Abstract Details

Title Primary Dystonias and Genetic Disorders with Dystonia as Significant Feature of the Phenotype: Current Perspectives

Topic Movement Disorders

Presentation(s) P02 - (-)

Poster/Presentation
Number 083

Objective

Background BACKGROUND: Dystonia is probably the most common movement disorder in clinical practice and classified in several ways, including by clinical phenomenology or by underlying etiology. By advances of genetics, including contemporary genomic technologies, there is a growing understanding of the molecular underpinnings of genetically determined dystonias. The intricacy of information requires a user friendly, novel database that may efficiently serve clinicians to inform of advances of the field and to diagnose and manage these often complex cases.

Design/Methods DESIGN/METHODS: We have reviewed the literature and genetic databases pertaining to primary dystonias and genetic conditions with dystonia as characteristic symptom. We used the following sources: PubMed, OMIM, Gene, dbGAP, GeneReviews, GeneTests (all by NCBI), HUGO Gene Nomenclature Committee (HGNC), GeneCards, Genetics Home Reference (GHR), UCSC Genome Bioinformatics Site and GENATLAS.

Results RESULTS: The detailed search up to October 1st, 2012 , identified 22 hereditary primary dystonias (DYT1 to DYT 22) that are mostly monogenic disorders and a larger group (> 70) Mendelian genetic syndromes in which dystonia is one of the characteristic clinical features. We tabulated the findings indicating the name of the conditions, pattern of inheritance, chromosome and gene abnormality, clinical features, relevant ancillary tests and key references. In addition, we also organized the dataset driven by defining clinical symptoms and signs.

Conclusions CONCLUSIONS: The most up-to-date information on genetically determined primary and syndromic dystonias is presented for immediate reference to benefit practicing adult and pediatric neurologists. Further, symptom-oriented organization of the clinical entities is also provided for efficient inquiries.

Authors/Disclosures
Narges Moghimi, MD (University of New Mexico) PRESENTER	Dr. Moghimi has nothing to disclose.
Monica Margoni	Monica Margoni has received research support from MAGNIMS. Monica Margoni has received research support from Merck-Serono. Monica Margoni has received research support from Sanofi-Genzyme.
	No disclosure on file
Bahman Jabbari, MD, FAAN	Dr. Jabbari has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Abbvie. Dr. Jabbari has received publishing royalties from a publication relating to health care.
Anna M. Szekely, MD (Yale University School of Medicine, Department of Neurology)	No disclosure on file

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