title: A novel mutation of PDE8B Gene in a Japanese family with autosomal-dominant striatal degeneration.
abstract: BACKGROUND
  Autosomal-dominant striatal degeneration is a rare autosomal-dominant neurodegenerative movement disorder characterized by slowly progressive parkinsonism. Recently, a mutation of the cyclic nucleotide phosphodiesterase 8B gene was reported to be a causal gene mutation of this disease.
  
  
  METHODS
  We report on the clinical characteristics of 2 patients of a Japanese family with autosomal-dominant striatal degeneration and the result of gene mutation analysis of this family.
  
  
  RESULTS
  Clinical features of the patients are slowly progressive parkinsonism and brain MRI showing high signal intensity in T2-weighted images in the striatum. We found a heterozygous nonsense mutation in the first exon of cyclic nucleotide phosphodiesterase 8B gene, which is predicted to disrupt all important functional domains of the cyclic nucleotide phosphodiesterase 8B protein.
  
  
  CONCLUSIONS
  This family is the second family with autosomal-dominant striatal degeneration after the first German family, confirming that cyclic nucleotide phosphodiesterase 8B gene is the causative gene for this disease.
authors.affiliation: Department of Neurology, Kanto Central Hospital, Tokyo, Japan.
authors.forename: Reo
authors.initials: R
authors.lastname: Azuma
authors.affiliation: Department of Neurology and Neurological Science, Tokyo Medical and Dental University, Tokyo, Japan.
authors.forename: Kinya
authors.initials: K
authors.lastname: Ishikawa
authors.affiliation: Department of Neurology, Kanto Central Hospital, Tokyo, Japan.
authors.forename: Kosei
authors.initials: K
authors.lastname: Hirata
authors.affiliation: Department of Neurology and Neurological Science, Tokyo Medical and Dental University, Tokyo, Japan.
authors.forename: Yuji
authors.initials: Y
authors.lastname: Hashimoto
authors.affiliation: Department of Neurology, Kanto Central Hospital, Tokyo, Japan.
authors.forename: Makoto
authors.initials: M
authors.lastname: Takahashi
authors.affiliation: Research Team for Neuroimaging, Tokyo Metropolitan Institute of Gerontology, Tokyo, Japan.
authors.forename: Kenji
authors.initials: K
authors.lastname: Ishii
authors.affiliation: Department of Neurology, Kanto Central Hospital, Tokyo, Japan.
authors.forename: Akira
authors.initials: A
authors.lastname: Inaba
authors.affiliation: Department of Neurology and Neurological Science, Tokyo Medical and Dental University, Tokyo, Japan.
authors.forename: Takanori
authors.initials: T
authors.lastname: Yokota
authors.affiliation: Department of Neurology, Kanto Central Hospital, Tokyo, Japan.
authors.forename: Satoshi
authors.initials: S
authors.lastname: Orimo
mesh_terms: D015105:3',5'-Cyclic-AMP Phosphodiesterases / Q000235:genetics*; D000328:Adult; D000368:Aged; D001921:Brain / Q000473:pathology*; D003342:Corpus Striatum / Q000473:pathology*; D005260:Female; D006801:Humans; D007564:Japan; D008297:Male; D009154:Mutation; D009410:Nerve Degeneration / Q000151:congenital* / Q000235:genetics / Q000473:pathology; D010375:Pedigree
chemical_list: D015105:3',5'-Cyclic-AMP Phosphodiesterases; C468781:PDE8B protein, human
keywords: MRI; PDE8B gene; PET; Parkinson's disease; autosomal-dominant striatal degeneration (ADSD)