Classification and genetics of dystonia

Aguiar, Patrícia Maria de Carvalho; Ozelius, Laurie J.

doi:10.1016/s1474-4422(02)00137-0

Cited by 143 publications

(90 citation statements)

References 121 publications

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“…DYT16 cases that present with pure dystonia are an important differential diagnosis of DYT1 and DYT6 dystonia [38]. There are many similarities between DYT16 and DYT12 , such as prominent bulbar signs and rostro-caudal gradient; however, DYT12 has an abrupt onset and a clear autosomal dominant mode of inheritance [39].…”

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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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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“…Dystonias, the most common of these, are characterized by the occurrence of sustained muscle contractions and cocontractions leading to repetitive patterned movements (hyperkinetic dystonias) or fixed abnormal postures (hypokinetic dystonias). Many forms of dystonia now are recognized as genetic disorders, classified as DYT-1 to DYT-16 (1)(2)(3)(4). Dopa-responsive dystonia (DRD), a hypokinetic dystonia, was the first dystonic syndrome for which a causative gene was identified (GCH1) (5).…”

Section: Dopa-responsive Dystonia (Drd) Is a Hereditary Dystonia Charmentioning

confidence: 99%

Differential involvement of striosome and matrix dopamine systems in a transgenic model of dopa-responsive dystonia

Sato

Sumi‐Ichinose

Kaji

et al. 2008

Proc. Natl. Acad. Sci. U.S.A.

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Dopa-responsive dystonia (DRD) is a hereditary dystonia character-ized by a childhood onset of fixed dystonic posture with a dramatic and sustained response to relatively low doses of levodopa. DRD is thought to result from striatal dopamine deficiency due to a reduced synthesis and activity of tyrosine hydroxylase (TH), the synthetic enzyme for dopamine. The mechanisms underlying the genesis of dystonia in DRD present a challenge to models of basal ganglia movement control, given that striatal dopamine deficiency is the hallmark of Parkinson's disease. We report here behavioral and anatomical observations on a transgenic mouse model for DRD in which the gene for 6-pyruvoyl-tetrahydropterin synthase is targeted to render selective dysfunction of TH synthesis in the striatum. Mutant mice exhibited motor deficits phenotypically resembling symptoms of human DRD and manifested a major depletion of TH labeling in the striatum, with a marked posterior-to-anterior gradient resulting in near total loss caudally. Strikingly, within the regions of remaining TH staining in the striatum, there was a greater loss of TH labeling in striosomes than in the surrounding matrix. The predominant loss of TH expression in striosomes occurred during the early postnatal period, when motor symptoms first appeared. We suggest that the differential striosome-matrix pattern of dopamine loss could be a key to identifying the mechanisms underlying the genesis of dystonia in DRD.basal ganglia ͉ movement disorders ͉ Parkinson's disease ͉ striatum

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“…Clinical studies of dystonia have recognized a relationship between the age at symptom onset, affected body region at onset, and disease progression 1,2 . The natural history of cervical dystonia (CD) is not clear.…”

mentioning

confidence: 99%

Retrocollis, anterocollis or head tremor may predict the spreading of dystonic movements in primary cervical dystonia

Godeiro-Júnior

Felı́cio

Aguiar

et al. 2009

Arq. Neuro-Psiquiatr.

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-Background and Purpose: Few studies have attempted to develop clinical predictors for cervical dystonia (CD) aiming at progression of the dystonic movement. Method: We retrospectively evaluated 73 patients with primary CD who underwent treatment with Botulinum toxin type-A (BTX-A). The patients were assembled in two groups according to the spread of dystonia during follow-up: spreading and non-spreading CD. We performed a binary logistic regression model using spreading of cervical dystonia as dependent variable aiming to find covariates which increase the risk of spreading. Results: Our logistic regression model found the following covariates and their respective risk ratios: time of disease >18.5 months=2.4, retrocollis=1.9, anterocollis=1.8, head tremor=1.6. Conclusion: Time of disease >18.5 months, retrocollis, anterocollis and head tremor may predict spreading of dystonic movement to other regions of the body in CD patients.Key WOrDs: cervical dystonia, progression, retrocollis, anterocollis, head tremor. Retrocolis, anterocolis ou tremor cefálico podem predizer a progressão dos movimentos distônicos em pacientes com distonia cervical primáriaResumo -Introdução: Poucos estudos avaliam preditores clínicos de progressão dos movimentos distônicos, para além da região cervical, em pacientes com distonia cervical (DC) primária. Método: Avaliamos, retrospectivamente, 73 pacientes com DC primária, que tinham sido submetidos ao tratamento com a toxina botulínica tipo A (BTX-A). estes pacientes foram divididos em dois grupos de acordo com a progressão ou não da DC para outras áreas do corpo. Aplicamos um modelo de regressão logística binária usando a progressão da distonia como variável dependente com o objetivo de identificar co-variáveis que aumentassem o risco de progressão. Resultados: O modelo de regressão logístico identificou as seguintes co-variáveis como preditoras de progressão e seus respectivos índices de risco: tempo de doença >18,5 meses=2,4, retrocolis=1,9, anterocolis=1,8, tremor cefálico=1,6. Conclusão: Tempo de doença >18,5 meses, retrocolis, anterocolis, e tremor cefálico podem predizer a progressão do movimento distônico para outras regiões do corpo em pacientes com DC primária.PAlAvrAs-ChAve: distonia cervical, progressão, retrocolis, anterocolis, tremor cefálico.

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Classification and genetics of dystonia

Cited by 143 publications

References 121 publications

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

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

Differential involvement of striosome and matrix dopamine systems in a transgenic model of dopa-responsive dystonia

Retrocollis, anterocollis or head tremor may predict the spreading of dystonic movements in primary cervical dystonia

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