Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Nov 2014
Application of whole exome sequencing in undiagnosed inherited polyneuropathies.
Inherited polyneuropathies often go undiagnosed. We investigated whole exome sequencing (WES) in utility to identify the genetic causes of diverse forms of inherited polyneuropathies without genetic diagnosis. ⋯ Diverse inherited neuropathy patients without genetic discovery by candidate gene testing have a favourable probability of receiving a genetic diagnosis by WES. Frequently, atypical phenotypes account for earlier failed candidate approaches, and WES is demonstrated to expand the clinical spectrum of known pathogenic mutations.
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J. Neurol. Neurosurg. Psychiatr. · Nov 2014
Multiple changes of functional connectivity between sensorimotor areas in focal hand dystonia.
Task-specific focal hand dystonia impairs the control of arm muscles during fine motor skills such as writing (writer's cramp (WC)). Functional imaging found abnormal task-related activation of sensorimotor areas in this disorder, but little is known on their functional connectivity (FC). ⋯ An increase of negative cerebello-cortical FC at rest is in line with the hypothesis of a pathogenetic role of the cerebellum in dystonia. The deficit of positive subcortico-cortical FC indicates more generalised changes within the basal ganglia-thalamocortical motor loops beyond primary sensorimotor areas in WC. As patients with WC are asymptomatic during rest, these functional network changes could reflect an underlying abnormality or compensatory neuroplastic changes of network architecture in this disorder.
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J. Neurol. Neurosurg. Psychiatr. · Nov 2014
Cerebral infarction and tuberculoma in central nervous system tuberculosis: frequency and prognostic implications.
Tuberculoma and cerebral infarctions are serious complications of central nervous system (CNS) tuberculosis. However, there are no studies comparing prognostic value of tuberculoma and infarcts alone and in patients diagnosed with CNS tuberculosis. ⋯ Tuberculomas were present in 50% of patients, while infarcts were present in 25%. Old age, TBM grading, presence of infarction and hydrocephalus were all predictors of poor outcome.
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J. Neurol. Neurosurg. Psychiatr. · Nov 2014
Randomized Controlled Trial Multicenter StudyLong-term impact of interferon beta-1b in patients with CIS: 8-year follow-up of BENEFIT.
To examine the long-term impact of early treatment initiation of interferon beta-1b (IFNB1b, Betaferon/Betaseron) in patients with a first event suggestive of multiple sclerosis (MS). ⋯ These 8-year results provide further evidence supporting early initiation of treatment with IFNB1b in patients with a first event suggestive of MS.