Autosomal dominant striatal degeneration

Definition:

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.

References:

[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]

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