title: Clinical and genetic characterization of a large Dutch family with primary focal dystonia.
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 epsilon-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.
authors.affiliation: Department of Neurology and Clinical Neurophysiology, Academic Medical Centre, Amsterdam, The Netherlands.
authors.forename: Maria Fiorella
authors.initials: MF
authors.lastname: Contarino
authors.forename: Elles
authors.initials: E
authors.lastname: Berger-Plantinga
authors.forename: Elisabeth M J
authors.initials: EM
authors.lastname: Foncke
authors.forename: Katja
authors.initials: K
authors.lastname: Ritz
authors.forename: Jonke
authors.initials: J
authors.lastname: Mellema
authors.forename: Frank
authors.initials: F
authors.lastname: Baas
authors.forename: Johannes D
authors.initials: JD
authors.lastname: Speelman
authors.forename: Marina A J
authors.initials: MA
authors.lastname: Tijssen
mesh_terms: D000328:Adult; D000368:Aged; D002648:Child; D004252:DNA Mutational Analysis; D020821:Dystonic Disorders / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D018832:Molecular Chaperones / Q000235:genetics; D009426:Netherlands / Q000453:epidemiology; D020641:Polymorphism, Single Nucleotide; D049031:Sarcoglycans / Q000235:genetics; D012720:Severity of Illness Index
chemical_list: D018832:Molecular Chaperones; C526572:SGCE protein, human; D049031:Sarcoglycans