Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Mar 2014
ReviewPharyngeal-cervical-brachial variant of Guillain-Barre syndrome.
The pharyngeal-cervical-brachial (PCB) variant of Guillain-Barré syndrome is defined by rapidly progressive oropharyngeal and cervicobrachial weakness associated with areflexia in the upper limbs. Serial nerve conduction studies suggest that PCB represents a localised subtype of Guillain-Barré syndrome characterised by axonal rather than demyelinating neuropathy. Many neurologists are unfamiliar with PCB, which is often misdiagnosed as brainstem stroke, myasthenia gravis or botulism. ⋯ Half of patients with PCB carry IgG anti-GT1a antibodies which often cross-react with GQ1b, whereas most patients with Fisher syndrome carry IgG anti-GQ1b antibodies which always cross-react with GT1a. Significant overlap between the clinical and serological profiles of these patients supports the view that PCB and Fisher syndrome form a continuous spectrum. In this review, we highlight the clinical features of PCB and outline new diagnostic criteria.
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J. Neurol. Neurosurg. Psychiatr. · Mar 2014
Multicenter StudyMycophenolate mofetil in multiple sclerosis: a multicentre retrospective study on 344 patients.
Mycophenolate mofetil (MMF) is an immunosuppressive agent, sometimes used as a disease-modifying therapy for multiple sclerosis (MS). Several studies have reported the relative safety of this treatment but, to date, its efficacy has rarely been described. We performed a retrospective study to assess the safety and efficacy of MMF in patients with MS. ⋯ Our results suggest that MMF can improve or stabilise MS patients and can be used as an alternative therapy.
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J. Neurol. Neurosurg. Psychiatr. · Mar 2014
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure.
Titin gene (TTN) mutations have been described in eight families with hereditary myopathy with early respiratory failure (HMERF). Some of the original patients had features resembling myofibrillar myopathy (MFM), arguing that TTN mutations could be a much more common cause of inherited muscle disease, especially in presence of early respiratory involvement. ⋯ Mutations in TTN are a cause of MFM, and titinopathy is more common than previously thought. The finding of the p.C30071R mutation in 3.9% of our study population is likely due to a British founder effect. The occurrence of novel FN3 domain variants, although still of uncertain pathogenicity, suggests that other mutations in this domain may cause MFM, and that the disease is likely to be globally distributed. We suggest that HMERF due to mutations in the TTN gene be nosologically classified as MFM-titinopathy.
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J. Neurol. Neurosurg. Psychiatr. · Mar 2014
Greater medial temporal hypometabolism and lower cortical amyloid burden in ApoE4-positive AD patients.
Apolipoprotein E ε4 (ApoE4) has been associated with an increased risk of Alzheimer's disease (AD), amyloid deposition and hypometabolism. ApoE4 is less prevalent in non-amnestic AD variants suggesting a direct effect on the clinical phenotype. However, the impact of ApoE4 on amyloid burden and glucose metabolism across different clinical AD syndromes is not well understood. We aimed to assess the relationship between amyloid deposition, glucose metabolism and ApoE4 genotype in a clinically heterogeneous population of AD patients. ⋯ ApoE4+ AD patients showed lower global amyloid burden and greater medial temporal hypometabolism compared with matched ApoE4- patients. These findings suggest that ApoE4 may increase susceptibility to molecular pathology and modulate the anatomic pattern of neurodegeneration in AD.
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J. Neurol. Neurosurg. Psychiatr. · Mar 2014
Interhemispheric difference of pallidal local field potential activity in cervical dystonia.
Cervical dystonia (CD) produces involuntary neck muscle contractions that result in abnormal and often asymmetrical postures of the head and neck. Basal ganglia oscillatory activity in the 3-12 Hz band correlating with involuntary muscle activity suggests a role in the pathophysiology of primary dystonia. Despite the asymmetrical postures seen with CD, no comparison of interhemispheric differences of pallidal local field potential (LFP) activity has been reported. ⋯ Interhemispheric differences in synchronisation of pallidal LFP activity in 4-12 Hz and 13-30 Hz bands are related to the CD clinical condition, suggesting that these frequencies are important in the pathophysiology of dystonia.