Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Dec 2012
A sensitive scale to assess nociceptive pain in patients with disorders of consciousness.
To determine the sensitivity of the Nociception Coma Scale (NCS), the first scale developed to assess nociceptive pain in vegetative state and minimally conscious state patients, in comparing behavioural changes in response to noxious versus non-noxious stimulation. ⋯ We propose a new version of the NCS excluding the visual subscale, the NCS-R, which constitutes a highly sensitive tool to assess responses to nociceptive pain in severely brain injured patients.
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J. Neurol. Neurosurg. Psychiatr. · Dec 2012
Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls.
TRPV4 mutations have been identified in Charcot-Marie-Tooth type 2 (CMT2), scapuloperoneal spinal muscular atrophy and distal hereditary motor neuropathy (dHMN). ⋯ In this comprehensive analysis of the TRPV4 gene, we identified mutations in <1% of patients with CMT2/dHMN. We found that TRPV4 likely harbours many missense and nonsense non-pathogenic variants that should be analysed in detail to prove pathogenicity before results are given to patients.
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J. Neurol. Neurosurg. Psychiatr. · Dec 2012
Should we be 'nervous' about coeliac disease? Brain abnormalities in patients with coeliac disease referred for neurological opinion.
To examine the extent of brain abnormality in patients with coeliac disease referred for neurological opinion and evaluate MR imaging sequences as biomarkers for neurological dysfunction, given the lack of readily available serological markers of neurological disease in this cohort. ⋯ Patients with established coeliac disease referred for neurological opinion show significant brain abnormality on MR imaging. MR imaging may provide valuable biomarkers of disease in this patient cohort.
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To assess the diagnostic value of the bereitschaftspotential (BP) in jerky movement disorders. ⋯ We demonstrate that the BP can aid in the differentiation of jerky movements. Patients with psychogenic jerks significantly more often have a BP prior to their jerks and with a significantly earlier onset compared with GTS patients. A novel finding of our study is the absence of a BP prior to intentional movements for patients with psychogenic jerks. Validation in a prospective cohort is needed.
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J. Neurol. Neurosurg. Psychiatr. · Dec 2012
Episodic memory and the medial temporal lobe: not all it seems. Evidence from the temporal variants of frontotemporal dementia.
Disproportionate medial temporal lobe atrophy (MTA) is an early finding in Alzheimer's disease (AD). Episodic memory impairment in AD is associated with the degree of MTA. Episodic memory impairment and MTA are also found in semantic dementia (SD) and in right temporal lobe atrophy (RTLA), the temporal variants of frontotemporal dementia, but their relationship is unclear. ⋯ Since episodic memory impairment is more severe in AD than in SD and RTLA, despite a comparable degree of MTA, atrophy of the medial temporal lobe alone cannot account for episodic memory dysfunction.