Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Jul 2017
Psychiatric associations of adult-onset focal dystonia phenotypes.
Depression and anxiety frequently accompany the motor manifestations of isolated adult-onset focal dystonias. Whether the body region affected when this type of dystonia first presents is associated with the severity of these neuropsychiatric symptoms is unknown. ⋯ Anxiety and social anxiety severity vary by onset site of focal dystonia, and this variation is not explained by differences in pain and dystonia severity.
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J. Neurol. Neurosurg. Psychiatr. · Jul 2017
Exploring the fitness hypothesis in ALS: a population-based case-control study of parental cause of death and lifespan.
To investigate the theory of premorbid fitness in amyotrophic lateral sclerosis (ALS), we studied whether a common genetic profile for physical or cardiovascular fitness was manifest in progenitors leading to less cardiovascular death and a longer lifespan in parents of patients with ALS compared with parents of controls. ⋯ Exploring the fitness hypothesis in the pathogenesis of ALS, our findings provide evidence for a shared mechanism underlying a favourable cardiovascular fitness profile and ALS susceptibility.
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J. Neurol. Neurosurg. Psychiatr. · Jul 2017
Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.
To analyse and describe the clinical and genetic spectrum of Charcot-Marie-Tooth disease (CMT) caused by mutations in the neurofilament light polypeptide gene (NEFL). ⋯ NEFL-related CMT is clinically and genetically heterogeneous. Based on this study, however, we propose mutational hotspots and relevant clinical-genetic associations that may be helpful in the evaluation of NEFL sequence variants and the differential diagnosis with other forms of CMT.
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J. Neurol. Neurosurg. Psychiatr. · Jul 2017
Letter Randomized Controlled TrialPeduncolopontine nucleus stimulation in progressive supranuclear palsy: a randomised trial.