Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Aug 2018
PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease.
Charcot-Marie-Tooth type 2 (CMT2) neuropathy is characterised by a vast clinical and genetic heterogeneity complicating its diagnosis and therapeutic intervention. Identification of molecular signatures that are common to multiple CMT2 subtypes can aid in developing therapeutic strategies and measuring disease outcomes. ⋯ We unveil PFN2 and GAMT as molecular determinants of CMT2 with possible indications of the role of PFN2 in the pathogenesis and disease progression. This is the first study describing biomarkers that can boost the development of therapeutic strategies targeting a wider spectrum of CMT2 patients.
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A preregistered systematic review of poststroke psychosis examining clinical characteristics, prevalence, diagnostic procedures, lesion location, treatments, risk factors and outcome. Neuropsychiatric outcomes following stroke are common and severely impact quality of life. No previous reviews have focused on poststroke psychosis despite clear clinical need. ⋯ Psychosis considerably adds to illness burden of stroke. Delayed onset suggests a window for early intervention. Studies on the safety and efficacy of antipsychotics in this population are urgently needed.
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J. Neurol. Neurosurg. Psychiatr. · Aug 2018
ReviewBeyond motor neurons: expanding the clinical spectrum in Kennedy's disease.
Kennedy's disease, or spinal and bulbar muscular atrophy (SBMA), is an X-linked neuromuscular condition clinically characterised by weakness, atrophy and fasciculations of the limb and bulbar muscles, as a result of lower motor neuron degeneration. The disease is caused by an abnormally expanded triplet repeat expansions in the ubiquitously expressed androgen receptor gene, through mechanisms which are not entirely elucidated. ⋯ The most compelling aspect of these findings is their potential for therapeutic impact: muscle, for example, which is primarily affected in the disease, has been recently shown to represent a valid alternative target for therapy to motor neurons. In this review, we discuss the emerging study of the extra-motor neuron involvement in SBMA, which, besides increasingly pointing towards a multidisciplinary approach for affected patients, deepens our understanding of the pathogenic mechanisms and holds potential for providing new therapeutic targets for this disease.
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J. Neurol. Neurosurg. Psychiatr. · Aug 2018
Multicenter StudyMulticentre, cross-cultural, population-based, case-control study of physical activity as risk factor for amyotrophic lateral sclerosis.
To investigate the association between physical activity (PA) and amyotrophic lateral sclerosis (ALS) in population-based case-control studies in three European countries using a validated and harmonised questionnaire. ⋯ We provide new class I evidence for a positive association between PA and risk of ALS in a large multicentre study using harmonised methodology to objectively quantify PA levels, with some suggestions for population differences.
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J. Neurol. Neurosurg. Psychiatr. · Aug 2018
Randomized Controlled TrialEfficacy of intensive multidisciplinary rehabilitation in Parkinson's disease: a randomised controlled study.
To evaluate whether a 4-week multidisciplinary, aerobic, motor-cognitive and intensive rehabilitation treatment (MIRT) improves the quality of life (QoL) of patients with Parkinson's disease (PD), in the short-term and long-term period. ⋯ NCT02756676: Pre-results.