A amyotrophic lateral sclerosis (ALS) 4 family misdiagnosed as hereditary spastic paraplegia-a case report

Rinshō shinkeigaku = Clinical neurology
Takaki TaniguchiHiroshi Takashima

Abstract

We report a 44 years old man with slowly progressive muscular atrophy of the extremities for over 30 years. He experienced difficulty in walking in his 10's and was diagnosed as hereditary spastic paraplegia (HSP) in his 20's. And then, muscle atrophy of the extremities slowly progressed especially in his distal muscles. Sensory axonal neuropathy was detected with sural nerve biopsy. His father and uncle have been diagnosed as HSP in their early days. His father noticed weakness of his leg in his 20's. He lost motor function of the leg in his 60's. In addition, marked disturbance of thermal sensation, vibration, and sense of position were found by physical examination. Our genetic study detected senataxin (SETX) gene mutation (c.8C>T,p.T3I) in the blood of those two patients, and they had been identified as family cases of amyotrophic lateral sclerosis (ALS) 4. As clinical symptoms of ALS4 would be similar to those of HSP at the onset, we suggest considering ALS4 in seeing patients with HSP without gene diagnosis.

References

Aug 4, 1999·Brain : a Journal of Neurology·B A RabinD R Cornblath
Feb 11, 2004·Nature Genetics·Maria-Céu MoreiraMichel Koenig
Apr 24, 2004·American Journal of Human Genetics·Ying-Zhang ChenPhillip F Chance
May 12, 2012·Journal of Neurology, Neurosurgery, and Psychiatry·Toru SaigaJun-ichi Kira
Oct 17, 2015·Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration·M Felícitas Domínguez-BerjónJenaro Astray-Mochales

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