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Homozygous missense variant in causes early-onset neurodegeneration, leukoencephalopathy and autoinflammation.
J Med Genet
January 2025
Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
Biallelic pathogenic variants in cause a fatal autosomal recessive multisystem disorder characterized by recurrent autoinflammation, hypomyelination, progressive neurodegeneration, microcephaly, failure to thrive, liver dysfunction, respiratory chain defects and accumulation of glycogen in skeletal muscle. No missense variants in have been reported to date.We report a 6-year-old boy with microcephaly, global developmental delays, lower limb spasticity with hyperreflexia, epilepsy, abnormal brain MRI, failure to thrive, recurrent fevers and transaminitis.
View Article and Find Full Text PDFBaclofen modulates the immune response after spinal cord injury with locomotor benefits.
Br J Pharmacol
January 2025
Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal.
Background And Purpose: Spinal cord injury (SCI) is a neurological condition that affects motor and sensory functions below the injury site. The consequences of SCI are devastating for the patients, and although significant efforts have been done in the last years, there is no effective therapy. Baclofen has emerged in the last few years as an interesting drug in the SCI field.
View Article and Find Full Text PDFCortical thickness correlated with peripheral inflammatory cytokines in amyotrophic lateral sclerosis.
Front Neurosci
January 2025
Department of Neurology, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China.
Introduction: Amyotrophic lateral sclerosis (ALS) is a rare, devastating neurodegenerative disease that affects upper and lower motor neurons, resulting in muscle atrophy, spasticity, hyperreflexia, and paralysis. Inflammation plays an important role in the development of ALS, and associated with rapid disease progression. Current observational studies indicate the thinning of cortical thickness in patients with ALS is associated with rapid disease progression and cognitive changes.
View Article and Find Full Text PDFRetrospective Cohort Study on the Incidence and Management of Hemiplegic Shoulder Pain in Stroke Inpatients.
Cureus
December 2024
Physical Medicine and Rehabilitation, Centro de Reabilitação do Norte, Vila Nova de Gaia, PRT.
Background: Painful hemiplegic shoulder (PHS) is a prevalent and challenging complication following a stroke and can significantly impair a patient's engagement in rehabilitation, leading to poorer functional outcomes and extended hospital stays. This retrospective cohort study aims to investigate the incidence, etiology, and management of PHS in stroke inpatients, focusing on the effectiveness of various therapeutic interventions.
Methods: We conducted a retrospective analysis of subacute stroke inpatients who developed PHS during rehabilitation at a single center.
[A case of ischemic stroke in a patient with probable CADASIL].
Zh Nevrol Psikhiatr Im S S Korsakova
January 2025
Osh State University, Osh, Kyrgyzstan.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy CADASIL) is a rare inherited disorder in which thickening of the walls of small and medium-sized blood vessels blocks blood flow to the brain. Diagnosis of CADASIL is based on clinical presentation, neuroimaging findings, and genetic predisposition. This disease is uncommon in children; typically, symptoms manifest in individuals between the ages of 20 and 40, though some may exhibit symptoms later in life.
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