PARK4 genetic Parkinson's disease (PD)

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

PARK4 genetic Parkinson's disease (PD). This is caused by SNCA gene mutations or multiplication. Fully referenced neurology checklist.

Genetics

  • This is caused by SNCA gene mutations or multiplication
  • The gene is on chromosome 4q
  • The transmission is autosomal dominant
  • There are widespread Lewy bodies

Neurological features

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Psychiatric features

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Treatment

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References

  1. Fuchs J, Nilsson C, Kachergus J, et al. Phenotypic variation in a large Swedish pedigree due to SNCA duplication and triplication. Neurology 2007; 68:916-922. 
  2. Farrer M, Kachergus J, Forno L, et al. Comparison of kindreds with parkinsonism and alpha-synuclein genomic multiplications. Ann Neurol 2004; 55:174-179.
  3. Muenter MD, Forno LS, Hornykiewicz O, et al. Hereditary form of parkinsonism-dementia. Ann Neurol 1998; 43:768-781.

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