SCA8遺伝子のCTA/CTGリピート数増大をみとめた若年性パーキンソニズムの1例  [in Japanese] A case of juvenile parkinsonism with expanded SCA8 CTA/CTG repeats  [in Japanese]

Access this Article

Author(s)

Abstract

症例は31歳男性である.2年前より右下肢のふるえが出現,1年前よりふるえが両下肢に拡大した.安静時主体の振戦がめだち,右優位のパーキンソニズムを呈していた.遺伝子検査で,SCA8遺伝子のCTA/CTGリピート伸長をみとめた.本例はSCA8の典型的な症状である失調はみとめていなかった.パーキンソンニズムに対しL-DOPAの投与をおこなったところ,症状の明らかな改善をみとめた.SCA8リピートの異常伸長は健常者およびその他の疾患でも報告されているが,本例は従来の報告例よりもリピート数が多く,病的意義があると考えられた.本例でのひき続きの臨床症状の経過観察と,さらなる症例の集積が必要である.

A 31-year-old man was referred to our hospital because of progressive tremor and clumsiness in his limbs and trunk. His symptoms were started in the right leg then gradually spread to all extremities as well as his trunk for 2 years. Neurological examinations revealed muscle rigidity with resting tremor predominantly right limbs. Akinesia and retropulsion were positive. Neither pyramidal tract sign nor cerebellar ataxia was detected. Genetic testing showed the expansion of SCA8 CTA/CTG repeats as 28/141 repeats. Though moderate expansion (less than 92) of SCA8 repeats has been reported in healthy subjects and patients with various diseases, the extraordinary long expansion of CTA/CTG repeats in SCA8 gene in our patient could be significantly pathological. 600 mg/day of L-DOPA clearly improved his symptoms. Dedicate follow up of the clinical course of our patient and the accumulation of the further cases is essential.

Journal

  • Rinsho Shinkeigaku

    Rinsho Shinkeigaku 53(4), 278-282, 2013

    Societas Neurologica Japonica

Codes

Page Top