Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Aug 2016
Progression of cognitive impairments in idiopathic REM sleep behaviour disorder.
Idiopathic REM (rapid eye movement) sleep behaviour disorder (iRBD) has been implicated in cognitive impairments, but there is little evidence about progression of cognitive dysfunction in iRBD. ⋯ Patients with iRBD have cognitive impairments at baseline and progressive cognitive decline over time. Even in idiopathic cases without development of any neurodegenerative disease, degenerative changes in cognition seem to be under way.
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J. Neurol. Neurosurg. Psychiatr. · Aug 2016
Sequence of electrode implantation and outcome of deep brain stimulation for Parkinson's disease.
The effect of the variability of electrode placement on outcomes after bilateral deep brain stimulation of subthalamic nucleus has not been sufficiently studied, especially with respect to the sequence of hemisphere implantation. ⋯ We observed a higher dispersion for the electrode on the second implanted side, which also resulted to be a significant predictor of motor outcome at 1 year.
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J. Neurol. Neurosurg. Psychiatr. · Aug 2016
Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients.
To carry out a deep characterisation of the main androgen-responsive tissues involved in spinal and bulbar muscular atrophy (SBMA). ⋯ Our study provides evidence of a wide non-neural clinical phenotype in SBMA, suggesting the need for comprehensive multidisciplinary protocols for these patients.
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J. Neurol. Neurosurg. Psychiatr. · Aug 2016
Clinical features of the myasthenic syndrome arising from mutations in GMPPB.
Congenital myasthenic syndrome (CMS) due to mutations in GMPPB has recently been reported confirming the importance of glycosylation for the integrity of neuromuscular transmission. ⋯ Patients with GMPPB-CMS have phenotypic features aligned with CMS subtypes harbouring mutations within the early stages of the glycosylation pathway. Additional features shared with the dystroglycanopathies include myopathic features, raised CK levels and variable mild cognitive delay. This syndrome underlines that CMS can occur in the absence of classic myasthenic manifestations such as ptosis and ophthalmoplegia or facial weakness, and links myasthenic disorders with dystroglycanopathies. This report should facilitate the recognition of this disorder, which is likely to be underdiagnosed and can benefit from symptomatic treatment.
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J. Neurol. Neurosurg. Psychiatr. · Aug 2016
FRONTIER Executive Screen: a brief executive battery to differentiate frontotemporal dementia and Alzheimer's disease.
Executive dysfunctions are a key clinical feature of behavioural-variant frontotemporal dementia (bvFTD). Such deficits are also found in Alzheimer's disease (AD), making the differentiation between these two diseases difficult at times, particularly in the absence of extensive cognitive assessments. To address this issue, we developed the FRONTIER Executive Screen (FES), which combines three abbreviated measures of verbal fluency, inhibitory control and working memory. ⋯ The FES is a brief (5-10 min) bedside screening measure which is simple to administer and score, and demonstrates good discriminative validity to differentiate bvFTD from AD. It is a useful addendum to general cognitive screening measures and can help with the differential diagnosis of dementia.