一个荷兰大家族中的遗传性共济失调。磁共振成像结果
Heredo-ataxia in a large Dutch pedigree. M.R.I. findings.
作者信息
Vliegenthart W E, Vielvoye G J, Kuyt L P
机构信息
Department of Neurology, Oudenrijn Hospital, Utrecht, The Netherlands.
出版信息
Clin Neurol Neurosurg. 1991;93(4):275-81. doi: 10.1016/0303-8467(91)90091-3.
PMID:1665760
Abstract
One segment of a large Dutch pedigree with heredo-ataxia is presented. The clinical and genetic features of the disease, together with the M.R.I. findings, indicate the diagnosis of autosomal dominant late onset olivo-ponto-cerebellar atrophy. The clinical picture remained invariant through successive generations. Emphasis is put on the diagnostic usefulness of M.R.I. technique in the absence of neuropathological data.
摘要
本文展示了一个患有遗传性共济失调的大型荷兰家系中的一个分支。该疾病的临床和遗传特征，以及磁共振成像（MRI）结果，提示诊断为常染色体显性迟发性橄榄体脑桥小脑萎缩。连续几代人的临床症状保持不变。在缺乏神经病理学数据的情况下，强调了MRI技术的诊断价值。
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