Clinical and genetic characterization of a large Dutch family with primary focal dystonia

We describe a large family with a primary focal dystonia from a small Dutch village on a former island. Twenty‐four individuals spanning three generations were examined by two movement‐disorder neurologists. Two other movement‐disorder neurologists evaluated the videos independently. Subjects were c...

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Bibliographic Details
Published in:	Movement disorders Vol. 23; no. 14; pp. 1998 - 2003
Main Authors:	Contarino, Maria Fiorella, Berger-Plantinga, Elles, Foncke, Elisabeth M.J., Ritz, Katja, Mellema, Jonke, Baas, Frank, Speelman, Johannes D., Tijssen, Marina A.J.
Format:	Journal Article
Language:	English
Published:	Hoboken Wiley Subscription Services, Inc., A Wiley Company 30-10-2008 Wiley
Subjects:	Adult Aged Biological and medical sciences Child Diseases of striated muscles. Neuromuscular diseases DNA Mutational Analysis Dystonic Disorders - diagnosis Dystonic Disorders - genetics Dystonic Disorders - physiopathology family Family Health Female focal dystonia genetic geographical isolate Humans Male Medical sciences Middle Aged Molecular Chaperones - genetics Netherlands - epidemiology Neurology Polymorphism, Single Nucleotide Sarcoglycans - genetics Severity of Illness Index Netherlands genetic Nervous system diseases focal dystonia geographical isolate Involuntary movement Cerebral disorder Striated muscle disease Central nervous system disease Dystonia Neurological disorder family Dutch Extrapyramidal syndrome
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Summary:	We describe a large family with a primary focal dystonia from a small Dutch village on a former island. Twenty‐four individuals spanning three generations were examined by two movement‐disorder neurologists. Two other movement‐disorder neurologists evaluated the videos independently. Subjects were classified as “affected,” “possibly affected,” or “not affected.” A diagnosis was defined if all the neurologists agreed on the definition. Eight definitely affected and four possibly affected subjects were detected. Clinical presentation consisted of mild cranio‐cervical‐brachial dystonia. Mean age at onset was 45.5 years (range, 39–56). Mean BFMDRS motor score was 4.4 (range, 1–8). Mean TWSTRS score (part I) was 11.3 (range, 8–23). Mutations in DYT1 gene and in the ε‐sarcoglycan (SGCE) genes were not detected. We could not find linkage to the dominant DYT6, DYT7, DYT13, or the recessive DYT16 loci. The identification and accurate clinical evaluation of large dystonia families not linked to known genes is crucial for further advancement in molecular genetic characterization of focal dystonia. © 2008 Movement Disorder Society
Bibliography:	NWO VIDI - No. project 016.056.333 istex:DD2F0A1C1C6B16BF87F253968701AE79C4603EC4 ArticleID:MDS22206 ark:/67375/WNG-VVZ7K6SJ-4 Potential conflict of interest: None reported. ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-1 content type line 23 ObjectType-Article-1 ObjectType-Feature-2
ISSN:	0885-3185 1531-8257
DOI:	10.1002/mds.22206