
Collectively, these results shed light on a potential pathogenic mechanism shared by the HSPB8_fs mutants described in neuromuscular diseases.Abbreviations : ACD: alpha-crystallin domain; ACTN: actinin alpha; BAG3: BAG cochaperone 3; C: carboxy; CASA: chaperone-assisted selective …
Collectively, these results shed light on a potential pathogenic mechanism shared by the HSPB8_fs mutants described in neuromuscular disease …
RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity.
Maroofian R, Sarraf P, O'Brien TJ, Kamel M, Cakar A, Elkhateeb N, Lau T, Patil SJ, Record CJ, Horga A, Essid M, Selim L, Benrhouma H, Ben Younes T, Zifarelli G, Pagnamenta AT, Bauer P, Khundadze M, Mirecki A, Kamel SM, Elmonem MA, Ghayoor Karimiani E, Jamshidi Y, Offiah AC, Rossor AM, Youssef-Turki IB, Hübner CA, Munot P, Reilly MM, Brown AEX, Nagy S, Houlden H. Maroofian R, et al. Brain. 2024 Jul 5;147(7):2334-2343. doi: 10.1093/brain/awae091. Brain. 2024. PMID: 38527963 Free PMC article.
In this study, we identified and validated seven novel or ultra-rare homozygous loss-of-function RTN2 variants in 14 individuals from seven consanguineous families with distal hereditary motor neuropathy (dHMN) using exome, genome and Sanger sequencing …
In this study, we identified and validated seven novel or ultra-rare homozygous loss-of-function RTN2 variants in 14 individuals from seven …
The roles of HSP40/DNAJ protein family in neurodegenerative diseases.
He Y, Wang Z. He Y, et al. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2022 Nov 25;51(5):640-646. doi: 10.3724/zdxbyxb-2021-0406. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2022. PMID: 36581576 Free PMC article. Review. English.
DNAJ family proteins have been linked to the occurrence and progression of neurodegenerative diseases such as Alzheimer's disease, Parkinson's disease, Huntington's disease, spinocerebellar ataxia, Charcot-Marie-Tooth disease, spinal muscular atrophy, distal hereditary …
DNAJ family proteins have been linked to the occurrence and progression of neurodegenerative diseases such as Alzheimer's disease, Parkinson …
220 results