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Acta Neurol Scand. 2003 Mar;107(3):228-32.

Focal and segmental primary dystonia in north-western Germany--a clinico-genetic study.

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1
Department of Neurology, Medical University of Lübeck, Lübeck, Germany.

Abstract

OBJECTIVES:

To determine the frequency of familial focal and segmental dystonias in a large patient cohort with primary dystonia from north-western Germany.

MATERIALS AND METHODS:

In this study, 130 patients with focal or segmental dystonia were examined and a family history was obtained. Whenever possible, affected relatives were examined (a total of 789 first-degree relatives). Data on disease duration, age at disease onset and age of the patients were investigated by Student's t-test and a segregation analysis was performed by Weinberg's proband method.

RESULTS:

Age at onset of disease was significantly later in the blepharospasm group. Only in the writer's cramp group were women outnumbered by men. A positive family history was found in 15 of the 130 index patients (11.5%). None of 102 index patients tested carried the GAG deletion in the DYT1 gene.

CONCLUSIONS:

In accordance with previous series our study provides evidence that primary focal dystonia may have a genetic etiology, most probably caused by an autosomal dominant trait with reduced penetrance.

PMID:
12614318
[Indexed for MEDLINE]
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