Dyt1
Mostrando 1-11 de 11 artigos, teses e dissertações.
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1. Avaliação genética para TOR1-A (DYT1) em pacientes brasileiros com distonia
Tem sido mapeada uma série de genes em pacientes com distonia. O gene TOR1-A (DYT1) foi associado a casos de distonia primária. Objetivo Associar os achados clínicos dos pacientes com distonia com mutações em TOR1-A. Método Foram selecionados 88 pacientes com distonia na região cervical (focal, segmentar, multifocal e generalizada) no Setor de Dist
Arq. Neuro-Psiquiatr.. Publicado em: 2014-10
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2. Distonia cervical: considerações sobre casos esporádicos e familiares em 88 pacientes
A distonia cervical (CD) afeta a musculatura do pescoço de modo focal ou em combinação com outras partes do corpo. O objetivo deste estudo foi identificar diferenças clínicas entre pacientes com distonia com história familiar e pacientes sem história familiar (esporádicos). Foram selecionados 88 pacientes com DC no Setor de Distúrbios do Movimento e
Arq. Neuro-Psiquiatr.. Publicado em: 2014-02
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3. Caracterização fenotípica e genotípica de parkinsonismo e distonia familiares no ambulatório de distúrbios de movimento do Hospital das Clínicas da Universidade Federal de Minas Gerais
O objetivo deste estudo foi fazer uma avaliação fenotípica e genotípica de pacientes com parkinsonismo e distonia de início precoce e parkinsonismo e distonia familiares. Foram atendidos no ambulatório de Movimentos Anormais do Hospital das Clínicas da UFMG 575 pacientes entre junho de 2005 e junho de 2006, dos quais 39% preenchiam critérios para par
Publicado em: 2008
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4. Novo padrão de mutação missense no gene GCH1 na distonia dopa-responsiva
Distonia dopa-responsiva (DRD), classificada como DYT5, é um erro inato do metabolismo que pode ser causado por dois diferentes tipos de defeito bioquímico: deficiência de GTP ciclo-hidrolase 1 (GCH1) (autossômica dominante) ou de tirosina hidroxilase (autossômica recessiva). Descrevemos o caso de menina de 10 anos com distonia generalizada progressiva
Arquivos de Neuro-Psiquiatria. Publicado em: 2007-12
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5. Adult onset idiopathic torsion dystonia is excluded from the DYT 1 region (9q34) in a Swedish family.
A gene (DYT1) for early onset idiopathic torsion dystonia was mapped to chromosome 9q34 in non-Jewish and Jewish families. The DYT1 gene region has been excluded in other families with adult onset and cervical or cranial onset idiopathic torsion dystonia from the United States, Great Britain, and France. The role of DYT1 in a Swedish family with adult onset
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6. Non-DYT1 dystonia in a large Italian family.
A large non-Jewish Italian family affected by idiopathic torsion dystonia with autosomal dominant transmission and almost complete penetrance is reported. The prevalent phenotype was characterised by early onset with cranial-cervical involvement and progression to a segmental distribution; progression to generalisation was also found. Among 45 people examine
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7. Impairment of bidirectional synaptic plasticity in the striatum of a mouse model of DYT1 dystonia: role of endogenous acetylcholine
DYT1 dystonia is a severe form of inherited dystonia, characterized by involuntary twisting movements and abnormal postures. It is linked to a deletion in the dyt1 gene, resulting in a mutated form of the protein torsinA. The penetrance for dystonia is incomplete, but both clinically affected and non-manifesting carriers of the DYT1 mutation exhibit impaired
Oxford University Press.
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8. Mislocalization to the nuclear envelope: An effect of the dystonia-causing torsinA mutation
Primary dystonia is a disease characterized by involuntary twisting movements caused by CNS dysfunction without underlying histopathology. DYT1 dystonia is a form of primary dystonia caused by an in-frame GAG deletion (ΔE302/3) in the TOR1A gene that encodes the endoplasmic reticulum luminal protein torsinA. We show that torsinA is also present in the nucle
National Academy of Sciences.
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9. Delineation of the dystonia-parkinsonism syndrome locus in Xq13.
The X chromosome-linked dystonia-parkinsonism syndrome (XDP) is a severe movement disorder, characterized by both dystonia and parkinsonism. XDP is a genetically homogeneous disorder. Known ancestry of all patients has been traced back to Panay, Philippines, where the disease probably originated from a single mutation (founder effect). The gene locus, DYT3,
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10. Printor, a Novel TorsinA-interacting Protein Implicated in Dystonia Pathogenesis*
Early onset generalized dystonia (DYT1) is an autosomal dominant neurological disorder caused by deletion of a single glutamate residue (torsinA ΔE) in the C-terminal region of the AAA+ (ATPases associated with a variety of cellular activities) protein torsinA. The pathogenic mechanism by which torsinA ΔE mutation leads to dystonia remains unknown. Here we
American Society for Biochemistry and Molecular Biology.
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11. 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 parkinsonism. We report delineation of the disease gene within a 300-kb interval of Xq13.1 by allelic association. Sequencing of this region in a patient revealed five disease-specific single-nucleotide changes (here referred to
National Academy of Sciences.