Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Jul 2004
The generic 15D instrument is valid and feasible for measuring health related quality of life in Parkinson's disease.
To test the validity and feasibility of the generic 15D health related quality of life (HRQoL) instrument in Parkinson's disease (PD) and compare parkinsonian patients with the general population. Much effort has gone into developing disease specific HRQoL measures for PD, but only generic measures allow comparisons with the general population. New HRQoL tools are needed for PD because earlier ones have low feasibility in elderly patients. ⋯ 15D is a valid, feasible, and sensitive tool to assess quality of life in PD. PD has a major impact on HRQoL, which is related to disease progression. Mobility, eating, speech, and sexual functions are most affected. The ADL measure of the UPDRS and the 15D provide an easily assessable view of HRQoL in PD.
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J. Neurol. Neurosurg. Psychiatr. · Jul 2004
Novel amyloid precursor protein gene missense mutation (D678N) in probable familial Alzheimer's disease.
To describe a novel missense mutation, Asp678Asn (D678N), in the amyloid precursor protein (APP) gene in a Japanese pedigree of probable familial Alzheimer's disease (FAD). ⋯ The production and accumulation of mutated Abeta (Asn7-Abeta) or the misfunction of D678N mutant APP may have pathogenic properties for the development of Alzheimer's disease in this pedigree.
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J. Neurol. Neurosurg. Psychiatr. · Jul 2004
ReviewStereotactic radiosurgery for primary trigeminal neuralgia: state of the evidence and recommendations for future reports.
To identify systematically all the studies reporting outcomes and complications of stereotactic radiosurgery for trigeminal neuralgia and to evaluate them against predefined quality criteria. ⋯ Outcomes after stereotactic radiosurgery appear in line with other ablative techniques. Results are better when it is used as primary treatment in patients with typical symptoms. Current data are largely observational and the quality is generally poor. This technique should be evaluated in a randomised, controlled trial with universal outcome measures, actuarial methodology, and validated measures of patient satisfaction and quality of life.
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J. Neurol. Neurosurg. Psychiatr. · Jul 2004
Meta AnalysisTau gene and Parkinson's disease: a case-control study and meta-analysis.
To investigate whether the tau H1 haplotype is a genetic risk factor in Parkinson's disease and to report a meta-analysis on all previously published data ⋯ Homozygosity for the tau H1 is associated with an increased risk of Parkinson's disease. This adds to the growing body of evidence that common genetic variation contributes to the pathogenesis of this disorder.