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1.
J Neurosci Methods ; 230: 1-4, 2014 Jun 15.
Artigo em Inglês | MEDLINE | ID: mdl-24769376

RESUMO

BACKGROUND: Distinguishing the postural re-emergent tremor of Parkinson disease from essential tremor can be difficult clinically. Use of accelerometry to aid diagnosis is limited to laboratory settings. We sought to record and differentiate these tremors using a smart watch device in an outpatient clinic. NEW METHOD: 41 patients were enrolled. Recordings were made with a smart watch device on the predominantly affected hand (all patients), and simultaneously with an analog accelerometer (10 patients) with hands at rest and outstretched. Tremor peak frequency, peak power, and power of the first four harmonics was calculated and compared between the two devices. Mean power at the first four harmonics was calculated and used to classify tremor as parkinsonian or essential. Test characteristics were calculated to compare the device and clinical diagnoses. RESULTS: Mean harmonic peak power was both highly sensitive and specific for distinction of Parkinson disease postural tremor from essential tremor with an optimal threshold for our sample (sensitivity 90.9%, 95% CI 58.7-99.8%; specificity 100%, 95% CI 76.8-100%; Cohen's kappa=0.91, SE=0.08). COMPARISON WITH EXISTING METHODS: The smart watch and analog devices had nearly perfect concordance of peak frequency and proportional harmonic power. The smart watch recordings in clinic took 3-6 min. CONCLUSIONS: A smart watch device can provide accurate and diagnostically relevant information about postural tremor. Its portability and ease of use could help translate such techniques into routine clinic use or to the community.


Assuntos
Acelerometria , Equipamentos e Provisões Elétricas , Doença de Parkinson/diagnóstico , Doença de Parkinson/fisiopatologia , Acelerometria/instrumentação , Acelerometria/métodos , Idoso , Idoso de 80 Anos ou mais , Área Sob a Curva , Diagnóstico Diferencial , Tremor Essencial/diagnóstico , Tremor Essencial/fisiopatologia , Feminino , Mãos , Humanos , Masculino , Pessoa de Meia-Idade , Monitorização Ambulatorial/instrumentação , Monitorização Ambulatorial/métodos , Periodicidade , Curva ROC , Sensibilidade e Especificidade , Gravação em Vídeo
2.
Can J Neurol Sci ; 32(4): 450-8, 2005 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-16408574

RESUMO

BACKGROUND: The spinocerebellar ataxias (SCAs) are a genetically and clinically heterogeneous group of neurodegenerative disorders. Relative frequencies vary within different ethnic groups and geographical locations. OBJECTIVES: 1) To determine the frequencies of hereditary and sporadic adult onset SCAs in the Movement Disorders population; 2) to assess if the fragile X mental retardation gene 1 (FMR1) premutation is found in this population. METHODS: A retrospective chart review of individuals with a diagnosis of adult onset SCA was carried out. Testing for SCA types 1, 2, 3, 6, 7, and 8, Dentatorubral-pallidoluysian atrophy (DRPLA), Friedreich ataxia and the FMR1 expansion was performed. RESULTS: A total of 69 patients in 60 families were identified. Twenty-one (35%) of the families displayed autosomal dominant and two (3.3%) showed autosomal recessive (AR) pattern of inheritance. A positive but undefined family history was noted in nine (15%). The disorder appeared sporadic in 26 patients (43.3%). In the AD families, the most common mutation was SCA3 (23.8%) followed by SCA2 (14.3%) and SCA6 (14.3%). The SCA1 and SCA8 were each identified in 4.8%. FA was found in a pseudodominant pedigree, and one autosomal recessive pedigree. One sporadic patient had a positive test (SCA3).Dentatorubral-pallidoluysian atrophy and FMR1 testing was negative. CONCLUSION: A positive family history was present in 53.3% of our adult onset SCA patients. A specific genetic diagnosis could be given in 61.9% of dominant pedigrees with SCA3 being the most common mutation, followed by SCA2 and SCA6. The yield in sporadic cases was low. The fragile X premutation was not found to be responsible for SCA.


Assuntos
Instituições de Assistência Ambulatorial , Transtornos dos Movimentos , Ataxias Espinocerebelares , Adulto , Idade de Início , Canadá/epidemiologia , Análise Mutacional de DNA , Feminino , Genes Recessivos , Genética Populacional , Humanos , Masculino , Transtornos dos Movimentos/classificação , Transtornos dos Movimentos/diagnóstico , Transtornos dos Movimentos/epidemiologia , Transtornos dos Movimentos/genética , Mutação , Estudos Retrospectivos , Ataxias Espinocerebelares/classificação , Ataxias Espinocerebelares/diagnóstico , Ataxias Espinocerebelares/epidemiologia , Ataxias Espinocerebelares/genética
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