Namekawa M, Ribai P, Nelson I, Forlani S, Fellmann F, Goizet C, Depienne C, Stevanin G, Ruberg M, Dürr A, Brice A
INSERM U679 (former 289), Federative Institute for Neuroscience Research (IFR70), Salpêtrière Hospital, Paris, France.
Neurology. 2006 Jan 10;66(1):112-4. doi: 10.1212/01.wnl.0000191390.20564.8e.
Seven families with six different SPG3A mutations were identified among 106 with autosomal dominant hereditary spastic paraplegia (HSP). Two mutations were novel (T162P, C375R). SPG3A was twice as frequent as SPG4 in patients with onset before age 10 years (31.8%). Later onset was not observed. The phenotype was pure HSP, but disease duration was longer than in non-SPG3A/SPG4 patients, leading ultimately to greater handicap.
在106例常染色体显性遗传性痉挛性截瘫（HSP）患者中，发现了7个家庭带有6种不同的SPG3A突变。其中2种突变为新发现的（T162P、C375R）。在10岁前发病的患者中，SPG3A的发生率是SPG4的两倍（31.8%）。未观察到较晚发病的情况。其表型为单纯HSP，但病程比非SPG3A/SPG4患者更长，最终导致更严重的残疾。
