Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Jan 2013
Case ReportsDistal myopathy with cachexia: an unrecognised phenotype caused by dominantly-inherited mitochondrial polymerase γ mutations.
The myopathy associated with mutations in the nuclear-encoded mitochondrial DNA maintenance gene POLG, coding for the catalytic subunit of DNA polymerase, is typically proximal with early ophthalmoplegia. ⋯ Distal upper limb myopathy/cachexia is not previously described with dominant POLG mutations and our observations further highlight the diverse clinical spectrum of POLG-related mitochondrial disorders. These data indicate that dominant POLG mutations should be considered in the differential diagnosis of distal upper limb predominant myopathy.
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J. Neurol. Neurosurg. Psychiatr. · Jan 2013
Voxel-wise mapping of cervical cord damage in multiple sclerosis patients with different clinical phenotypes.
To apply voxel-based methods to map the regional distribution of atrophy and T2 hyperintense lesions in the cervical cord of multiple sclerosis (MS) patients with different clinical phenotypes. ⋯ Voxel-based assessment of cervical cord damage is feasible and may contribute to a better characterisation of the clinical heterogeneity of MS patients.
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J. Neurol. Neurosurg. Psychiatr. · Jan 2013
Case ReportsConcurrence of multiple sclerosis and amyotrophic lateral sclerosis in patients with hexanucleotide repeat expansions of C9ORF72.
Crossover in the pathogenic mechanisms of amyotrophic lateral sclerosis (ALS) and multiple sclerosis (MS) has been described but is poorly understood. A GGGGCC hexanucleotide repeat expansion of C9ORF72 has recently been identified in a significant proportion of patients with ALS. ⋯ We propose that MS-associated neuroinflammation may affect penetrance and progression of the C9ORF72 expansion. In particular, the NF-кB pathway is activated in MS and appears to be dysfunctional in C9ORF72-ALS. Aberrant downregulation of CXCL10 may explain the predisposition of C9ORF72 expansion carriers to develop ALS in the context of MS and NF-кB activation, and offers a potential therapeutic target.
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J. Neurol. Neurosurg. Psychiatr. · Jan 2013
Dynamics of brain structure and cognitive function in the Alzheimer's disease neuroimaging initiative.
On average, cognition declines as people age, but improvement can also occur. ⋯ Despite average decline in brain structure, improvement was observed and related to cognition and MCI-AD conversion. Ageing-related brain changes reflect a dynamic process.
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J. Neurol. Neurosurg. Psychiatr. · Jan 2013
Trends in presurgical evaluation and surgical treatment of epilepsy at one centre from 1988-2009.
Presurgical epilepsy diagnostics and surgical treatment have become standard procedures of neurology. Here, we report on presurgical patients grouped according to their underlying pathology by giving results of presurgical evaluation, surgical therapy and long-term follow-up between 1989-2009 and describe trends over this period. ⋯ Epilepsy surgery is highly effective, especially in patients with clearly defined focal pathologies. At this specialised centre, there is a trend towards growing numbers of difficult patients and increasing epilepsy duration prior to referral for presurgical assessment.