PARK14 genetic Parkinson's disease (PD)

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

PARK14 genetic Parkinson's disease (PD). This is caused by mutations in the PLA2G6 gene on chromosome 22q. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the PLA2G6 gene on chromosome 22q
  • The transmission is autosomal recessive
  • It presents as rapidly progressive adult-onset dystonia parkinsonism
  • The median onset age is 23 years
  • Some features are similar to PARK9 (Kufor Rakeb)

Movement disorders

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Ophthalmic features

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Other clinical features

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Magnetic resonance imaging (MRI) brain: features

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Treatment

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References

  1. Paisan-Ruiz C, Bhatia KP, Li A, et al. Characterization of PLA2G6 as a locus for dystonia-parkinsonism. Ann Neurol 2009; 65:19-23. 
  2. Magrinelli F, Mehta S, Di Lazzaro G, et al. Dissecting the phenotype and genotype of PLA2G6-related Parkinsonism. Mov Disord 2021 (Online ahead of print).
  3. Yoshino H, Tomiyama H, Tachibana N, et al. Phenotypic spectrum of patients with PLA2G6 mutation and PARK14-linked parkinsonism. Neurology 2010; 75:1356-1361.

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