Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Sep 2014
Case ReportsWhole-genome sequencing and the clinician: a tale of two cities.
Clinicians are faced with unprecedented opportunities to identify the genetic aetiologies of hitherto molecularly uncharacterised conditions via the use of high-throughput sequencing. Access to genomic technology and resultant data is no longer limited to clinicians, geneticists and bioinformaticians, however; ongoing commercialisation gives patients themselves ever greater access to sequencing services. We report an increasingly common medical scenario by describing two neuromuscular patients--a mother and adult son--whose consumer access to whole-genome sequencing affected their diagnostic journey. ⋯ This report highlights the essential interplay of clinical and genomic expertise in realising the potential of high-throughput sequencing. In an era when patients themselves may bring their own data to the table, definitively identifying clinically significant genomic variants will require close collaboration among clinicians, geneticists and bioinformaticians.
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J. Neurol. Neurosurg. Psychiatr. · Sep 2014
Malformation risks of antiepileptic drug monotherapies in pregnancy: updated results from the UK and Ireland Epilepsy and Pregnancy Registers.
Antiepileptic drug (AED) exposure during pregnancy increases the risk of major congenital malformations (MCMs). The magnitude of this risk varies by AED exposure. Here we provide updated results from the UK Epilepsy and Pregnancy Register of the risk of MCMs after monotherapy exposure to valproate, carbamazepine and lamotrigine. ⋯ In utero exposure to valproate carries a significantly higher MCM risk than lamotrigine (p=0.0001) and carbamazepine (p=0.0001) monotherapy. In contrast to prior findings, high-dose lamotrigine was associated with fewer MCMs than all doses of valproate. While lamotrigine has a favourable profile compared with valproate for adverse pregnancy outcomes, the requirements for seizure control should not be overlooked.
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J. Neurol. Neurosurg. Psychiatr. · Sep 2014
Basilar extension and posterior inferior cerebellar artery involvement as risk factors for progression of the unruptured spontaneous intradural vertebral artery dissection.
Spontaneous intradural vertebral artery dissection (siVAD) primarily causes stroke in young and middle-aged individuals; however, data on the relationship between vertebrobasilar morphology and the progression of siVAD are limited. ⋯ Thus, some vertebrobasilar morphologies might be markers of the progression of unruptured siVAD. Although all unruptured siVAD patients should be closely monitored, those with basilar extension and posterior inferior cerebellar artery involvement should perhaps be more carefully followed than those without such morphologies.
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J. Neurol. Neurosurg. Psychiatr. · Sep 2014
Altered body schema processing in frontotemporal dementia with C9ORF72 mutations.
Mutations in C9ORF72 are an important cause of frontotemporal dementia (FTD) and motor neuron disease. Accumulating evidence suggests that FTD associated with C9ORF72 mutations (C9ORF72-FTD) is distinguished clinically by early prominent neuropsychiatric features that might collectively reflect deranged body schema processing. However, the pathophysiology of C9ORF72-FTD has not been elucidated. ⋯ Altered body schema processing is a novel, generic pathophysiological mechanism that may link the distributed cortico-subcortical network previously implicated in C9ORF72-FTD with a wide range of neuropsychiatric and behavioural symptoms, and constitute a physiological marker of this neurodegenerative proteinopathy.
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J. Neurol. Neurosurg. Psychiatr. · Sep 2014
Abnormal inflammatory activity returns after natalizumab cessation in multiple sclerosis.
To characterise recurrence of multiple sclerosis (MS) inflammatory activity during the year following natalizumab (NTZ) cessation. ⋯ This study identifies rebound after NTZ cessation as an association of relapses and high MRI activity.