Rivier F, Echenne B
Service de Neuropédiatrie, Centre Gui de Chauliac, Montpellier, France.
Neuropediatrics. 1992 Aug;23(4):206-8. doi: 10.1055/s-2008-1071342.
A mother and her two daughters with presumed dominantly inherited, non-progressive, congenital cerebellar ataxia are reported. Magnetic resonance imaging revealed vermal hypoplasia in one case, and generalized hypoplasia of the cerebellum, predominating at the vermal level, in another case. These patients are identical to those previously published, except for a slowly progressive improvement of motor abilities observed during evolution.
报道了一位母亲及其两个女儿，她们患有疑似显性遗传、非进行性先天性小脑共济失调。磁共振成像显示，一例为小脑蚓部发育不全，另一例为小脑整体发育不全，以蚓部水平为主。这些患者与之前发表的患者相同，只是在病程中观察到运动能力有缓慢的进行性改善。
