Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Aug 2019
Development of MRC Centre MRI calf muscle fat fraction protocol as a sensitive outcome measure in Hereditary Sensory Neuropathy Type 1.
Hereditary sensory neuropathy type 1 (HSN1) is a rare, slowly progressive neuropathy causing profound sensory deficits and often severe motor loss. L-serine supplementation is a possible candidate therapy but the lack of responsive outcome measures is a barrier for undertaking clinical trials in HSN1. We performed a 12-month natural history study to characterise the phenotype of HSN1 and to identify responsive outcome measures. ⋯ MRI determined calf muscle fat fraction shows validity and high responsiveness over 12 months and will be useful in HSN1 clinical trials.
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J. Neurol. Neurosurg. Psychiatr. · Aug 2019
Misfolded SOD1 inclusions in patients with mutations in C9orf72 and other ALS/FTD-associated genes.
A hallmark of amyotrophic lateral sclerosis (ALS) caused by mutations in superoxide dismutase-1 (SOD1) are inclusions containing SOD1 in motor neurons. Here, we searched for SOD1-positive inclusions in 29 patients carrying ALS-linked mutations in six other genes. ⋯ Abundant inclusions containing misfolded SOD1WT are found in spinal and cortical motor neurons in patients carrying mutations in six ALS-causing genes other than SOD1. This suggests that misfolding of SOD1WT can be part of a common downstream event that may be pathogenic. The new anti-SOD1 therapeutics in development may have applications for a broader range of patients.
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J. Neurol. Neurosurg. Psychiatr. · Aug 2019
Cannabis use is both independently associated with and mediates worse psychosocial health in patients with epilepsy.
To examine whether cannabis use is associated with or mediates psychosocial health in people with epilepsy. ⋯ There is a strong and independent association between cannabis use and poor psychosocial health, and it partially mediates the deleterious effect of a psychiatric history on these same outcomes. Inclusion of PROMs in future cannabis trials is warranted.