Alberca R, Castilla J M, Gil-Peralta A
J Neurol Sci. 1981 May;50(2):201-6. doi: 10.1016/0022-510x(81)90166-0.
A Spanish family transmits, as an autosomal dominant trait, a form of amyotrophic lateral sclerosis characterized by an unusually prolonged evolution of the disease in all affected members. Precocity and persistence of muscle cramps, presence of unilateral proximal segmental myoclonus and early abolition of ankle jerks are other clinical features conspicuous in this family. This type of hereditary ALS of non-chamorro origin and prolonged evolution is rare.
一个西班牙家庭将一种常染色体显性遗传的肌萎缩侧索硬化症传递下去，其特征是所有受影响成员的疾病进展异常缓慢。肌肉痉挛出现早且持续存在、存在单侧近端节段性肌阵挛以及早期踝反射消失是这个家族中其他明显的临床特征。这种非查莫罗血统且病程延长的遗传性肌萎缩侧索硬化症很罕见。
