Autosomal dominant striatal degeneration (ADSD)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Autosomal dominant striatal degeneration (ADSD). This is caused by mutations in the PDE8B gene on chromosome 5q. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the PDE8B gene on chromosome 5q
- The transmission is autosomal dominant
- The onset is in the 4th to 5th decades
Clinical features
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Variants
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Magnetic resonance imaging (MRI) brain: features
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Differential diagnosis
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Treatment
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References
- Barsottini OG, Martins Pde M, et al. Familial striatal degeneration: new mutation and neuroimaging clues. Neurology 2015; 85:1816-1818.
- Appenzeller S, Schirmacher A, Halfter H, et al. Autosomal-dominant striatal degeneration is caused by a mutation in the phosphodiesterase 8B gene. Am J Hum Genet 2010; 86:83-87.
- Kuhlenbäumer G, Lüdemann P, Schirmacher A, et al. Autosomal dominant striatal degeneration (ADSD): clinical description and mapping to 5q13-5q14. Neurology 2004; 62:2203-2208.
- Azuma R, Ishikawa K, Hirata K, et al. A novel mutation of PDE8B Gene in a Japanese family with autosomal-dominant striatal degeneration. Mov Disord 2015; 30:1964-1967.
- Sun YM, Li HQ, Zhang Y. Tremor without parkinsonism: a new phenotype of autosomal-dominant striatal degeneration. Parkinsonism Relat Disord 2021; 87:122-123.
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