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Article Dans Une Revue Journal of Medical Genetics Année : 2005

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

Résumé

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).

Dates et versions

hal-02522167 , version 1 (27-03-2020)

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C Depienne, C Tallaksen, J Lephay, B Bricka, S Poea-Guyon, et al.. Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases. Journal of Medical Genetics, 2005, 43 (3), pp.259-265. ⟨10.1136/jmg.2005.035311⟩. ⟨hal-02522167⟩
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