Neurogenetics

, Volume 5, Issue 4, pp 215–221

Fine mapping of 16q-linked autosomal dominant cerebellar ataxia type III in Japanese families

  • Ryuki Hirano
  • Hiroshi Takashima
  • Ryuichi Okubo
  • Keiko Tajima
  • Yuji Okamoto
  • Shimon Ishida
  • Kazuhito Tsuruta
  • Takayo Arisato
  • Hitoshi Arata
  • Masanori Nakagawa
  • Mitsuhiro Osame
  • Kimiyoshi Arimura
Original Article

DOI: 10.1007/s10048-004-0194-z

Cite this article as:
Hirano, R., Takashima, H., Okubo, R. et al. Neurogenetics (2004) 5: 215. doi:10.1007/s10048-004-0194-z

Abstract.

The autosomal dominant cerebellar ataxias (ADCAs) are a clinically and genetically heterogeneous group of disorders. To date, at least 11 genes and 13 additional loci have been identified in ADCAs. Despite phenotypic differences, spinocerebellar ataxia 4 (SCA4) and Japanese 16q-linked ADCA type III map to the same region of 16q22.1. We report four Japanese families with pure cerebellar ataxia and a disease locus at 16q22.1. Our families yielded a peak lod score of 6.01 at marker D16S3141. To refine the candidate region, we carried out genetic linkage studies in four pedigrees with a high density set of DNA markers from chromosome 16q22.1. Our linkage data suggest that the disease locus for 16q-ADCA type III is within the 1.25-Mb interval delineated by markers 17msm and CTTT01. We screened for mutations in 36 genes within the critical region. Our critical region lies within the linkage interval reported for SCA4 and for Japanese 16q-ADCA type III. These data suggest that the ADCA that we have characterized is allelic with SCA4 and Japanese 16q-linked ADCA type III.

Keywords

Chromosome 16Positional cloning16q-ADCCASpinocerebellar ataxia 4Japan

Copyright information

© Springer-Verlag 2004

Authors and Affiliations

  • Ryuki Hirano
    • 1
  • Hiroshi Takashima
    • 1
  • Ryuichi Okubo
    • 1
  • Keiko Tajima
    • 1
  • Yuji Okamoto
    • 1
  • Shimon Ishida
    • 2
  • Kazuhito Tsuruta
    • 3
  • Takayo Arisato
    • 1
  • Hitoshi Arata
    • 1
  • Masanori Nakagawa
    • 4
  • Mitsuhiro Osame
    • 1
  • Kimiyoshi Arimura
    • 1
  1. 1.Department of Neurology and GeriatricsKagoshima University School of MedicineKagoshima 890-8520Japan
  2. 2.First Department of Internal MedicineOsaka Medical CollegeOsakaJapan
  3. 3.Department of NeurologyKoga General HospitalMiyazakiJapan
  4. 4.Department of Neurology and GerontologyKyoto Prefectural University of MedicineJapan