Rapid-onset dystonia-parkinsonism

Pittock, Sean J.; Joyce, Caroline; O’Keane, Veronica; Hügle, Boris; Hardiman, Orla; Brett, Francesca; Green, Andrew J.; Barton, D. E.; King, Mary D.; Webb, David

doi:10.1212/wnl.55.7.991

Cited by 115 publications

(74 citation statements)

References 26 publications

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“…It has an autosomal dominant inheritance pattern and reduced penetrance. The gene responsible for the disease, DYT12/ATP1A3, has 23 exons and encodes the Na + /K + -ATPase α3 (ATP1A3), a catalytic subunit of the sodium pump 40,41 . Since the first mutations descripted by de Carvalho Aguiar et al 41 , several mutations across the gene have been associated with RPD.…”

Section: Dyt12 Dystoniamentioning

confidence: 99%

“…Since the first mutations descripted by de Carvalho Aguiar et al 41 , several mutations across the gene have been associated with RPD. However, the exact correlation between ATP1A3 and the pathological mechanism of RDP remains to be elucidated 40,41 .…”

Section: Dyt12 Dystoniamentioning

confidence: 99%

“…In rare cases isolated parkinsonism can precede the RDP 42 . Some psychiatric disorders, such as depression, personality disorders, anxiety, panic disorder and social phobia, can be found in families with RDP 40,42 .…”

Section: Dyt12 Dystoniamentioning

confidence: 99%

See 2 more Smart Citations

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: Dyt12 Dystoniamentioning

confidence: 99%

Section: Dyt12 Dystoniamentioning

confidence: 99%

See 1 more Smart Citation

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

Camargo

Camargos

Cardoso

et al. 2015

Arq. Neuro-Psiquiatr.

View full text Add to dashboard Cite

show abstract

“…Many patients report specific triggers consisting of either physical (fever, running, childbirth, excessive alcohol ingestion) or psychological stress. Limited pathological studies have not identified neurodegeneration suggesting that RDP results from neuronal dysfunction [29]. The symptoms appear to develop with a rostrocaudal gradient, with bulbar symptoms more severe than limb symptoms.…”

Section: Rapid-onset Dystonia Parkinsonism (Rdp; Dyt12)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 triggers are variable and include head trauma, childbirth, and prolonged exposure to heat or exercise [85]. However, even severe emotional stress can bring on symptoms [86]. Importantly, once DYT12 patients become symptomatic, their disability persists and patients largely do not recover function with time [85].…”

Section: Rapid Onset Dystonia Parkinsonism (Dyt12)mentioning

confidence: 99%

Alternative Approaches to Modeling Hereditary Dystonias

Fremont

Khodakhah

2012

Neurotherapeutics

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Rapid-onset dystonia-parkinsonism

Abstract: This is the third reported family with chromosome 19q13 rapid-onset dystonia-parkinsonism. Psychiatric morbidity appeared common in affected members of this family and may be part of the RDP phenotype.

Cited by 115 publications

References 26 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

Alternative Approaches to Modeling Hereditary Dystonias

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