HSP classification and terminology

Posted - September 2017 in Research Highlights

Genetics explosion prompts update

 

Many neurodegenerative disorders were described in the 19th century but the vast amount of genetic knowledge now available is relatively recent. The continuing discovery of disease-causing gene mutations highlights the inadequacy and difficulties in the classification of these diseases.

 

Example of proposed HSP reclassification

The authors proposal is to simplify the way these diseases are named so that the essential characteristics of the condition are more readily understood by people who have them and their families, as well as by the neurologists who manage them, and the geneticists/genetic counsellors who also provide advice.

 

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 about them is recent (last 25 years). The continuing discovery of disease causing gene mutations leads to difficulties in the classification of these diseases.

 

We propose to update and simplify 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), and our proposals are expounded here.

 

SOURCE: Article in Revue Neurologique · May 2016 DOI: 10.1016/j.neurol.2016.04.005

 

Classifications of neurogenetic diseases: an increasingly complex problem

 

Jean-Michel Vallat,a Cyril Goizet,b Meriem Tazir,c Philippe Couratier,a Laurent Magy,a Stéphane Mathisd.

 

a Service de Neurologie, centre de reference “neuropathies périphériques rares”, Centre Hospitalier Universitaire

Dupuytren, 2 Avenue Martin Luther King, 87042 Limoges, France

b Service de Génétique médicale, Centre Hospitalier Universitaire Pellegrin, et Laboratoire MRGM, INSERM

U1211, Université Bordeaux place Amélie Raba-Léon, 33076 Bordeaux, France

c Service de Neurologie, Hôpital universitaire Mustapha Bacha, place du 1er Mai 1945, Sidi M’Hamed, 16000

Algiers, Algeria

d Service de Neurologie, Centre Hospitalier Universitaire La Milétrie, 2 rue de la Milétrie, 86021 Poitiers, France

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