Journal of neurology, neurosurgery, and psychiatry
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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
New aspects on patients affected by dysferlin deficient muscular dystrophy.
Mutations in the dysferlin gene lead to limb girdle muscular dystrophy 2B, Miyoshi myopathy and distal anterior compartment myopathy. A cohort of 36 patients affected by dysferlinopathy is described, in the first UK study of clinical, genetic, pathological and biochemical data. The diagnosis was established by reduction of dysferlin in the muscle biopsy and subsequent mutational analysis of the dysferlin gene. ⋯ Independent of the initial mode of presentation, in our cohort of patients the gastrocnemius muscle was the most severely affected muscle leading to an inability to stand on tiptoes, and lower limbs were affected more severely than upper limbs. As previous anecdotal evidence on patients affected by dysferlinopathy suggests good muscle prowess before onset of symptoms, we also investigated pre-symptomatic fitness levels of the patients. Fifty-three per cent of the patients were very active and sporty before the onset of symptoms which makes the clinical course of dysferlinopathy unusual within the different forms of muscular dystrophy and provides a challenge to understanding the underlying pathomechanisms in this disease.
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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.
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J. Neurol. Neurosurg. Psychiatr. · Sep 2010
Case ReportsMicrovascular decompression of the trigeminal nerve in the treatment of SUNCT and SUNA.
Medical management of short-lasting unilateral neuralgiform headache with conjunctival injection and tearing (SUNCT) syndrome and short-lasting unilateral neuralgiform headache attacks with cranial autonomic symptoms (SUNA) is often unsatisfactory. ⋯ Medically intractable SUNCT and SUNA subjects with a demonstrable aberrant arterial loop impinging on the trigeminal nerve on neuroimaging may benefit from microvascular decompression.
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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.