Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Apr 2016
Review Meta AnalysisSun exposure is an environmental factor for the development of blepharospasm.
Adult-onset isolated focal dystonia may present with various phenotypes including blepharospasm and cervical dystonia. Although inherited in an autosomal dominant manner with a markedly reduced penetrance, environmental factors are considered important in disease penetrance and expression. We observed a marked variation by latitude in the reports of the frequency of patients with blepharospasm relative to those with cervical dystonia; we hypothesised that sun exposure is an environmental risk factor for the development of blepharospasm in genetically susceptible individuals. ⋯ The increase in the blepharospasm: cervical dystonia case ratio with decreasing latitude and increasing insolation suggests that sunlight exposure is an environmental risk factor for the development of blepharospasm (rather than cervical dystonia) in individuals genetically susceptible to adult-onset dystonia.
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J. Neurol. Neurosurg. Psychiatr. · Apr 2016
Review Meta AnalysisIntermittent head drops: the differential spectrum.
Intermittent Head Drops are episodic head flexion movements that can occur in a number of conditions. Typically, the term has mainly been related to epileptic episodes, but the spectrum of clinical conditions associated with this feature is wide-ranging even if never discussed in detail. By searching the electronic database, we may find that apart from the epileptic conditions, Intermittent Head Drops have been in fact reported in the setting of movement disorders, sleep disorders and even internal medicine disorders, such as Sandifer syndrome. We render an in-depth description of this characteristic phenomenon in different diseases, describing the clinical clues and neurophysiological patterns that may help the clinician to distinguish between the different settings of occurrence.
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J. Neurol. Neurosurg. Psychiatr. · Apr 2016
ReviewSudden unexpected death in epilepsy: basic mechanisms and clinical implications for prevention.
Sudden unexpected death in epilepsy (SUDEP) is the most common cause of death in patients with intractable epilepsy. The substantial lifetime risk of SUDEP and the lack of a clear pathophysiological connection between epilepsy itself and sudden death have fuelled increased attention to this phenomenon. ⋯ We integrate these data to suggest the most probable mechanisms underlying SUDEP. Understanding the modifiable risk factors and pathophysiology allows us to discuss potential preventative strategies.
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J. Neurol. Neurosurg. Psychiatr. · Apr 2016
Vestibular vertigo and comorbid cognitive and psychiatric impairment: the 2008 National Health Interview Survey.
Patients with vestibular disease have been observed to have concomitant cognitive and psychiatric dysfunction. We evaluated the association between vestibular vertigo, cognitive impairment and psychiatric conditions in a nationally representative sample of US adults. ⋯ Our findings indicate that vestibular impairment is associated with increased risk of cognitive and psychiatric comorbidity. The vestibular system is anatomically connected with widespread regions of the cerebral cortex, hippocampus and amygdala. Loss of vestibular inputs may lead to impairment of these cognitive and affective circuits. Further longitudinal research is required to determine if these associations are causal.
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J. Neurol. Neurosurg. Psychiatr. · Apr 2016
Seropositivity for NT5c1A antibody in sporadic inclusion body myositis predicts more severe motor, bulbar and respiratory involvement.
To explore phenotypic differences between individuals with sporadic inclusion body myositis (sIBM) who are seropositive for the NT5c1A antibody compared with those who are seronegative. ⋯ Even though the small sample size limits definite conclusions, our cross-sectional study showed seropositivity to the NT5c1A antibody is associated with greater motor and functional disability in sIBM. The study also suggests more prominent bulbar, facial and respiratory involvement in individuals positive for NT5c1A antibodies.