An unusual case of familial ALS and cerebellar ataxia

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.

Key words::

• ALS
• FALS
• SOD1
• cerebellar
• extramotor

Acknowledgements

Kazim Sheikh is supported by NIH/NINDS (NS42888 and NS54962) grants.

Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.