title: Classifications of neurogenetic diseases: An increasingly complex problem.
abstract: 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.
authors.affiliation: Service de neurologie, centre de référence « neuropathies périphériques rares », CHU Dupuytren, 2, avenue Martin-Luther-King, 87042 Limoges, France.
authors.forename: J-M
authors.initials: JM
authors.lastname: Vallat
authors.affiliation: Service de génétique médicale, CHU Pellegrin, laboratoire MRGM, Inserm U1211, université de Bordeaux, place Amélie-Raba-Léon, 33076 Bordeaux, France.
authors.forename: C
authors.initials: C
authors.lastname: Goizet
authors.affiliation: Service de neurologie, hôpital universitaire Mustapha Bacha, place du 1(er) mai 1945, Sidi M'Hamed, 16000 Algers, Algeria.
authors.forename: M
authors.initials: M
authors.lastname: Tazir
authors.affiliation: Service de neurologie, centre de référence « neuropathies périphériques rares », CHU Dupuytren, 2, avenue Martin-Luther-King, 87042 Limoges, France.
authors.forename: P
authors.initials: P
authors.lastname: Couratier
authors.affiliation: Service de neurologie, centre de référence « neuropathies périphériques rares », CHU Dupuytren, 2, avenue Martin-Luther-King, 87042 Limoges, France.
authors.forename: L
authors.initials: L
authors.lastname: Magy
authors.affiliation: Service de neurologie, CHU de la Milétrie, 2, rue de la Milétrie, 86021 Poitiers, France. Electronic address: stephane.mathis@chu-poitiers.fr.
authors.forename: S
authors.initials: S
authors.lastname: Mathis
mesh_terms: D002524:Cerebellar Ataxia / Q000145:classification / Q000175:diagnosis / Q000235:genetics; D002607:Charcot-Marie-Tooth Disease / Q000145:classification / Q000175:diagnosis / Q000235:genetics; D056726:Genetic Association Studies; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000145:classification* / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics; D019636:Neurodegenerative Diseases / Q000145:classification / Q000235:genetics; D015419:Spastic Paraplegia, Hereditary / Q000145:classification / Q000175:diagnosis / Q000235:genetics
chemical_list: D009419:Nerve Tissue Proteins
keywords: Cerebellar ataxia; Charcot–Marie–Tooth; Classification; HSAN; Spastic paraplegia