Autosomal dominant striatal degeneration
Definition:
References:
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[1]. G Kuhlenbäumer, et al. Autosomal dominant striatal degeneration (ADSD): clinical description and mapping to 5q13-5q14. Neurology. 2004 Jun 22;62(12):2203-8. [Content Brief]
[2]. Niccolò E Mencacci, et al. De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions. Am J Hum Genet. 2016 Apr 7;98(4):763-71. [Content Brief]
[3]. Orlando Graziani Povoas Barsottini, et al. Familial striatal degeneration: New mutation and neuroimaging clues. Neurology. 2015 Nov 17;85(20):1816-8. [Content Brief]
[4]. Reo Azuma, et al. A novel mutation of PDE8B Gene in a Japanese family with autosomal-dominant striatal degeneration. Mov Disord. 2015 Dec;30(14):1964-7. [Content Brief]
[5]. Silke Appenzeller, et al. Autosomal-dominant striatal degeneration is caused by a mutation in the phosphodiesterase 8B gene. Am J Hum Genet. 2010 Jan;86(1):83-7. [Content Brief]