Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Aug 2010
Case ReportsA wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation.
Mutations in the calcium channel voltage dependent P/Q-type alpha-1A subunit (CACNA1A) can cause different neurological disorders which share a wide range of symptoms, including episodic ataxia type 2 (EA2), familial hemiplegic migraine (FHM1) and progressive spinocerebellar ataxia (SCA6). ⋯ This novel CACNA1A mutation adds to the number of mutations associated with a heterogeneous clinical picture in family members. This mutation might affect the interaction between the intracellular loops and the beta subunit, leading to a relatively rapid cell death. In order to explain the wide phenotypic variability observed in this family, it is hypothesised that additional genetic and environmental (hormonal) factors play a role in the pathophysiology of the disease.
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J. Neurol. Neurosurg. Psychiatr. · Aug 2010
Long-term effects of vestibular compensation on balance control and sensory organisation after unilateral deafferentation due to vestibular schwannoma surgery.
The time-course of central adaptive mechanisms after vestibular schwannoma surgical removal allows, 3 months after surgery (middle term), a satisfactory recovery of balance control. However, the long-term evolution of postural control beyond the end of usual medical follow-up remains unknown. ⋯ Postural control performances improved 3 months after surgery compared with before surgery; they continued to improve at 6 and 12 months after surgery, especially in conditions highly soliciting vestibular information. In the long term, strategies based on sensorimotor and/or behavioural substitution seem to be reinforced and fine-tuned, particularly in complex postural situations, for which only vestibular information is reliable to control balance.
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J. Neurol. Neurosurg. Psychiatr. · Aug 2010
Case ReportsThe enigma of 7q36 linked autosomal dominant limb girdle muscular dystrophy.
Two families with autosomal dominant limb girdle muscular dystrophy (LGMD) have previously been linked to a locus on chromosome 7q36 10 years ago. The locus has been termed both LGMD1D and 1E, but because of lack of additional families to narrow down the linked region of interest, this disease has remained elusive. ⋯ Advancement towards the causative gene defect in the 7q36 linked disease needs new additional families to narrow the region of interest. The phenotype in the previously linked families has not been reported in full detail, which may be one reason for the shortage of additional families. A comprehensive clinical and morphological phenotype of chromosome 7q36 linked autosomal dominant LGMD with a restricted and updated 6.4 Mb sized haplotype is reported here.
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J. Neurol. Neurosurg. Psychiatr. · Aug 2010
Comparative StudyA comparison of neuropsychiatric and cognitive profiles in delirium, dementia, comorbid delirium-dementia and cognitively intact controls.
Delirium and dementia have overlapping features that complicate differential diagnosis. Delirium symptoms overshadow dementia symptoms when they co-occur, but delirium phenomenology in comorbid cases has not been compared to both conditions alone. ⋯ Delirium phenomenology is similar with or without comorbid dementia. A wide range of neuropsychiatric symptoms distinguish delirium from dementia. Spatial span forward is disproportionately diminished in delirium suggesting usefulness as a differentiating screening test.
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J. Neurol. Neurosurg. Psychiatr. · Aug 2010
Randomized Controlled TrialAnalysis of clinical outcomes according to original treatment groups 16 years after the pivotal IFNB-1b trial.
Evidence for efficacy of disease-modifying drugs in multiple sclerosis (MS) comes from trials of short duration. We report results from a 16 y, retrospective follow-up of the pivotal interferon beta-1b (IFNB-1b) study. ⋯ The original treatment assignment could not be shown to influence standard assessments of long-term efficacy. On-study behaviour of patients was influenced by factors that could not be controlled with the sacrifice of randomisation and blinding. Mortality was higher in patients originally assigned to placebo than those who had received IFNB-1b 50 microg or 250 microg. The dataset provides important resources to explore early predictors of long-term outcome.