Dystonia 3, Torsion, X-Linked

Known as: Torsion Dystonia-Parkinsonism, Filipino Type, X-Linked Dystonia Parkinsonism, DYSTONIA-PARKINSONISM, X-LINKED 
An X-linked recessive inherited movement disorder caused by mutations in and near the TAF1 gene. It is found only in people of Filipino descent. It… (More)
National Institutes of Health

Related topics

Related topics

8 relations
Central Nervous SystemChoreaDystonia Musculorum DeformansMyoclonus
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Broader (2)

Dystonia DisordersGenetic Diseases, X-Linked

Papers overview

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Highly Cited
2011
Highly Cited
2011
The neural substrates of Rapid-Onset Dystonia-Parkinsonism
Although dystonias are a common group of movement disorders, the mechanisms by which brain dysfunction results in dystonia are… (More)
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Review
2011
Review
2011
The unique phenomenology of sex-linked dystonia parkinsonism (XDP, DYT3, "Lubag").
Sex-linked dystonia parkinsonism (XDP, DYT3, "Lubag") is an adult-onset, progressive, debilitating movement disorder first… (More)
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2010
2010
Catalytic Function of PLA2G6 Is Impaired by Mutations Associated with Infantile Neuroaxonal Dystrophy but Not Dystonia-Parkinsonism
BACKGROUND Mutations in the PLA2G6 gene have been identified in autosomal recessive neurodegenerative diseases classified as… (More)
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Highly Cited
2009
Highly Cited
2009
Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia.
Genetic variants of the SLC6A3 gene that encodes the human dopamine transporter (DAT) have been linked to a variety of… (More)
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Highly Cited
2007
Highly Cited
2007
The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene.
Rapid-onset dystonia-parkinsonism (RDP) (also known as DYT12) is characterized by the abrupt onset of dystonia and parkinsonism… (More)
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2005
2005
Functional anatomy of the basal ganglia in X-linked recessive dystonia-parkinsonism.
Dystonia is a neurological syndrome characterized by sustained muscle contractions that produce repetitive twisting movements or… (More)
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2003
2003
Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia parkinsonism.
X-linked dystonia parkinsonism (XDP) is an X-linked recessive adult onset movement disorder characterized by both dystonia and… (More)
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Review
2002
Review
2002
The natural history of sex-linked recessive dystonia parkinsonism of Panay, Philippines (XDP).
Sex-linked dystonia parkinsonism (XDP) was reported by Lee et al. in 1975 occurring endemically in Panay, Philippines. It is an… (More)
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2000
2000
Rapid-onset dystonia-parkinsonism: a clinical and genetic analysis of a new kindred.
BACKGROUND Rapid-onset dystonia-parkinsonism (RDP) is an autosomal dominant disorder linked to chromosome 19q13 that is… (More)
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1989
1989
Hemostatic markers in acute stroke.
To assess the time course of thrombosis and fibrinolysis after acute stroke, we measured concentrations of fibrinopeptide A (FpA… (More)
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