Defective temporal processing of sensory stimuli in DYT1 mutation carriers: a new endophenotype of dystonia?
نویسندگان
چکیده
منابع مشابه
Defective temporal processing of sensory stimuli in DYT1 mutation carriers: a new endophenotype of dystonia?
DYT1 primary torsion dystonia is an autosomal dominant movement disorder due to a 3-bp GAG deletion in the TOR1A gene, which becomes manifest in only 30-40% of mutation carriers. Investigating the factors regulating this reduced penetrance might add new insight into the mechanisms underlying the disease. The pathophysiology of dystonia has been related to basal ganglia dysfunctions that lead to...
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...
متن کاملIncreased risk for recurrent major depression in DYT1 dystonia mutation carriers.
BACKGROUND Prior studies suggest that dystonia is comorbid with affective disorders. This comorbidity could be a reaction to a chronic debilitating disorder or expression of a predisposing gene. The authors took advantage of the identification of a gene for dystonia, DYT1, to test these alternative explanations. METHODS The authors administered a standardized psychiatric interview to members ...
متن کاملDYT1 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 کاملImpaired body movement representation in DYT1 mutation carriers.
OBJECTIVE The only known genetic cause of early-onset primary torsion dystonia is the GAG deletion in the DYT1 gene. Due to the reduced penetrance, many mutation carriers remain clinically asymptomatic, despite the presence of subclinical abnormalities, mainly in the motor control circuitry. Our aim was to investigate whether the DYT1 mutation impairs the inner simulation of movements, a fundam...
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ژورنال
عنوان ژورنال: Brain
سال: 2006
ISSN: 0006-8950,1460-2156
DOI: 10.1093/brain/awl283