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

Author:

Azuma Reo1,Ishikawa Kinya2,Hirata Kosei1,Hashimoto Yuji2,Takahashi Makoto1,Ishii Kenji3,Inaba Akira1,Yokota Takanori2,Orimo Satoshi1

Affiliation:

1. Department of Neurology; Kanto Central Hospital; Tokyo Japan

2. Department of Neurology and Neurological Science; Tokyo Medical and Dental University; Tokyo Japan

3. Research Team for Neuroimaging, Tokyo Metropolitan Institute of Gerontology; Tokyo Japan

Funder

The Health and Labor Sciences Research Grants on Ataxic Diseases

The Ministry of Education, Culture, Sports, Science and Technology of Japan, and Core Research for Evolutional Science and Technology (CREST)

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Reference17 articles.

1. Autosomal-dominant striatal degeneration is caused by a mutation in the phosphodiesterase 8B geneAm;Appenzeller;J Hum Genet,2010

2. Cyclic nucleotide phosphodiesterases: molecular regulation to clinical use;Bender;Pharmacol Rev,2006

3. Bilateral symmetrical low density areas in the basal ganglia-a case with dysarthria and gait disturbance. [in Japanese];Uzawa;Clin Neurol,1984

4. Genomic organization, chromosomal localization, and alternative splicing of the human phosphodiesterase 8B gene;Hayashi;Biochem Biophys Res Commun,2002

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