European journal of neurology : the official journal of the European Federation of Neurological Societies
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The autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset neurodegenerative disorder caused by mutations in the SACS gene. The disease, first described in Canadian families from Québec, is characterized by cerebellar ataxia, pyramidal tract involvement and peripheral neuropathy. ⋯ Our findings further enlarge the genetic spectrum of SACS mutations and widen the study of clinical phenotype. MRI characteristics indicate that pontine changes and supratentorial abnormalities are diagnostic. The over-representation of TPF on DTI suggests a developmental component in the pathogenesis of the disease.
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Screening batteries to narrow down a target-at-risk population are essential for trials testing neuroprotective compounds aiming to delay or prevent onset of Parkinson's disease (PD). ⋯ With this approach, one out of 16 positively screened participants developed PD compared to one out of 135 in the original cohort. This corresponds to a sensitivity of 80.0%, a specificity of 90.6% and a positive predictive value of 6.1%. These values are higher than for any single screening instrument but still too low for a feasible and cost-effective screening strategy which might require longer follow-up intervals and application of additional instruments.
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More evidence is needed to forward our understanding of the key determinants of poor outcome after mild traumatic brain injury (MTBI). A large, prospective, national cohort of patients was studied to analyse the effect of head CT scan pathology on the outcome. ⋯ Pathology on acute CT scan examination had no effect on self-reported symptoms or global function at 3 months after MTBI. Female gender and older age predicted a less favourable outcome. The findings support the view that other factors than brain injury deserve attention to minimize long-term complaints after MTBI.
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To evaluate the incidence and predictors of ischaemic recurrent stroke and the adverse events of antithrombotic therapy in patients with first intra- or extracranial vertebral artery dissection (VAD) who were treated with aspirin or oral anticoagulation (OA). ⋯ Although this was a non-randomized study, our data suggest that the frequency of recurrent ischaemic stroke in patients with intra- or extracranial VAD is low and most likely independent of the type of antithrombotic treatment.
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Migraine is the most important cause of headache leading to a decrease in the quality of life in children and adolescents. The prevalence of episodic (EM) and chronic migraine (CM) increases with increasing age, which especially focused in recent years. ⋯ Our results showed that CM is an important cause of headache in both children and adolescents with some defining headache characteristics and risk factors concentrated in different age-groups.