Autosomal dominant striatal degeneration (ADSD)
Evidence-based neurology checklist on autosomal dominant striatal degeneration (adsd): 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 Variants Magnetic resonance imaging (MRI)…
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
Variants
Magnetic resonance imaging (MRI) brain: features
Differential diagnosis
Treatment
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.
- And 1 more. Subscribe to see the full list
