Nicolaides P, Appleton R E, Fryer A
Royal Liverpool Children's NHS Trust, Alder Hey, Liverpool, UK.
J Med Genet. 1996 May;33(5):419-21. doi: 10.1136/jmg.33.5.419.
There are a large number of well recognised syndromes comprising cerebellar ataxia in association with other neurological features. We report three family members who presented with a relapsing, early onset cerebellar ataxia, associated with progressive optic atrophy and sensorineural deafness. All three patients have areflexia (in the absence of a peripheral neuropathy), a pes cavus deformity, and show varying degrees of severity. Extensive neurological investigations have been normal, and the aetiology and pathophysiology of this disorder remain unclear. This may represent a separate syndrome of early onset cerebellar ataxia with associated features ("cerebellar ataxia plus"), which is likely to either have an autosomal dominant or maternal mitochondrial pattern of inheritance. The recognition of this association under the acronym of CAPOS (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural deafness) may help in the delineation of a new syndrome.
有大量公认的综合征，包括伴有其他神经学特征的小脑共济失调。我们报告了三名家庭成员，他们表现为复发性、早发性小脑共济失调，伴有进行性视神经萎缩和感音神经性耳聋。所有三名患者均无反射（无周围神经病变）、足畸形，并表现出不同程度的严重程度。广泛的神经学检查均正常，该疾病的病因和病理生理学仍不清楚。这可能代表一种伴有相关特征的早发性小脑共济失调的单独综合征（“小脑共济失调加征”），其可能具有常染色体显性或母系线粒体遗传模式。以CAPOS（小脑共济失调、无反射、足畸形、视神经萎缩和感音神经性耳聋）的首字母缩写来识别这种关联可能有助于界定一种新的综合征。
