An unusual case of familial ALS and cerebellar ataxia

作者：Yasser Sadia; Fecto Faisal; Siddique Teepu; Sheikh Kazim A; Athar Parveen^*

来源：Amyotrophic Lateral Sclerosis, 2010, 11(6): 568-570.

DOI：10.3109/17482961003636874

• ALS
• FALS
• SOD1
• cerebellar
• extramotor

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.

• 出版日期2010-12
• 单位西北大学