Classification and genetics of dystonia

@article{Aguiar2002ClassificationAG,
  title={Classification and genetics of dystonia},
  author={Patr{\'i}cia de Carvalho Aguiar and Laurie J. Ozelius},
  journal={The Lancet Neurology},
  year={2002},
  volume={1},
  pages={316-325}
}
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137 Citations
Highly Influential Citations
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Background Citations
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Results Citations
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137 Citations

Dystonia: Classification, Genetics and Therapeutics
DYSTONIA AND RELATED DISEASES
Dystonia is a disorder marked by the presence of involuntary, sustained muscle contractions causing abnormal postures. Pain may accompany the motor symptoms of dystonia. Dystonia is categorized…
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A correct recognition of the physical signs that constitute the hallmark of most dystonia syndromes provides the grounds to perform a structured diagnostic sequence and share a consistent methodology.
Complicated recessive dystonia parkinsonism syndromes
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The autosomal recessive forms of dystonia parkinsonism are reviewed, summarizing clinical presentations, results of investigations, and response to treatment of gene‐proven cases.
Neuroimaging Applications in Dystonia.
  • K. Simonyan
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    International review of neurobiology
  • 2018
Predominant dystonia with marked cerebellar atrophy
TLDR
An unusual familial phenotype associating dystonia and cerebellar atrophy in 12 male patients is characterized and four families with two affected sibs support the hypothesis of an autosomal recessive disorder.
Advances in the genetics of primary torsion dystonia
TLDR
Functional studies on TOR1A and THAP1 protein products have significantly improved mutation detection, genotype-phenotype correlates, and the understanding of the cellular mechanisms underlying the development of dystonia.
Molecular pathways in dystonia
An African-American family with dystonia.
Characteristics of dystonia in the 18p deletion syndrome, including a new case
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References

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A genetic study of idiopathic focal dystonia was undertaken by examining 153 first‐degree relatives of 40 index patients with torticollis, other focal cranial dystonias, and writer's cramp, suggesting the presence of an autosomal dominant gene or genes with reduced penetrance as a common cause.
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TLDR
Obsessive–compulsive disorder (OCD) may be associated with the DYT11 M-D gene; however, a larger sample is necessary to confirm this finding.
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TLDR
The inheritance of focal dystonias was investigated in 43 families containing 43 index cases with torticollis, blepharospasm and writer's cramp, and segregation analysis suggested the presence of an autosomal dominant gene or genes with reduced penetrante underlying focal dySTONia.
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Psychiatric morbidity appeared common in affected members of this family and may be part of the RDP phenotype, the third reported family with chromosome 19q13 rapid-onset dystonia-parkinsonism.
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TLDR
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TLDR
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TLDR
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The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
TLDR
The DYT1 gene on human chromosome 9q34 is identified as being responsible for early-onset torsion dystonia, a movement disorder, characterized by twisting muscle contractures, that begins in childhood.
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