Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Aug 2004
Meta AnalysisOctapeptide repeat insertions in the prion protein gene and early onset dementia.
The most common familial early onset dementia mutations are found in the genes involved in Alzheimer's disease; the amyloid precursor protein (APP) and the presenilin 1 and 2 (PSEN1 and 2) genes; the prion protein gene (PRNP) may be involved. ⋯ Our findings show significant inverse associations of the length of the PRNP octapeptide repeat with age at disease onset and disease duration in the spongiform encephalopathies.
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J. Neurol. Neurosurg. Psychiatr. · Aug 2004
Case ReportsTwo families with autosomal dominant progressive external ophthalmoplegia.
We report here the clinical and genetic features of two new families with autosomal dominant progressive external ophthalmoplegia (adPEO). ⋯ Our cases illustrate the clinical variability of adPEO, add a novel pathogenic mutation in Twinkle (F485L) to the growing list of genetic abnormalities in adPEO, and reinforce the relevance of other yet unidentified genes in mtDNA maintenance and pathogenesis of adPEO.
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J. Neurol. Neurosurg. Psychiatr. · Jul 2004
Survival and quality of life outcome after mechanical ventilation in elderly stroke patients.
Mortality is high and functional outcome poor in mechanically ventilated stroke patients. In addition, age >65 years is an independent predictor of death at 2 months among these patients. Our objective was to determine survival rates, functional outcome, and quality of life (QoL) in stroke patients older than 65 years requiring mechanical ventilation. ⋯ Although only 40% of elderly patients intubated in the acute phase of stroke survived at least 6 months, one in four survivors recovered to a good functional outcome with a reasonable QoL. Elderly stroke patients need to be selected carefully for intensive care treatment, but elective intubation to allow diagnostic procedures should not be withheld primarily based on their age.