A case of juvenile parkinsonism with expanded SCA8 CTA/CTG repeats

• Miyawaki Toko

  Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine

• Sekiguchi Kenji

  Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine

• Yasui Naoko

  Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine

• Ueda Takehiro

  Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine

• Kanda Fumio

  Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine

• Toda Tatsushi

  Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine

Bibliographic Information

Other Title

• 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
• 症例報告 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
• ショウレイ ホウコク SCA8 イデンシ ノ CTA/CTG リピートスウ ゾウダイ オ ミトメタ ジャクネンセイ パーキンソニズム ノ 1レイ

Abstract

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

Keywords

• genetic testing
• Parkinson’s disease
• spinocerebellar ataxia
• triplet repeat diseases

Details

• CRID: 1390001205035789184
• NII Article ID: 40019663168
• NII Article ID: 130004921088
• NII Book ID: AN00253207
• DOI: 10.5692/clinicalneurol.53.278
• COI: 1:STN:280:DC%2BC3srntFeqsQ%3D%3D
• ISSN: 18820654
• ISSN: 0009918X
• NDL BIB ID: 024608388
• PubMed: 23603541
• Web Site: https://ndlsearch.ndl.go.jp/books/R000000004-I024608388
• Web Site: https://search.jamas.or.jp/link/ui/2013199200
• Text Lang: ja
• Data Source:
  • JaLC
  • NDL
  • Crossref
  • PubMed
  • CiNii Articles
  • KAKEN
• Abstract License Flag: Disallowed