Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Aug 2003
Long term neuropsychological outcome after head injury: relation to APOE genotype.
Existing evidence suggests that some patients who sustain a head injury suffer cognitive decline many years later, and that head injury and possession of the APOE epsilon 4 allele are each risk factors for Alzheimer's disease. ⋯ Although this study provides additional evidence that a late decline may occur after head injury, there was no clear relation to APOE genotype. Despite the follow up interval of 15 to 25 years, the cohort is still too young (mean age 42.1 years) to assess the risk of Alzheimer's disease.
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J. Neurol. Neurosurg. Psychiatr. · Aug 2003
Motor system abnormalities in hereditary spastic paraparesis type 4 (SPG4) depend on the type of mutation in the spastin gene.
Hereditary spastic paraparesis (HSP) denotes a group of inherited neurological disorders with progressive lower limb spasticity as their clinical hallmark; a large proportion of autosomal dominant HSP belongs to HSP type 4, which has been linked to the SPG4 locus on chromosome 2. A variety of mutations have been identified within the SPG4 gene product, spastin. ⋯ For the first time in hereditary spastic paraparesis, a phenotypic correlate of a given genetic change in the spastin gene has been shown.
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J. Neurol. Neurosurg. Psychiatr. · Aug 2003
Evidence of underdiagnosis of myasthenia gravis in older people.
Myasthenia gravis is a potentially serious but treatable muscle disease caused by autoantibodies directed at the acetylcholine receptor (AChR) on the postsynaptic membrane of the neuromuscular junction. There is anecdotal evidence that the diagnosis is sometimes missed in older patients. ⋯ The sharp fall in the incidence of clinically recognised myasthenia gravis in people over 80 years of age in our national AChR antibody incidence study, and the high prevalence of previously unrecognised positive AChR antibodies in those > or =75 years old, suggest that myasthenia gravis may be substantially underdiagnosed in older people.
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J. Neurol. Neurosurg. Psychiatr. · Aug 2003
A novel quality of life instrument for deep brain stimulation in movement disorders.
To develop a short instrument to examine quality of life (QoL) which specifically addresses patients with movement disorders treated by deep brain stimulation (DBS). ⋯ QLS(M)-MD and QLS(M)-DBS can evaluate quality of life aspects of DBS in movement disorders. Psychometric evaluation showed the questionnaires to be reliable, valid, and well accepted by the patients.
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Migraine with aura (MA) arises from a combination of genetic and environmental factors. The sibling risk, age at onset, and aura type were compared in 54 MA probands categorised by family history of MA. Three family types were ascertained each having an MA proband and: (1) an MA parent and MA offspring (three generation; n=15), (2) either an MA parent or an MA offspring (two generation; n=20), and (3) neither an MA parent nor an MA offspring (one generation; n=19). ⋯ The MA probands from three generation families were significantly younger than probands from the one generation families (F=5.14, p=0.030). MA probands from three generation families were more likely to report more than one type of aura than MA probands from two generation families (chi(2)=4.44, p=0.035). The significant difference in genetic loading and the earlier age at onset in the three generation families add further evidence for a genetic basis for MA and the difference in sibling risks demonstrates that the MA population is heterogeneous.