DYT1 mutation in French families with idiopathic torsion dystonia
نویسندگان
چکیده
منابع مشابه
DYT1 mutation in French families with idiopathic torsion dystonia.
A GAG deletion at position 946 in DYT1, one of the genes responsible for autosomal dominant idiopathic torsion dystonia (ITD), has recently been identified. We tested 24 families and six isolated cases with ITD and found 14 individuals from six French families who carried this mutation, indicating that 20% of the affected families carried the DYT1 mutation. Age at onset was always before 20 yea...
متن کاملNon-DYT1 early-onset primary torsion dystonia: comparison with DYT1 phenotype and review of the literature.
To investigate the clinical features of early-onset primary torsion dystonia (EO-PTD), 57 consecutive genetically characterized patients with onset before 21 years were studied. Sex, ethnic origin, family history of dystonia, age at onset, disease duration, site of dystonia onset and distribution at latest examination, dystonia progression, time to generalization, and motor disability were note...
متن کاملFrequency of the DYT1 mutation in primary torsion dystonia without family history.
BACKGROUND Idiopathic torsion dystonia is a clinically and genetically heterogeneous movement disorder. A GAG deletion at position 946 of the DYT1 gene was the first mutation found, in early-onset dystonia, with an autosomal dominant transmission and reduced penetrance. OBJECTIVE To evaluate the frequency of the DYT1 mutation in patients with idiopathic torsion dystonia but without a family h...
متن کاملdyt1 mutations in primary torsion dystonia in iranian population
early-onset, generalized primary torsion dystonia (ptd) is an autosomal dominant disorder, characterized by involuntary movements and abnormal postures. the majority of cases are caused by a 3-bp deletion (gag deletion at position 946) in the dyt1 gene on chromosome 9q34 that allows for specific genetic testing. forty eight patients with early onset primary torsion dystonia were screened for th...
متن کاملImpaired sequence learning in carriers of the DYT1 dystonia mutation.
Previous positron emission tomography (PET) studies have shown that nonmanifesting carriers of the DYT1 dystonia mutation express an abnormal pattern of resting glucose metabolism. To determine whether motor behavior is impaired in these subjects, we compared movement and sequence learning in 12 clinically unaffected DYT1 carriers with 12 age-matched controls. Regional differences in brain func...
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ژورنال
عنوان ژورنال: Brain
سال: 1999
ISSN: 1460-2156,0006-8950
DOI: 10.1093/brain/122.1.41