PARK23 genetic Parkinson's disease (PD)

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

PARK23 genetic Parkinson's disease (PD). This is caused by mutations in the VPS13C gene on chromosome 15q. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the VPS13C gene on chromosome 15q
  • The transmission is autosomal recessive
  • Lewy bodies are present

Clinical features

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Magnetic resonance imaging (MRI): features

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Treatment

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References

  1. Lesage S, Drouet V, Majounie E, et al; French Parkinson's Disease Genetics Study (PDG); International Parkinson's Disease Genomics Consortium (IPDGC). Loss of VPS13C Function in autosomal-recessive parkinsonism causes mitochondrial dysfunction and increases PINK1/Parkin-dependent mitophagy. Am J Hum Genet 2016; 98:500-513.
  2. Rudakou U, Ruskey JA, Krohn L, et al. Analysis of common and rare VPS13C variants in late-onset Parkinson disease. Neurol Genet 2020; 6:385. 

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