Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · May 2015
Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure.
In hereditary myopathy with early respiratory failure (HMERF), cytoplasmic bodies (CBs) are often localised in subsarcolemmal regions, with necklace-like alignment (necklace CBs), in muscle fibres although their sensitivity and specificity are unknown. ⋯ The necklace CB is a useful diagnostic marker for HMERF. When muscle pathology shows necklace CBs, sequencing the FN3 119 domain of A-band in TTN should be considered.
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J. Neurol. Neurosurg. Psychiatr. · May 2015
Clonality of anti-GM1 IgM antibodies in multifocal motor neuropathy and the Guillain-Barré syndrome.
Multifocal motor neuropathy (MMN) and the Guillain-Barré syndrome (GBS) are immune-mediated motor neuropathies with antibodies against the ganglioside GM1. In GBS, these antibodies are induced by molecular mimicry, but in MMN their origin is elusive. ⋯ Anti-GM1 IgM antibodies in most patients with MMN are produced by only a single or very limited number of B-cell clones, whereas in most patients with GBS, anti-GM1 IgM antibodies are most likely polyclonal.
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J. Neurol. Neurosurg. Psychiatr. · May 2015
Female gender doubles executive dysfunction risk in ALS: a case-control study in 165 patients.
Cognitive impairment, mainly characterised by executive dysfunction, occurs in about half of cases in amyotrophic lateral sclerosis (ALS). There is evidence that gender influences some clinical features of the disease, but its influence on the cognitive spectrum is unknown. Our objective was to investigate the impact of gender on cognitive profiles of patients with ALS. ⋯ Results highlight a significant vulnerability of ALS female patients to develop cognitive dysfunctions peculiar to the disease, independently of bulbar onset. The explicative hypotheses of the data are focused on two interpretative lines not mutually exclusive: the role of gonadal hormones and gender-related brain asymmetry pre-existing to the disease. These findings, never reported before in the literature, can have important implications for models of ALS pathogenesis and for future clinical trial designs.
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J. Neurol. Neurosurg. Psychiatr. · May 2015
Letter Observational StudyAn observational study of asymmetry in CMT1A.