Screening for dystonia genes DYT1, 11 and 16 in patients with writer's cramp

Ritz, Katja; Groen, Justus L.; Kruisdijk, José J. M.; Baas, Frank; Koelman, Johannes H. T. M.; Tijssen, Marina A. J.

doi:10.1002/mds.22632

Cited by 14 publications

(8 citation statements)

References 7 publications

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“…All WC patients (n=68) were previously screened for mutations in TOR1A , THAP1 and SGCE 16. One patient, a 32-year-old woman suffering from WC of her dominant right hand since age 12 years, showed the GAGdel in the TOR1A gene.…”

Section: Resultsmentioning

confidence: 99%

“…All patients with segmental dystonia and those with an AaO before 26 years were tested for the GAG deletion in the TOR1A gene and were screened for the entire coding region of THAP1 10 15. Patients with jerky movements accompanying the dystonia were tested for mutations in the DYT11 ( SGCE ) gene 16. For genotyping, standard PCR amplification and sequence analyses were performed (ABI Big Dye v3.1 chemistry, ABI 3730 capillary system; Applied Biosystems, Foster City, USA).…”

Section: Methodsmentioning

confidence: 99%

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Phenotypes and genetic architecture of focal primary torsion dystonia

Groen

Kallen

Warrenburg

et al. 2012

J Neurol Neurosurg Psychiatry

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Of all of the FPTD patients, 25% had a familial predisposition; in 2.4% a Mendelian inheritance pattern was noted. With a stronger family history, a significantly lower AaO was seen in all focal dystonias. In both the sporadic and familial focal dystonia groups, AaO had an effect on the distribution of dystonia, with a caudal to cranial tendency. In all focal dystonia forms, women were more frequently affected, except for writer's cramp. Careful clinical characterisation will allow the formation of phenotype subgroups. We suggest that genetic research into FPTDs will benefit from this approach and discuss genetic research strategies to decipher the complex background of focal dystonias.

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Section: Resultsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Phenotypes and genetic architecture of focal primary torsion dystonia

Groen

Kallen

Warrenburg

et al. 2012

J Neurol Neurosurg Psychiatry

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“…Task-specific dystonia (or isolated dystonia of the limb which is non-task-specific) may be the presenting feature of the hereditary dystonias (such as DYT116) or isolated generalised/segmental dystonias, however, with time, the more extensive distribution of the disorder is defined. In such cases, early imaging excludes the infrequent possibility that the dystonia is caused by a focal lesion.…”

Section: Differential Diagnosismentioning

confidence: 99%

Task-specific dystonia: pathophysiology and management

Sadnicka

Kassavetis

Pareés

et al. 2016

J Neurol Neurosurg Psychiatry

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Task-specific dystonia is a form of isolated focal dystonia with the peculiarity of being displayed only during performance of a specific skilled motor task. This distinctive feature makes task-specific dystonia a particularly mysterious and fascinating neurological condition. In this review, we cover phenomenology and its increasingly broad-spectrum risk factors for the disease, critically review pathophysiological theories and evaluate current therapeutic options. We conclude by highlighting the unique features of task-specific dystonia within the wider concept of dystonia. We emphasise the central contribution of environmental risk factors, and propose a model by which these triggers may impact on the motor control of skilled movement. By viewing task-specific dystonia through this new lens which considers the disorder a modifiable disorder of motor control, we are optimistic that research will yield novel therapeutic avenues for this highly motivated group of patients.

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“…Some patients displayed concomitant parkinsonian features. Apart from an isolated dystonia case carrying a heterozygous PRKRA mutation, so far, subsequent screening efforts failed to identify any further DYT16 patients …”

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confidence: 99%

DYT16 revisited: Exome sequencing identifiesPRKRAmutations in a European dystonia family

et al. 2014

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Recessive DYT16 dystonia associated with mutations in PRKRA has until now been reported only in seven Brazilian patients. The aim of this study was to elucidate the genetic cause underlying disease in a Polish family with autosomal-recessive, early-onset generalized dystonia and slight parkinsonism, and to explore further the role of PRKRA in a dystonia series of European ancestry. We employed whole-exome sequencing in two affected siblings of the Polish family and filtered for rare homozygous and compound heterozygous variants shared by both exomes. Validation of the identified variants as well as homozygosity screening and copy number variation analysis was carried out in the two affected individuals and their healthy siblings. PRKRA was analyzed in 339 German patients with various forms of dystonia and 376 population-based controls by direct sequencing or high-resolution melting. The previously described homozygous p.Pro222Leu mutation in PRKRA was found to segregate with the disease in the studied family, contained in a 1.2 Mb homozygous region identical by state with all Brazilian patients in chromosome 2q31.2. The clinical presentation with young-onset, progressive generalized dystonia and mild parkinsonism resembled the phenotype of the original DYT16 cases. PRKRA mutational screening in additional dystonia samples revealed three novel heterozygous changes (p.Thr34Ser, p.Asn102Ser, c.-14A>G), each in a single subject with focal/segmental dystonia. Our study provides the first independent replication of the DYT16 locus at 2q31.2 and strongly confirms the causal contribution of the PRKRA gene to DYT16. Our data suggest worldwide involvement of PRKRA in dystonia.

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Screening for dystonia genes DYT1, 11 and 16 in patients with writer's cramp

Cited by 14 publications

References 7 publications

Phenotypes and genetic architecture of focal primary torsion dystonia

Phenotypes and genetic architecture of focal primary torsion dystonia

Task-specific dystonia: pathophysiology and management

DYT16 revisited: Exome sequencing identifiesPRKRAmutations in a European dystonia family

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