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• Vol.64 No.1
• CLINICA NEUROL, 64: 28−32, 2024
• Vol.64 No.1 contents

Case Report

Spinocerebellar ataxia 2 develop lower motor neuron involvement as an initial symptom: a case report

Manami Matsushita, M.D.^1）, Yoshitsugu Nakamura, M.D., Ph.D.^1）, Takafumi Hosokawa, M.D., Ph.D.^1）, Yuji Takahashi, M.D., Ph.D.^2）, Hidehiro Mizusawa, M.D., Ph.D.^2） and Shigeki Arawaka, M.D., Ph.D.^1）

¹⁾ Department of Internal Medicine IV, Division of Neurology, Osaka Medical and Pharmaceutical University Faculty of Medicine
²⁾ Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry

A 36-year-old man has developed weakness of left thumb and atrophy of left thenar muscle and left first dorsal interosseous muscle without sensory disturbance for a year. A nerve conduction study revealed decreases in the amplitude of compound muscle action potentials and occurrence of F-waves on left medial nerve. Needle electromyography examination revealed positive sharp waves and later recruited motor units on left abductor pollicis brevis muscle. Brain MRI showed atrophy of bilateral cerebellar hemisphere. His grandmother and his two uncles have been diagnosed as spinocerebellar degeneration. After discharge, he developed bilateral lower limb ataxia. Genetic analysis showed heterozygous CAG repeat expansion (19/39) in ATXN2 gene, being diagnosed as spinocerebellar ataxia 2 (SCA2). A previous report has shown that motor neuron involvement is recognized as part of SCA2 in the same pedigree with full CAG repeat expansions in ATXN2 gene. We here report the patient with lower motor neuron involvement as an initial symptom of SCA2.
Full Text of this Article in Japanese PDF (1983K)

(CLINICA NEUROL, 64: 28−32, 2024)
key words: spinocerebellar ataxia 2, motor neuron involvement, amyotrophic lateral sclerosis, ATXN2 gene

(Received: 26-Jul-23)