Parkinson's disease (PD) genetics: summary of key features

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

Parkinson's disease (PD) genetics: summary of key features. Autosomal dominant, Chromosome 4q, SNCA gene mutations. Fully referenced neurology checklist.

PARK 1

  • Autosomal dominant
  • Chromosome 4q
  • SNCA gene mutations
  • Alpha synuclein gene product
  • Early onset age: ≤ 50 years
  • Central hypoventilation

PARK 2 (Parkin)

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PARK 3

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PARK 4

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PARK 5

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PARK 6

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PARK 7

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PARK 8

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PARK 9 (Kufor Rakeb)

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PARK 10

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PARK 11

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PARK 12

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PARK 13

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PARK 14

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PARK 15

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PARK 16

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PARK 17

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PARK 18

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PARK 19A and 19B

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PARK 20

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PARK 21

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PARK 22

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PARK 23

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Perry syndrome

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Parkinsonism with intellectual disability

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References

  1. Dekker MCJ, Bonifati V, van Duijn CM. Parkinson’s disease: piecing together a genetic jigsaw. Brain 2003; 126:1722-1733.
  2. Klein C, Westenberger A. Genetics of Parkinson's disease. Cold Spring Harb Perspect Med 2012; 2:a008888.
  3. 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.
  4. 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.
  5. 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.
  6. And 50 more. Subscribe to see the full list

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