PARK1 genetic Parkinson's disease (PD)

Evidence-based neurology checklist on park1 genetic parkinson's disease (pd): Genetics This is caused by mutations in the SNCA gene on chromosome 4q The gene product is alpha synuclein The transmission is autosomal dominant It is associated with widespread Lewy bodies Clinical features Treatment

Genetics

  • This is caused by mutations in the SNCA gene on chromosome 4q
  • The gene product is alpha synuclein
  • The transmission is autosomal dominant
  • It is associated with widespread Lewy bodies

Clinical features

Treatment

References

  1. Golbe LI, Di Iorio G, Bonavita V, Miller DC, Duvoisin RC. A large kindred with autosomal dominant Parkinson's disease. Ann Neurol 1990; 27:276-282.
  2. Spira PJ, Sharpe DM, Halliday G, Cavanagh J, Nicholson GA. Clinical and pathological features of a Parkinsonian syndrome in a family with an Ala53Thr alpha-synuclein mutation. Ann Neurol 2001; 49:313-319.
  3. Martikainen MH, Päivärinta M, Hietala M, Kaasinen V. Clinical and imaging findings in Parkinson disease associated with the A53E SNCA mutation. Neurol Genet 2015; 1:e27.

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