Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Nov 2013
Impaired perfusion modifies the relationship between blood pressure and stroke risk in major cerebral artery disease.
Blood pressure (BP) lowering may increase stroke risk in patients with symptomatic major cerebral artery disease and impaired perfusion. To investigate the relationships among BP, impaired perfusion and stroke risk. ⋯ Impaired perfusion modified the relationship between blood pressure and stroke risk, although this study had limitations including the retrospective analysis, the potentially biased sample, the small number of critical events and the fact that BP was measured only as a snapshot in clinic.
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J. Neurol. Neurosurg. Psychiatr. · Nov 2013
Case ReportsAtypical Bickerstaff brainstem encephalitis: ataxic hypersomnolence without ophthalmoplegia.
Clinical and immunological evaluation of 'incomplete' Bickerstaff brainstem encephalitis (BBE). ⋯ Ophthalmoplegia can be absent or incomplete in BBE, and the absence of this clinical feature should not exclude BBE from the clinicians' differential. Such cases of incomplete BBE could be defined as 'ataxic hypersomnolence without ophthalmoplegia'.
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J. Neurol. Neurosurg. Psychiatr. · Nov 2013
The CamPaIGN study of Parkinson's disease: 10-year outlook in an incident population-based cohort.
Prognosis in Parkinson's disease (PD) remains poorly understood due to a lack of unbiased data on the natural history of treated PD. The CamPaIGN study has been the first to prospectively track disease evolution from diagnosis in an unselected population-representative incident cohort. We now report the 10-year follow-up data, focusing on three key irreversible milestones: postural instability (Hoehn and Yahr 3), dementia and death. ⋯ (1) outlook in PD is heterogeneous, with most dying or developing dementia or postural instability by 10 years from diagnosis, but a quarter still doing well, with preserved mobility and intact cognition; (2) death is not directly related to PD in the majority; (3) baseline clinical and genetic variables are predictive of outcome and may be helpful in selecting patients for clinical trials.
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J. Neurol. Neurosurg. Psychiatr. · Nov 2013
Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2.
Charcot-Marie-Tooth (CMT) disease is a genetically heterogeneous condition with >50 genes now being identified. Thanks to new technological developments, namely, exome sequencing, the ability to identify additional rare genes in CMT has been drastically improved. Here we present data suggesting that MARS is a very rare novel cause of late-onset CMT2. This is supported by strong functional and evolutionary evidence, yet the absence of additional unrelated cases warrant future studies to substantiate this conclusion.
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J. Neurol. Neurosurg. Psychiatr. · Nov 2013
Association of silent lacunar infarct with brain atrophy and cognitive impairment.
Silent lacunar infarct (SLI) is associated with cognitive decline and linked to an increased risk of stroke and dementia. We examined the association of SLI with MRI measures of cortical thickness, subcortical and lateral ventricular shapes and cognition in 285 ethnic Chinese elderly. ⋯ Our findings support a vascular contribution to neurodegeneration and cognitive impairment.