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Classifications of neurogenetic diseases : An increasingly complex problem

VALLAT JM; GOIZET C; TAZIR M; COURATIER P; MAGY L; MATHIS S
REV NEUROL (Paris) , 2016, vol. 172, n° 6-7, p. 339-349
Doc n°: 179477
Localisation : Documentation IRR

D.O.I. : http://dx.doi.org/DOI:10.1016/j.neurol.2016.04.005
Descripteurs : AC1 - ETUDES GENERALES - SYSTEME NERVEUX PERIPHERIQUE

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.
CI - Copyright (c) 2016 Elsevier Masson SAS. All rights reserved.

Langue : ANGLAIS

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