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• Vol.57 No.11
• CLINICA NEUROL, 57: 685−690, 2017
• Vol.57 No.11 contents

Case Report

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

Takaki Taniguchi, M.D.¹⁾, Youichi Hokezu, M.D.¹⁾, Takashi Okada, M.D.¹⁾, Masato Ishibashi, M.D.¹⁾, Akihiro Hashiguchi, M.D., Ph.D.²⁾, Eiji Matsuura, M.D., Ph.D.²⁾ and Hiroshi Takashima, M.D., Ph.D.²⁾

¹⁾Department of Neurology, Oita Prefectural Hospital
²⁾Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences

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.
Full Text of this Article in Japanese PDF (848K)

(CLINICA NEUROL, 57: 685−690, 2017)
key words: familial amyotrophic lateral sclerosis, spastic paraplegia, sensory disturbance, SETX gene

(Received: 12-Jan-17)