NDLI: Novel mutation in the TOR1A (DYT1) gene in atypical, early onset dystonia and polymorphisms in dystonia and early onset parkinsonism

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Novel mutation in the TOR1A (DYT1) gene in atypical, early onset dystonia and polymorphisms in dystonia and early onset parkinsonism

Content Provider	Semantic Scholar
Author	Leung, Joanne Klein, Christine Friedman, Jennifer Vieregge, P. Jacobs, Helfried Doheny, Dana Kamm, Christoph DeLeon, Deborah Pramstaller, Peter P. Penney, John B. Eisengart, Marvin Jankovic, Joseph Gasser, Thomas Bressman, Susan Corey, David P. Kramer, Patricia Brin, Mitchell F. Ozelius, Laurie Breakefield, Xandra O.
Copyright Year	2001
Abstract	Abstract. Dystonia is a movement disorder involving sustained muscle contractions and abnormal posturing with a strong hereditary predisposition and without a distinct neuropathology. In this study the TOR1A (DYT1) gene was screened for mutations in cases of early onset dystonia and early onset parkinsonism (EOP), which frequently presents with dystonic symptoms. In a screen of 40 patients, we identified three variations, none of which occurred in EOP patients. Two infrequent intronic single base pair (bp) changes of unknown consequences were found in a dystonia patient and the mother of an EOP patient. An 18-bp deletion (Phe323_Tyr328del) in the TOR1A gene was found in a patient with early onset dystonia and myoclonic features. This deletion would remove 6 amino acids close to the carboxy terminus, including a putative phosphorylation site of torsinA. This 18-bp deletion is the first additional mutation, beyond the GAG-deletion (Glu302/303del), to be found in the TOR1A gene, and is associated with a distinct type of early onset dystonia.
Starting Page	133
Ending Page	143
Page Count	11
File Format	PDF HTM / HTML
DOI	10.1007/s100480100111
Alternate Webpage(s)	http://corey.med.harvard.edu/PDFs/2001%20Leung%20Corey%20novel.pdf
Alternate Webpage(s)	https://page-one.springer.com/pdf/preview/10.1007/s100480100111
PubMed reference number	11523564
Alternate Webpage(s)	https://doi.org/10.1007/s100480100111
Journal	Medline
Volume Number	3
Journal	Neurogenetics
Language	English
Access Restriction	Open
Content Type	Text
Resource Type	Article

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