Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Sep 2010
Effect sizes can be misleading: is it time to change the way we measure change?
Previous comparisons of the ability to detect change in the Barthel Index (BI) and Functional Independence Measure motor scale (FIMm) have implied these two scales are equally responsive when examined using traditional effect size statistics. Clinically, this is counterintuitive as the FIMm has greater potential to detect change than the BI and raises concerns about the validity of effect size statistics as indicators of rating scale responsiveness. To examine these concerns, in this study a sophisticated psychometric analysis was applied, Rasch measurement to BI and FIMm data. ⋯ These findings demonstrate that effect size calculations are limited and potentially misleading indicators of rating scale responsiveness at the group comparison level. Rasch analysis at the individual person level showed the superior responsiveness of the FIMm, supporting clinical expectation, and its added value as a method for examining and comparing rating scale responsiveness.
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J. Neurol. Neurosurg. Psychiatr. · Sep 2010
Case ReportsThe first case of protease-sensitive prionopathy (PSPr) in The Netherlands: a patient with an unusual GSS-like clinical phenotype.
An atypical case of prion disease is described in a 54-year-old Dutch man, homozygous for valine at codon 129 of the prion protein gene (PRNP). The clinical phenotype was characterised by progressive dementia, spastic paraplegia and sensorimotor polyneuropathy. The disease duration was 20 months. ⋯ However, Western blotting showed low but detectable levels of proteinase K(PK)-resistant PrP(Sc) occurring in an unusual ladder-like profile. These features define a phenotype that corresponds to the recently described protease-sensitive prionopathy (PSPr). Our report on the first Dutch patient with PSPr further expands the spectrum of prionopathies and exemplifies the need to re-evaluate cases of atypical prion disease.
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J. Neurol. Neurosurg. Psychiatr. · Sep 2010
Photophobia in migraine: an interictal PET study of cortical hyperexcitability and its modulation by pain.
Photophobia is an abnormal sensitivity to light experienced by migraineurs and is perhaps caused by cortical hyperexcitability. In clinical studies, an inter-relation between light perception and trigeminal nociception has been demonstrated in migraineurs but not in controls. The purpose of the study was to verify this interaction by functional imaging. ⋯ The study shows the lack of habituation and/or cortical hyperexcitability to light in migraineurs. Moreover, the activation by light of several visual cortex areas (including the primary visual cortex) was potentiated by trigeminal pain, demonstrating multisensory integration in these areas.
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J. Neurol. Neurosurg. Psychiatr. · Sep 2010
Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot-Marie-Tooth and distal hereditary motor neuropathy.
Heat shock protein 27 (HSP27) mutations have been reported to cause both Charcot-Marie-Tooth disease (CMT) type 2F and distal hereditary motor neuropathy (dHMN) although never previously in a single family. ⋯ Findings obtained in the present study, broadening the spectrum of clinical manifestations of disorders associated with HSP27 mutations, support the hypothesis of a continuum between CMT2 and dHMN forms and suggest a possible common spectrum between these entities and several forms of CMT plus pyramidal features (HMSN V), providing important implications for molecular genetic testing.