Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Apr 2013
ReviewPatterns and predictors of atypical language representation in epilepsy.
In the majority of the normal population, the left hemisphere is dominant for language. In epilepsy, a higher proportion of 'atypical' language representation is encountered. This can follow one of three patterns: (1) altered interhemispheric representation, where the spectrum of lateralisation is shifted to the right; (2) interhemispheric dissociation of linguistic subfunctions; or (3) intrahemispheric changes in representation. ⋯ Widespread and frequent interictal epileptiform discharges are also associated with atypical language. Atypical language representation is more likely to be present when injury or epilepsy onset occurred at a young age. Thus, a subgroup of patients can be defined in whom atypical language representation is more likely to be found.
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J. Neurol. Neurosurg. Psychiatr. · Apr 2013
Case ReportsInfrequent SCN9A mutations in congenital insensitivity to pain and erythromelalgia.
Mutations in SCN9A have been reported in (1) congenital insensitivity to pain (CIP); (2) primary erythromelalgia; (3) paroxysmal extreme pain disorder; (4) febrile seizures and recently (5) small fibre sensory neuropathy. We sought to investigate for SCN9A mutations in a clinically well-characterised cohort of patients with CIP and erythromelalgia. ⋯ Two novel SCN9A mutations were identified, but frequently polymorphism variants are found which may provide susceptibility factors in pain modulation. CIP and erythromelalgia are defined as genetically heterogeneous, and some SCN9A variants previously considered causal may only be modifying factors.
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J. Neurol. Neurosurg. Psychiatr. · Apr 2013
Progressive changes in a recognition memory network in Parkinson's disease.
In a previous functional MRI (fMRI) study, we found that patients with Parkinson's disease (PD) presented with dysfunctions in the recruitment of recognition memory networks. We aimed to investigate the changes in these networks over time. ⋯ Model free fMRI and cross correlation connectivity analyses were able to detect progressive changes in functional networks involved in recognition memory in PD patients at early disease stages and without overt clinical deterioration. Functional connectivity analyses could be useful to monitor changes in brain networks underlying neuropsychological deficits in PD.
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J. Neurol. Neurosurg. Psychiatr. · Apr 2013
Phosphorylated neurofilament heavy subunit (pNF-H) in peripheral blood and CSF as a potential prognostic biomarker in amyotrophic lateral sclerosis.
The phosphorylated neurofilament heavy subunit (pNF-H), a major structural component of motor axons, is a promising putative biomarker in amyotrophic lateral sclerosis (ALS) but has been studied mainly in CSF. We examined pNF-H concentrations in plasma, serum and CSF as a potential biomarker for disease progression and survival in ALS. ⋯ In ALS, increased pNF-H concentration in plasma, serum and CSF appears to be associated with faster disease progression. Factors affecting pNF-H levels or their detection in serum and plasma in relation to disease course may differ from those in CSF. Data raising the possibility that site of ALS onset (bulbar vs spinal) may influence pNF-H levels in peripheral blood seems noteworthy but requires confirmation. These data support further study of pNF-H in CSF, serum and plasma as a potential ALS biomarker.
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J. Neurol. Neurosurg. Psychiatr. · Apr 2013
Central nervous system abnormalities in patients with PMP22 gene mutations: a prospective study.
Mutations of the peripheral myelin protein-22 (PMP22) gene are the most common cause of inherited disease of the peripheral nervous system (PNS), with its deletion resulting in hereditary neuropathy with liability to pressure palsies (HNPP), and its duplication inducing Charcot-Marie-Tooth 1A (CMT1A) disease. Although mainly expressed in the PNS, PMP22 mRNA and protein are also present in the central nervous system (CNS). ⋯ This study demonstrates that altered PMP22 gene expression induces significant CNS alterations in patients with HNPP and CMT1A, including cerebral WM abnormalities and cognitive impairment.