An unusual case of familial ALS and cerebellar ataxia.
作者信息
Yasser Sadia, Fecto Faisal, Siddique Teepu, Sheikh Kazim A, Athar Parveen
机构信息
Department of Neurology, University of Texas Medical School at Houston, 6431 Fannin Street, Houston, TX 77030, USA.
出版信息
Amyotroph Lateral Scler. 2010 Dec;11(6):568-70. doi: 10.3109/17482961003636874. Epub 2010 Jun 14.
PMID:20540686
Abstract
We report a case of familial amyotrophic lateral sclerosis (FALS) with clinical signs of cerebellar and posterior column involvement. The patient's work-up showed a known mutation (E100K) in the gene for Cu/Zn superoxide dismutase 1 (SOD1). Our case illustrates that extramotor symptoms, such as prominent cerebellar signs, can be seen in patients with FALS.
摘要
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