Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Sep 2012
Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations.
Spinocerebellar ataxia syndromes presenting in adulthood have a broad range of causes, and despite extensive investigation remain undiagnosed in up to ∼50% cases. Mutations in the mitochondrially encoded MTATP6 gene typically cause infantile-onset Leigh syndrome and, occasionally, have onset later in childhood. The authors report two families with onset of ataxia in adulthood (with pyramidal dysfunction and/or peripheral neuropathy variably present), who are clinically indistinguishable from other spinocerebellar ataxia patients. ⋯ MTATP6 sequencing should be considered in the workup of undiagnosed ataxia, even if other investigations do not suggest a mitochondrial DNA disorder.
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J. Neurol. Neurosurg. Psychiatr. · Sep 2012
Visuospatial deficits in posterior cortical atrophy: structural and functional correlates.
To determine the neural substrates of biased spatial orienting in posterior cortical atrophy (PCA) by using a combined structural and functional neuroimaging approach. ⋯ The results indicate that rightward bias (sign of left-sided neglect) in PCA depends on dysfunction of a large fronto-parietal network in the right hemisphere, related to both cortical atrophy and decreased cerebral perfusion.
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J. Neurol. Neurosurg. Psychiatr. · Sep 2012
Midcingulate involvement in progressive supranuclear palsy and tau positive frontotemporal dementia.
Progressive supranuclear palsy (PSP) patients often exhibit cognitive decline and behavioural changes during the disease course. In a subset, these symptoms may be the presenting manifestation and can be similar to those in frontotemporal dementia (FTD). However, correlation studies between quantitative imaging measures and detailed neuropsychological assessment are scarce. The aim of this study was to investigate the functional role of affected brain regions in cognition in PSP compared with controls and subsequently examine these regions in FTD patients with known tau pathology (FTD tau). ⋯ The posterior part of the MCC is prominently involved in the neurodegenerative process of PSP, and the severity of its hypoperfusion correlated with the extent of executive dysfunction. In FTD tau, this cognitive domain was associated with anterior MCC involvement. The degree of hypoperfusion in these regions did not differ between PSP and FTD tau. These observations provide insight into the role of the cingulate cortex in cognitive dysfunction in these neurodegenerative disorders and warrant further investigations.
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J. Neurol. Neurosurg. Psychiatr. · Sep 2012
Non-demyelinating, reversible conduction failure in Fisher syndrome and related disorders.
IgG anti-GQ1b antibodies are associated with Fisher syndrome (FS), Bickerstaff brainstem encephalitis (BBE), acute ophthalmoparesis and overlap of FS or BBE with Guillain--Barré syndrome (GBS) (FS/GBS or BBE/GBS). It has not been clearly established if the primary pathology of these disorders is demyelinating or axonal in nature. Rapid resolution of conduction slowing or block without signs of demyelination--remyelination has been reported in axonal subtypes of GBS that are associated with IgG anti-GM1 or -GD1a antibodies. We hypothesised that such reversible conduction failure would be also observed in FS and related disorders. ⋯ Reversible conduction failure was seen in six of the 15 patients with FS and related disorders on serial nerve conduction studies. There were no signs of demyelination or remyelination in the 15 patients. The pathology appears to be primarily non-demyelinating. We believe these conditions form a continuous spectrum with axonal GBS.
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J. Neurol. Neurosurg. Psychiatr. · Sep 2012
Antibodies against the main immunogenic region of the acetylcholine receptor correlate with disease severity in myasthenia gravis.
We developed an assay that detects autoantibodies against the main immunogenic region (MIR) located at the extracellular end of the nicotinic acetylcholine receptor (AChR) α subunit, and investigated its clinical relevance in myasthenia gravis (MG). ⋯ MIR Ab titre levels show much better correlations with factors related to disease severity compared with AChR binding Ab titres. The MIR Ab assay may be useful for predicting MG symptom severity, especially for discriminating between ocular and generalised types of MG.