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

Evidence-based neurology checklist on parkinson's disease (pd) genetics: summary of key features: PARK 1 Autosomal dominant Chromosome 4q SNCA gene mutations Alpha synuclein gene product Early onset age: ≤ 50 years Central hypoventilation PARK 2 (Parkin) PARK 3 PARK 4 PARK 5 PARK 6 PARK 7 PARK 8…

PARK 1

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

PARK 2 (Parkin)

PARK 3

PARK 4

PARK 5

PARK 6

PARK 7

PARK 8

PARK 9 (Kufor Rakeb)

PARK 10

PARK 11

PARK 12

PARK 13

PARK 14

PARK 15

PARK 16

PARK 17

PARK 18

PARK 19A and 19B

PARK 20

PARK 21

PARK 22

PARK 23

Perry syndrome

Parkinsonism with intellectual disability

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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