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
Risk factors for congenital hydrocephalus: a nationwide, register-based, cohort study.
To investigate the associations between isolated congenital hydrocephalus (CHC) and maternal characteristics, maternal medical diseases, and medicine intake during pregnancy as well as birth characteristics of the child in a retrospective, register-based, nationwide cohort study. Furthermore, to identify the risk factors unique for isolated CHC as compared to syndromic CHC. ⋯ The higher risk for isolated CHC in first-born children as well as behavioural aspects and comorbidities associated with maternal use of antidepressants, should be the targets for future research. Potential biological pathways by which antidepressants may cause hydrocephalus remain to be elucidated.
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J. Neurol. Neurosurg. Psychiatr. · Nov 2014
Apolipoprotein E ε2 genotype delays onset of dementia with Lewy bodies in a Norwegian cohort.
Results conflict concerning the relevance of APOE alleles on the development of dementia with Lewy bodies (DLB), though they are well established in connection with Alzheimer's disease (AD). The role of APOE alleles in a Norwegian cohort of patients with DLB was therefore examined compared with patients with AD and healthy control individuals. ⋯ The results indicate that APOE ε2, a protective factor in AD, has a clear beneficial effect on the development of DLB also.
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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.