Classifications of neurogenetic diseases: An increasingly complex problem.
Revue Neurologique. 2016-06-01; 172(6-7): 339-349
DOI: 10.1016/j.neurol.2016.04.005
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1. Rev Neurol (Paris). 2016 Jun-Jul;172(6-7):339-49. doi:
10.1016/j.neurol.2016.04.005. Epub 2016 May 27.
Classifications of neurogenetic diseases: An increasingly complex problem.
Vallat JM(1), Goizet C(2), Tazir M(3), Couratier P(1), Magy L(1), Mathis S(4).
Author information:
(1)Service de neurologie, centre de référence « neuropathies périphériques
rares », CHU Dupuytren, 2, avenue Martin-Luther-King, 87042 Limoges, France.
(2)Service de génétique médicale, CHU Pellegrin, laboratoire MRGM, Inserm U1211,
université de Bordeaux, place Amélie-Raba-Léon, 33076 Bordeaux, France.
(3)Service de neurologie, hôpital universitaire Mustapha Bacha, place du 1(er)
mai 1945, Sidi M’Hamed, 16000 Algers, Algeria.
(4)Service de neurologie, CHU de la Milétrie, 2, rue de la Milétrie, 86021
Poitiers, France. Electronic address: .
Neurodegenerative disorders represent a wide group of diseases affecting the
central and/or peripheral nervous system. Many of these disorders were described
in the 19th century, but our genetic knowledge of them is recent (over the past
25 years). However, the continual discovery of disease-causing gene mutations has
led to difficulties in the classification of these diseases. For this reason, our
present proposals for updating and simplifying the classification of some of
these conditions (Charcot-Marie-Tooth diseases, distal hereditary motor
neuropathies, hereditary sensory and autonomic neuropathies, hereditary spastic
ataxias, hereditary spastic paraplegias and hereditary spastic ataxias) are
expounded here.
Copyright © 2016 Elsevier Masson SAS. All rights reserved.
DOI: 10.1016/j.neurol.2016.04.005
PMID: 27240993 [Indexed for MEDLINE]