PARK15 genetic Parkinson's disease (PD)

Evidence-based neurology checklist on park15 genetic parkinson's disease (pd): Genetics This is caused by mutations in the FBXO7 gene on chromosome 22q The transmission is autosomal recessive It manifests as a parkinsonian-pyramidal syndrome (PPS) Clinical features Magnetic resonance imaging (MRI)…

Genetics

  • This is caused by mutations in the FBXO7 gene on chromosome 22q
  • The transmission is autosomal recessive
  • It manifests as a parkinsonian-pyramidal syndrome (PPS)

Clinical features

Magnetic resonance imaging (MRI) brain

Treatment

References

  1. Di Fonzo A, Dekker MC, Montagna P, et al. FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome. Neurology 2009; 72:240-245. 
  2. Shojaee S, Sina F, Banihosseini SS, et al. Genome-wide linkage analysis of a Parkinsonian-pyramidal syndrome pedigree by 500 K SNP arrays. Am J Hum Genet 2008; 82:1375-1384. 
  3. Nisipeanu P, Kuritzky A, Korczyn AD. Familial levodopa-responsive parkinsonian-pyramidal syndrome. Mov Disord 1994; 9:673-675.
  4. Panagariya A, Sharma B, Dev A. Pallido-pyramidal syndrome: a rare entity. Indian J Med Sci 2007; 61:156-157.
  5. Srivastava T, Goyal V, Singh S, Shukla G, Behari M. Pallido-pyramidal syndrome with blepharospasm and good response to levodopa. J Neurol 2005; 252:1537-1538.

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