DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA

Camargos, Sarah Teixeira; Scholz, Sonja W.; Simón‐Sánchez, Javier; Paisán-Ruı́z, Coro; Lewis, Patrick A.; Hernandez, Dena G.; Ding, Jinhui; Gibbs, J. Raphael; Cookson, Mark; Brás, José; Guerreiro, Rita; Oliveira, Catarina R.; Lees, Andrew J.; Hardy, John; Cardoso, Francisco; Singleton, Andrew B.

doi:10.1016/s1474-4422(08)70022-x

Cited by 204 publications

(164 citation statements)

References 17 publications

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“…The patients initially described by Camargos et al 44 , who had the c.665C→T mutation, presented with an early-onset generalized disease. Onset was between the ages of two and eighteen years, and the condition manifested as a focal, predominantly limb dystonia that causes gait and writing problems and then becomes generalized 44 .…”

Section: Dyt16 Dystoniamentioning

confidence: 98%

“…Camargos et al 44 identified a dystonia with an autosomal recessive inheritance pattern in Brazilian families caused by a mutation in the PRKRA gene that encodes the interferoninducible double-stranded RNA-dependent protein kinase activator in the 2q31.3 locus, which was assigned the name DYT16 dystonia.…”

Section: Dyt16 Dystoniamentioning

confidence: 99%

“…Onset was between the ages of two and eighteen years, and the condition manifested as a focal, predominantly limb dystonia that causes gait and writing problems and then becomes generalized 44 . In addition to the clinical features of dystonia, the patients described by Camargos et al 44 presented with a dystonic sardonic smile, dysarthria, dysphagia and psychiatric changes. Most of the patients had pyramidal signs (hyperreflexia and ankle clonus).…”

Section: Dyt16 Dystoniamentioning

confidence: 99%

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The genetics of the dystonias – a review based on the new classification of the dystonias

Camargo

Camargos

Cardoso

et al. 2015

Arq. Neuro-Psiquiatr.

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The definition and classification of the dystonias was recently revisited. In the new 2013 classification, the dystonias are subdivided in terms of their etiology according to whether they are the result of pathological changes or structural damage, have acquired causes or are inherited. As hereditary dystonias are clinically and genetically heterogeneous, we sought to classify them according to the new recently defined criteria. We observed that although the new classification is still the subject of much debate and controversy, it is easy to use in a logical and objective manner with the inherited dystonias. With the discovery of new genes, however, it remains to be seen whether the new classification will continue to be effective.

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Section: Dyt16 Dystoniamentioning

confidence: 98%

Section: Dyt16 Dystoniamentioning

confidence: 99%

Section: Dyt16 Dystoniamentioning

confidence: 99%

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The genetics of the dystonias – a review based on the new classification of the dystonias

Camargo

Camargos

Cardoso

et al. 2015

Arq. Neuro-Psiquiatr.

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“…Camargos et al described DYT16 dystonia as a novel, autosomal recessive form of early-onset generalised dystonia, due to putative mutations in the PRKRA gene [35]. The homozygous (P222L) mutation was found in seven affected members from three Brazilian families.…”

Section: Dystonia- Parkinsonism (Dyt16)mentioning

confidence: 99%

“…Laryngeal dystonia, sometimes leading to anarthria, was a prominent clinical feature, as was the presence of a “sardonic smile”. Parkinsonism appeared later than dystonia in all cases [35]. …”

Section: Dystonia- Parkinsonism (Dyt16)mentioning

confidence: 99%

Recent Advances in the Molecular Pathogenesis of Dystonia-Plus Syndromes and Heredodegenerative Dystonias

Casper

Kalliolia²,

Warner³

2013

Current Neuropharmacology

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The majority of studies investigating the molecular pathogenesis and cell biology underlying dystonia have been performed in individuals with primary dystonia. This includes monogenic forms such as DYT1and DYT6 dystonia, and primary focal dystonia which is likely to be multifactorial in origin. In recent years there has been renewed interest in non-primary forms of dystonia including the dystonia-plus syndromes and heredodegenerative disorders. These are caused by a variety of genetic mutations and their study has contributed to our understanding of the neuronal dysfunction that leads to dystonia These findings have reinforced themes identified from study of primary dystonia including abnormal dopaminergic signalling, cellular trafficking and mitochondrial function. In this review we highlight recent advances in the understanding of the dystonia-plus syndromes and heredodegenerative dystonias.

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The HapMap

Hardy¹,

Singleton²

2008

Arch Neurol

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DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA

Cited by 204 publications

References 17 publications

The genetics of the dystonias – a review based on the new classification of the dystonias

The genetics of the dystonias – a review based on the new classification of the dystonias

Recent Advances in the Molecular Pathogenesis of Dystonia-Plus Syndromes and Heredodegenerative Dystonias

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