Vucic Steve, Lye Tanya, Dunn Graham, Corbett Alastair
Concord Repatriation General Hospital, Concord NSW, Australia.
J Clin Neurosci. 2004 May;11(4):427-30. doi: 10.1016/S0967-5868(03)00157-7.
To describe the clinical, cognitive, neurophysiological and radiological features of autosomal recessive hereditary spastic paraparesis (ARHSP) with thin corpus callosum.
Two sisters with spastic paraparesis.
MRI brain scans demonstrated thinning of the corpus callosum. The clinical features were progressive spastic paraparesis beginning in the second decade, dysarthria, minor dystonia and chorea, distal weakness and cognitive impairment with frontal dysfunction. Motor compound action potentials are reduced and EMG demonstrated minor chronic denervation. Magnetic stimulation studies demonstrated increased threshold consistent with pyramidal system axonal loss.
AHRSP with thinned corpus callosum is a distinct clinical and genetic entity that may occur in non-Japanese individuals.
描述伴有胼胝体变薄的常染色体隐性遗传性痉挛性截瘫（ARHSP）的临床、认知、神经生理学和放射学特征。
两名患有痉挛性截瘫的姐妹。
脑部MRI扫描显示胼胝体变薄。临床特征为始于第二个十年的进行性痉挛性截瘫、构音障碍、轻度肌张力障碍和舞蹈症、远端肌无力以及伴有额叶功能障碍的认知障碍。运动复合动作电位降低，肌电图显示轻度慢性失神经支配。磁刺激研究表明阈值升高，与锥体系统轴突损失一致。
伴有胼胝体变薄的AHRSP是一种独特的临床和遗传实体，可能发生在非日本个体中。
