A panel of experts representing academic centers, family foundations and pharmaceutical industry came together to formulate a treatment algorithm for infants diagnosed via newborn screening (NBS) with Spinal muscular atrophy (SMA).
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6942550 | PMC |
http://dx.doi.org/10.15844/pedneurbriefs-33-5 | DOI Listing |
BMC Neurol
January 2025
Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University of Munich, Munich, Germany.
Background: Due to improved treatment options, more SMA patients reach childbearing age. Currently, limited data on pregnant SMA patients is available, especially in relation to disease-modifying therapies (DMT). This case report helps to elucidate new approaches for future guidelines in the management of pregnancy and SMA.
View Article and Find Full Text PDFBMC Neurol
January 2025
Faculty of Medicine, Department of Neurology, Al-Quds University, Jerusalem, Palestine.
Background: Vanishing white matter disease (VWMD) is a rare autosomal recessive leukoencephalopathy. It is typified by a gradual loss of white matter in the brain and spinal cord, which results in impairments in vision and hearing, cerebellar ataxia, muscular weakness, stiffness, seizures, and dysarthria cogitative decline. Many reports involve minors.
View Article and Find Full Text PDFBMJ Case Rep
January 2025
Neurosciences, Concord Repatriation General Hospital, Concord West, New South Wales, Australia
Cerebral venous sinus thrombosis is an uncommon sequela of low intracranial pressure, which may result from a lumbar puncture (LP). We describe a case of a patient in their 40s presenting with 48 hours of persistent headache following intrathecal administration of nusinersen for spinal muscular atrophy (SMA) type 3. There were no focal neurological signs or symptoms apart from baseline symmetrical proximal limb weakness attributed to SMA.
View Article and Find Full Text PDFCell Rep
January 2025
Center for Motor Neuron Biology and Disease, Columbia University, New York, NY 10032, USA; Department of Neurology, Columbia University, New York, NY 10032, USA; Department of Pathology and Cell Biology, Columbia University, New York, NY 10032, USA. Electronic address:
Development and maintenance of posture is essential behavior for overground mammalian locomotion. Dopamine and noradrenaline strongly influence locomotion, and their dysregulation initiates the development of motor impairments linked to neurodegenerative disease. However, the precise cellular and circuit mechanisms are not well defined.
View Article and Find Full Text PDFMuscle Nerve
January 2025
Center for Gene Therapy, Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, Ohio, USA.
Background: Nusinersen and risdiplam are U.S. Food and Drug Administration (FDA)-approved treatments for spinal muscular atrophy (SMA).
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