SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years.
Seven families with six different SPG3A mutations were identified among 106 with autosomal dominant hereditary spastic paraplegia (HSP).
SPG3A was twice as frequent as SPG4 in patients with onset before age 10 years. Later onset than age 10 was not observed for SPG3A. The phenotype was pure HSP, but disease duration was longer than in non-SPG3A/SPG4 patients, leading ultimately to greater handicap.
Neurology. 2006 Jan 10;66(1):112-4.
SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years.
Namekawa M, Ribai P, Nelson I, Forlani S, Fellmann F, Goizet C, Depienne C, Stevanin G, Ruberg M, Durr A, Brice A.
INSERM U679 (former 289), Federative Institute for Neuroscience Research (IFR70), Salpetriere Hospital, Paris, France.