A novel mutation of PDE8B Gene in a Japanese family with autosomal-dominant striatal degeneration

Movement Disorders : Official Journal of the Movement Disorder Society
Reo AzumaSatoshi Orimo

Abstract

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. 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. 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. 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.

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Citations

Jul 6, 2016·The EPMA Journal·Jiri PolivkaOndrej Topolcan
Jan 8, 2017·Molecular Neurobiology·Dominic Ngima Nthenge-Ngumbau, Kochupurackal P Mohanakumar
May 23, 2021·Parkinsonism & Related Disorders·Yi-Min SunYue Zhang
Jun 23, 2021·Movement Disorders : Official Journal of the Movement Disorder Society·Roberto ErroKailash P Bhatia

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