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Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases
Article de revue   Avec comité de lecture

Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases

C Depienne, C Tallaksen, J Lephay, B Bricka, S Poea-Guyon, B. Fontaine, Pierre Labauge, A. Brice et A. Durr
Journal of medical genetics, Vol.43(3), pp.259-265
01/03/2006
DOI: https://doi.org/10.1136/jmg.2005.035311
PMID: 16055926

Résumé

Adenosine Triphosphatases Chromatography, High Pressure Liquid Cognitive Sciences Diagnosis, Differential DNA Exons Gene Frequency Humans Life Sciences Mutation Neurobiology Neurons and Cognition Paraparesis, Spastic Paraplegia Psychology and behavior Spastin
SPG4 encodes spastin, a member of the AAA protein family, and is the major gene responsible for autosomal dominant spastic paraplegia. It accounts for 10-40% of families with pure (or eventually complicated) hereditary spastic paraparesis (HSP).

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