PARK1 genetic Parkinson's disease (PD)

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

PARK1 genetic Parkinson's disease (PD). This is caused by mutations in the SNCA gene on chromosome 4q. Fully referenced neurology checklist.

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

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Treatment

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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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