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Clinical and genetic characterization of a large Dutch family with primary focal dystonia
Author(s) -
Contarino Maria Fiorella,
BergerPlantinga Elles,
Foncke Elisabeth M.J.,
Ritz Katja,
Mellema Jonke,
Baas Frank,
Speelman Johannes D.,
Tijssen Marina A.J.
Publication year - 2008
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.22206
Subject(s) - dystonia , cervical dystonia , focal dystonia , movement disorders , neurological disorder , physical medicine and rehabilitation , psychology , medicine , pediatrics , central nervous system disease , psychiatry , neuroscience , disease
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