Classifications of neurogenetic diseases: An increasingly complex problem

J.-M. Vallat, C. Goizet, M. Tazir, P. Couratier, L. Magy, S. Mathis. Revue Neurologique, Available online 27 May 2016, ISSN 0035-3787, doi:org/10.1016/j.neurol.2016.04.005.

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.
The nomenclature used in each case also requires the name of the mutated gene: for example Friedreich’s ataxia becomes ‘‘AR-CA-FXN’’. Nevertheless, these designations could allow some exceptions to be retained, such as names that are very well known, such as Friedreich’s ataxia and ataxia–telangiectasia.