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

✍ Scribed by Maria Fiorella Contarino; Elles Berger-Plantinga; Elisabeth M.J. Foncke; Katja Ritz; Jonke Mellema; Frank Baas; Johannes D. Speelman; Marina A.J. Tijssen

Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
117 KB
Volume
23
Category
Article
ISSN
0885-3185

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✦ Synopsis

Abstract

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

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