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

Movement Disorders

Volumn 30, Issue 14, 2015, Pages 1964-1967

  Azuma, Reo ^a   Ishikawa, Kinya ^b   Hirata, Kosei ^a   Hashimoto, Yuji ^b   Takahashi, Makoto ^a   Ishii, Kenji ^c   Inaba, Akira ^a   Yokota, Takanori ^b   Orimo, Satoshi ^a  

^a Mutual Aid Association of Public School Teachers   (Japan)

^b TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^c TOKYO METROPOLITAN INSTITUTE OF GERONTOLOGY   (Japan)

Author keywords

Autosomal dominant striatal degeneration (ADSD); MRI; Parkinson's disease; PDE8B gene; PET

Indexed keywords

CYCLIC NUCLEOTIDE PHOSPHODIESTERASE; CYCLIC NUCLEOTIDE PHOSPHODIESTERASE 8BETA; UNCLASSIFIED DRUG; CYCLIC AMP PHOSPHODIESTERASE; PDE8B PROTEIN, HUMAN;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT STRIATAL DEGENERATION; CASE REPORT; CEREBROSPINAL FLUID EXAMINATION; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DEGENERATIVE DISEASE; DYSARTHRIA; EXON; GAIT DISORDER; GENETIC ANALYSIS; HUMAN; JAPANESE (PEOPLE); MALE; MUSCLE RIGIDITY; NEUROIMAGING; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; WALKING DIFFICULTY; BRAIN; CORPUS STRIATUM; FEMALE; GENETICS; JAPAN; MUTATION; NERVE DEGENERATION; PATHOLOGY; PEDIGREE;

3',5'-CYCLIC-AMP PHOSPHODIESTERASES; ADULT; AGED; BRAIN; CORPUS STRIATUM; FEMALE; HUMANS; JAPAN; MALE; MUTATION; NERVE DEGENERATION; PEDIGREE;

EID: 84955185160     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.26345     Document Type: Article

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