0
We're unable to sign you in at this time. Please try again in a few minutes.
Retry
We were able to sign you in, but your subscription(s) could not be found. Please try again in a few minutes.
Retry
There may be a problem with your account. Please contact the AMA Service Center to resolve this issue.
Contact the AMA Service Center:
Telephone: 1 (800) 262-2350 or 1 (312) 670-7827  *   Email: subscriptions@jamanetwork.com
Error Message ......
Review |

Genetic Movement Disorders in Patients of Jewish Ancestry

Rivka Inzelberg, MD1,2; Sharon Hassin-Baer, MD1,2; Joseph Jankovic, MD3
[+] Author Affiliations
1Parkinson’s Disease and Movement Disorders Clinic, Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel
2Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Israel
3Parkinson’s Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, Texas
JAMA Neurol. 2014;71(12):1567-1572. doi:10.1001/jamaneurol.2014.1364.
Text Size: A A A
Published online

Importance  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.

Evidence Review  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.

Findings  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 and Relevance  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.

Figures in this Article

Figures

Place holder to copy figure label and caption
Figure 1.
Mutations in Ashkenazi Jewish Patients With Apparent Sporadic Parkinson Disease (PD)

About one-third of Ashkenazi Jewish patients with sporadic PD carry a mutation. Data are derived for the gene encoding leucine-rich repeat kinase 2 (LRRK2) (reported range, 6%-3%)26; the glucocerebrosidase gene (GBA) (calculated as 18%)7; LRRK2 and GBA (calculated as <1%)7; and the gene encoding for sphingomyelin phosphodiesterase 1 (SMPD1) associated with type A Niemann-Pick disease (reported without mentioning sporadic or familial etiology, 1%).8 In case of discrepancies between series, the largest reported values were used.

Graphic Jump Location
Place holder to copy figure label and caption
Figure 2.
Mutations in Ashkenazi Jewish Patients With Familial Parkinson Disease (PD)

Includes patients with first- or second-degree relatives with PD. About 40% of Ashkenazi Jewish patients with familial PD carry a mutation. Data are derived for the gene encoding leucine-rich repeat kinase 2 (LRRK2) (reported range 24%-33% [calculated as 30%])26; the glucocerebrosidase gene (GBA) (calculated as 17%)7; and the gene encoding for sphingomyelin phosphodiesterase 1 (SMPD1) associated with type A Niemann-Pick disease (reported without mentioning sporadic or familial etiology, 1%).8 In case of discrepancies between series, the largest reported values were used.

Graphic Jump Location

Tables

References

Correspondence

CME
Also Meets CME requirements for:
Browse CME for all U.S. States
Accreditation Information
The American Medical Association is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians. The AMA designates this journal-based CME activity for a maximum of 1 AMA PRA Category 1 CreditTM per course. Physicians should claim only the credit commensurate with the extent of their participation in the activity. Physicians who complete the CME course and score at least 80% correct on the quiz are eligible for AMA PRA Category 1 CreditTM.
Note: You must get at least of the answers correct to pass this quiz.
Please click the checkbox indicating that you have read the full article in order to submit your answers.
Your answers have been saved for later.
You have not filled in all the answers to complete this quiz
The following questions were not answered:
Sorry, you have unsuccessfully completed this CME quiz with a score of
The following questions were not answered correctly:
Commitment to Change (optional):
Indicate what change(s) you will implement in your practice, if any, based on this CME course.
Your quiz results:
The filled radio buttons indicate your responses. The preferred responses are highlighted
For CME Course: A Proposed Model for Initial Assessment and Management of Acute Heart Failure Syndromes
Indicate what changes(s) you will implement in your practice, if any, based on this CME course.

Multimedia

Some tools below are only available to our subscribers or users with an online account.

1,096 Views
1 Citations
×

Sign in

Purchase Options

• Buy this article
• Subscribe to the journal
• Rent this article ?

Related Content

Customize your page view by dragging & repositioning the boxes below.

Articles Related By Topic
Related Collections
PubMed Articles
Jobs
brightcove.createExperiences();