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1.
Mov. Disord ; 32(5): 708-718, 2017. tab, graf
Artigo em Inglês | CUMED | ID: cum-76726

RESUMO

The characterization of prodromal stages in neurodegenerative disorders is becoming increasingly important because of the need for early neuroprotective therapies. Research during the past 3 decades in spinocerebellar ataxia type 2 has revealed a large body of evidence suggesting that many disease features precede the manifest cerebellar syndrome, which delineates the prodromal stage of this disorder. This stage is defined by clinical, imaging, and functional criteria, which are supported by early molecular events demonstrated in animal models. Knowledge regarding prodromal spinocerebellar ataxia type 2 provides insight into the mechanisms underlying neurodegeneration from the early stages, which enables the design of promising disease-modifying clinical trials through the identification of the optimum moment to begin the therapies, the appropriate selection of individuals, and the identification of sensitive outcome measures. The management of patients in prodromal spinocerebellar ataxia type 2 may raise ethical dilemmas related to predictive diagnosis and early interventions, which impose new challenges to clinical and therapeutic research (AU)


Assuntos
Humanos , Diagnóstico Precoce , Potenciais Evocados Auditivos do Tronco Encefálico , Potenciais Somatossensoriais Evocados , Ataxias Espinocerebelares/diagnóstico , Ataxias Espinocerebelares/genética , Ataxias Espinocerebelares/fisiopatologia , Ataxias Espinocerebelares/terapia , Ataxina-2/genética , Intervenção Médica Precoce/ética , Intervenção Médica Precoce/métodos , Sintomas Prodrômicos
2.
Mov Disord ; 32(5): 708-718, 2017 05.
Artigo em Inglês | MEDLINE | ID: mdl-28256108

RESUMO

The characterization of prodromal stages in neurodegenerative disorders is becoming increasingly important because of the need for early neuroprotective therapies. Research during the past 3 decades in spinocerebellar ataxia type 2 has revealed a large body of evidence suggesting that many disease features precede the manifest cerebellar syndrome, which delineates the prodromal stage of this disorder. This stage is defined by clinical, imaging, and functional criteria, which are supported by early molecular events demonstrated in animal models. Knowledge regarding prodromal spinocerebellar ataxia type 2 provides insight into the mechanisms underlying neurodegeneration from the early stages, which enables the design of promising disease-modifying clinical trials through the identification of the optimum moment to begin the therapies, the appropriate selection of individuals, and the identification of sensitive outcome measures. The management of patients in prodromal spinocerebellar ataxia type 2 may raise ethical dilemmas related to predictive diagnosis and early interventions, which impose new challenges to clinical and therapeutic research. © 2017 International Parkinson and Movement Disorder Society.


Assuntos
Diagnóstico Precoce , Intervenção Médica Precoce/métodos , Sintomas Prodrômicos , Ataxias Espinocerebelares/diagnóstico , Ataxina-2/genética , Encéfalo/diagnóstico por imagem , Intervenção Médica Precoce/ética , Ética Médica , Potenciais Evocados Auditivos do Tronco Encefálico , Potenciais Somatossensoriais Evocados , Medições dos Movimentos Oculares , Testes Genéticos , Humanos , Cãibra Muscular/fisiopatologia , Condução Nervosa , Transtornos do Olfato/fisiopatologia , Polissonografia , Disautonomias Primárias/fisiopatologia , Reflexo Anormal , Ataxias Espinocerebelares/genética , Ataxias Espinocerebelares/fisiopatologia , Ataxias Espinocerebelares/terapia , Estimulação Magnética Transcraniana
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