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

Autor:	Matsushita M; Department of Internal Medicine IV, Division of Neurology, Osaka Medical and Pharmaceutical University Faculty of Medicine., Nakamura Y; Department of Internal Medicine IV, Division of Neurology, Osaka Medical and Pharmaceutical University Faculty of Medicine., Hosokawa T; Department of Internal Medicine IV, Division of Neurology, Osaka Medical and Pharmaceutical University Faculty of Medicine., Takahashi Y; Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry., Mizusawa H; Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry., Arawaka S; Department of Internal Medicine IV, Division of Neurology, Osaka Medical and Pharmaceutical University Faculty of Medicine.
Jazyk:	japonština
Zdroj:	Rinsho shinkeigaku = Clinical neurology [Rinsho Shinkeigaku] 2024 Jan 20; Vol. 64 (1), pp. 28-32. Date of Electronic Publication: 2023 Dec 08.
DOI:	10.5692/clinicalneurol.cn-001910
Abstrakt:	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.
Databáze:	MEDLINE
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