A Novel Mutation of PDE8B Gene in a Japanese Family With Autosomal-Dominant Striatal Degeneration

作者：Azuma Reo; Ishikawa Kinya; Hirata Kosei; Hashimoto Yuji; Takahashi Makoto; Ishii Kenji; Inaba Akira; Yokota Takanori; Orimo Satoshi^*

来源：Movement Disorders, 2015, 30(14): 1964-1967.

DOI：10.1002/mds.26345

• autosomal-dominant striatal degeneration (ADSD)
• PDE8B gene
• Parkinson's disease
• PET
• MRI

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.

• 出版日期2015-12