title: Genetic movement disorders in patients of Jewish ancestry.
abstract: OBJECTIVE
  Genetic diseases often cluster in different ethnic groups and may present with recognizable unique clinical manifestations.
  
  
  OBJECTIVE
  To summarize current knowledge about movement disorders overrepresented among patients of Jewish ancestry.
  
  
  METHODS
  We searched PubMed and the OMIM and Israeli National Genetic Databases for articles published from 1969 through March 31, 2014, using the search terms Parkinson's disease,movement disorders, ataxia, dystonia, chorea, and Creutzfeldt-Jakob with and Jewish. The final reference list was generated by giving priority to articles directly related to the topic, articles with the latest information, and comprehensive but relevant reviews.
  
  
  RESULTS
  About one-third of patients with sporadic Parkinson disease (PD) and more than 40% of patients with familial PD of Ashkenazi Jewish descent likely carry the G2019S mutation in the LRRK2 gene, a mutation in the glucocerebrosidase (GBA) gene, or both. This finding contrasts with only a 10% frequency of these mutations in patients with PD who are of non-Jewish ancestry. A dystonia due to a TOR1A gene mutation is responsible for most early-onset autosomal dominant dystonia, and 90% of Ashkenazi Jews who develop early-onset disease have TOR1A-related dystonia. Familial Creutzfeldt-Jakob disease and cerebrotendinous xanthomatosis tend to cluster among Jews of North African descent, and Machado-Joseph disease is particularly frequent in Yemenite Jews.
  
  
  CONCLUSIONS
  Genetic forms of PD are much more common in patients of Ashkenazi Jewish ancestry with sporadic and familial PD than in the non-Jewish population. The recognition of the particular movement disorder phenotype, coupled with information about the ethnic origin of the patients, may point to specific genetic testing and lead to early and correct diagnosis.
authors.affiliation: Parkinson's Disease and Movement Disorders Clinic, Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel2Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Israel.
authors.forename: Rivka
authors.initials: R
authors.lastname: Inzelberg
authors.affiliation: Parkinson's Disease and Movement Disorders Clinic, Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel2Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Israel.
authors.forename: Sharon
authors.initials: S
authors.lastname: Hassin-Baer
authors.affiliation: Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, Texas.
authors.forename: Joseph
authors.initials: J
authors.lastname: Jankovic
mesh_terms: D006801:Humans; D007585:Jews / Q000208:ethnology / Q000235:genetics*; D009069:Movement Disorders / Q000208:ethnology / Q000235:genetics*; D010300:Parkinson Disease / Q000208:ethnology / Q000235:genetics*