Koskinen T, Santavuori P, Sainio K, Lappi M, Kallio A K, Pihko H
Department of Child Neurology, Children's Hospital, University of Helsinki, Finland.
J Neurol Sci. 1994 Jan;121(1):50-6. doi: 10.1016/0022-510x(94)90156-2.
We report the clinical findings in 19 Finnish patients, including six pairs of siblings, with a new, early onset spinocerebellar ataxia. The slowly progressive clinical symptoms manifested between one and two years of age in previously healthy infants. The first manifestation of children at that age was clumsiness and loss of ability to walk. Ataxia, athetosis and muscle hypotonia with loss of deep tendon reflexes were discovered on clinical examination. By school age ophthalmoplegia and hearing loss were diagnosed, while sensory neuropathy developed by adolescence. In addition, an acute crisis with status epilepticus was a late manifestation. We found a marked decrease in sensory nerve condition velocities, a progressive loss of myelinated fibers in sural nerve specimen, and abnormal background activity in EEG with advancing age. The main finding in neuroradiological investigations was cerebellar atrophy. The occurrence of the disease in siblings and lack of manifestations in parents indicate recessive inheritance.
我们报告了19名芬兰患者的临床发现，其中包括6对兄弟姐妹，他们患有一种新的早发性脊髓小脑共济失调。这种缓慢进展的临床症状出现在先前健康的婴儿1至2岁之间。那个年龄段儿童的首发表现是笨拙和行走能力丧失。临床检查发现共济失调、手足徐动症以及伴有深腱反射消失的肌张力减退。到学龄期诊断出眼肌麻痹和听力丧失，而感觉神经病变在青春期出现。此外，癫痫持续状态的急性发作是晚期表现。我们发现感觉神经传导速度显著降低，腓肠神经标本中有髓纤维逐渐丧失，且随着年龄增长脑电图背景活动异常。神经放射学检查的主要发现是小脑萎缩。该病在兄弟姐妹中出现而在父母中无表现表明为隐性遗传。
