Classification and genetics of dystonia

  title={Classification and genetics of dystonia},
  author={Patr{\'i}cia de Carvalho Aguiar and Laurie J. Ozelius},
  journal={The Lancet Neurology},
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
Is this dystonia?
  • A. AlbaneseS. Lalli
  • Medicine, Psychology
    Movement disorders : official journal of the Movement Disorder Society
  • 2009
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
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
  • Biology, Psychology
    International review of neurobiology
  • 2018
Predominant dystonia with marked cerebellar atrophy
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
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.
An African-American family with dystonia.
Characteristics of dystonia in the 18p deletion syndrome, including a new case


A genetic study of idiopathic focal dystonias
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.
Myoclonus dystonia
Obsessive–compulsive disorder (OCD) may be associated with the DYT11 M-D gene; however, a larger sample is necessary to confirm this finding.
A genetic study of idiopathic focal dystonias
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.
Rapid-onset dystonia-parkinsonism
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.
Mutations in the gene encoding ɛ-sarcoglycan cause myoclonus–dystonia syndrome
Using a positional cloning approach, five different heterozygous loss-of-function mutations in the gene for ɛ-sarcoglycan (SGCE) are identified, which is mapped to a refined critical region of about 3.2 Mb and shows a marked difference in penetrance depending on the parental origin of the disease allele.
Rapid‐onset dystonia‐parkinsonism
The disorder is called “rapid-onset dystonia-parkinsonism” (RDP) based on the unusually rapid evolution of signs and symptoms, and it is believed RDP is unique and should be classified separately from other forms of hereditary dystonian disorder.
DYT1 mutation in primary torsion dystonia in a Serbian population
Molecular analysis of relatives in 2 families revealed that the lack of family history was due to reduced penetrance and the GAG deletion in the DYT1 gene was responsible for most cases of autosomal dominant early-onset PTD.
The role of DYT1 in primary torsion dystonia in Europe.
Analysis of the DYT1 mutation in 150 PTD patients confirmed the importance of the GAG deletion in European cases of PTD, and indicated phenotypic and genotypic heterogeneity.
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
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.