Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Sep 2014
Case ReportsAutosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation.
Autosomal-recessive hereditary spastic paraplegias (AR-HSP) consist of a genetically diverse group of neurodegenerative diseases characterised by pyramidal tracts dysfunction. The causative genes for many types of AR-HSP remain elusive. We tried to identify the gene mutation for AR-HSP with cerebellar ataxia and neuropathy. ⋯ We diagnosed these patients as having adult CHS presenting spastic paraplegia with cerebellar ataxia and neuropathy. The clinical spectrum of CHS is broader than previously recognised. Adult CHS must be considered in the differential diagnosis of AR-HSP.
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J. Neurol. Neurosurg. Psychiatr. · Sep 2014
Marked olfactory impairment in idiopathic intracranial hypertension.
Many long-duration astronauts develop signs of elevated intracranial pressure and have neuro-ophthalmological findings similar to idiopathic intracranial hypertension (IIH) patients. Some also present with nasal congestion and subjective olfactory impairment. We prospectively evaluated olfactory function in IIH patients and the effect of 6° head-down tilt, which simulates the headward fluid shifting in microgravity, as spaceflight analogues. ⋯ We demonstrated that IIH patients have marked impairment in olfactory threshold levels, out of proportion to smell identification impairment. There was also impairment in olfactory threshold in head-down tilt compared with upright positioning, but not for smell identification. The underlying mechanisms for olfactory threshold dysfunction in IIH patients need further exploration.
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J. Neurol. Neurosurg. Psychiatr. · Sep 2014
Practice GuidelineConsensus on guidelines for stereotactic neurosurgery for psychiatric disorders.
For patients with psychiatric illnesses remaining refractory to 'standard' therapies, neurosurgical procedures may be considered. Guidelines for safe and ethical conduct of such procedures have previously and independently been proposed by various local and regional expert groups. ⋯ This consensus document on ethical and scientific conduct of psychiatric surgery worldwide is designed to enhance patient safety.
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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.