KEGG   DISEASE: Autosomal dominant striatal degeneration
Entry
H01570                      Disease                                

Name
Autosomal dominant striatal degeneration
Description
Autosomal-dominant striatal degeneration (ADSD) is a rare autosomal-dominant movement disorder affecting the striatal part of the basal ganglia, with onset in the fourth to fifth decade. The main clinical features are mild, slowly progressive dysarthria and hypokinesia without any apparent reduction in life expectancy. Brain MRI shows distinctive lesions of the putamen and caudate nucleus appearing earlier than the onset of symptoms. Causal gene mutations are discovered in the cyclic nucleotide phosphodiesterase (PDE) genes.
Category
Nervous system disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Neurodegenerative diseases
   H01570  Autosomal dominant striatal degeneration
Pathway
hsa00230  Purine metabolism
Gene
PDE8B [HSA:8622] [KO:K18437]
PDE10A [HSA:10846] [KO:K18438]
Other DBs
MeSH: C563783
OMIM: 609161 616922
Reference
  Authors
Appenzeller S, Schirmacher A, Halfter H, Baumer S, Pendziwiat M, Timmerman V, De Jonghe P, Fekete K, Stogbauer F, Ludemann P, Hund M, Quabius ES, Ringelstein EB, Kuhlenbaumer G
  Title
Autosomal-dominant striatal degeneration is caused by a mutation in the phosphodiesterase 8B gene.
  Journal
Am J Hum Genet 86:83-7 (2010)
DOI:10.1016/j.ajhg.2009.12.003
Reference
  Authors
Kuhlenbaumer G, Ludemann P, Schirmacher A, De Vriendt E, Hunermund G, Young P, Hund-Georgiadis M, Schuierer G, Moller H, Ringelstein EB, Van Broeckhoven C, Timmerman V, Stogbauer F
  Title
Autosomal dominant striatal degeneration (ADSD): clinical description and mapping to 5q13-5q14.
  Journal
Neurology 62:2203-8 (2004)
DOI:10.1212/01.WNL.0000130485.89814.10
Reference
  Authors
Barsottini OG, Martins Pde M, Chien HF, Raskin S, Nunes RH, da Rocha AJ, Pedroso JL
  Title
Familial striatal degeneration: New mutation and neuroimaging clues.
  Journal
Neurology 85:1816-8 (2015)
DOI:10.1212/WNL.0000000000002128
Reference
  Authors
Azuma R, Ishikawa K, Hirata K, Hashimoto Y, Takahashi M, Ishii K, Inaba A, Yokota T, Orimo S
  Title
A novel mutation of PDE8B Gene in a Japanese family with autosomal-dominant striatal degeneration.
  Journal
Mov Disord 30:1964-7 (2015)
DOI:10.1002/mds.26345
Reference
  Authors
Mencacci NE, Kamsteeg EJ, Nakashima K, R'Bibo L, Lynch DS, Balint B, Willemsen MA, Adams ME, Wiethoff S, Suzuki K, Davies CH, Ng J, Meyer E, Veneziano L, Giunti P, Hughes D, Raymond FL, Carecchio M, Zorzi G, Nardocci N, Barzaghi C, Garavaglia B, Salpietro V, Hardy J, Pittman AM, Houlden H, Kurian MA, Kimura H, Vissers LE, Wood NW, Bhatia KP
  Title
De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions.
  Journal
Am J Hum Genet 98:763-71 (2016)
DOI:10.1016/j.ajhg.2016.02.015
LinkDB

» Japanese version

DBGET integrated database retrieval system