Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Sep 2014
Primary and secondary care attendance, anticonvulsant and antidepressant use and psychiatric contact 5-10 years after diagnosis in 188 patients with psychogenic non-epileptic seizures.
There have been few studies of long-term outcome in psychogenic non-epileptic seizures (PNES), and none of long-term healthcare utilization. ⋯ Surprisingly few of our patients had presented with seizures during the study period. Early reductions in both AED use and healthcare use were sustained long term. Although psychiatric and employment outcomes were less encouraging, some aspects of PNES outcome may be better than previously thought.
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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
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
Case ReportsHeterozygous D90A-SOD1 mutation in a patient with facial onset sensory motor neuronopathy (FOSMN) syndrome: a bridge to amyotrophic lateral sclerosis.
To describe a patient with facial onset sensory motor neuronopathy (FOSMN) syndrome associated with a heterozygous D90A mutation in superoxide dismutase (SOD1) gene. ⋯ FOSMN syndrome has been recently described in patients with slowly progressive bulbar and upper limb amyotrophy. Sensory symptoms, mainly involving the trigeminal territory, typically precede the onset of motor weakness by months or years. The pathogenesis of FOSMN syndrome is unknown and possible immune-mediated mechanisms have been claimed. Our findings support the hypothesis that FOSMN syndrome is a primary degenerative disorder that widens the spectrum of motor neuron diseases.
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J. Neurol. Neurosurg. Psychiatr. · Sep 2014
Rest and other types of tremor in adult-onset primary dystonia.
Knowledge regarding tremor prevalence and phenomenology in patients with adult-onset primary dystonia is limited. Dystonic tremor is presumably under-reported, and we aimed to assess the prevalence and the clinical correlates of tremor in patients with adult-onset primary dystonia. ⋯ Here we show that tremor is a common feature of patients with adult-onset primary dystonia. It may involve different body segments, with the head being the most commonly affected site. Arm tremor is also frequent (postural>kinetic>rest), occurring in up to one-third of cases. There is a suggestion of a stronger tendency for spread of dystonic features in patients with associated tremor. Dystonic tremor is under-reported and this underscores the importance of careful clinical examination when assessing tremulous patients without overt dystonia.