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Combined intrathecal baclofen pump revision to the cervical level and lumbosacral ventral-dorsal rhizotomy for severe medically refractory hypertonia: illustrative cases.
J Neurosurg Case Lessons
January 2025
Department of Neurosurgery, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
Background: Medically refractory hypertonia (MRH) within the pediatric population causes severe disability and is difficult to treat. Neurosurgery for mixed MRH includes intrathecal baclofen (ITB) and lumbosacral ventral-dorsal rhizotomy (VDR). Surgical efficacy limitations can be mitigated by combining the two into a multimodal strategy.
View Article and Find Full Text PDFPreventive Effects of Botulinum Neurotoxin Long-Term Therapy: Comparison of the 'Experienced' Benefits and 'Suspected' Worsening Across Disease Entities.
J Clin Med
January 2025
Department of Neurology, University of Düsseldorf, Moorenstrasse 5, 40225 Düsseldorf, Germany.
Repetitive intramuscular injections of botulinum neurotoxin (BoNT) have become the treatment of choice for a variety of disease entities. But with the onset of BoNT therapy, the natural course of a disease is obscured. Nevertheless, the present study tries to analyze patients' "suspected" course of disease severity under the assumption that no BoNT therapy had been performed and compares that with the "experienced" improvement during BoNT treatment.
View Article and Find Full Text PDFDisco-Interacting Protein 2 Homolog B CGG Repeat Expansion in Siblings with Neurodevelopmental Disability and Progressive Movement Disorder.
Mov Disord
January 2025
British Columbia Children's Hospital Research Institute, Vancouver, British Columbia, Canada.
Background: Trinucleotide repeat expansions are an emerging class of genetic variants associated with various movement disorders. Unbiased genome-wide analyses can reveal novel genotype-phenotype associations and provide a diagnosis for patients and families.
Objective: The aim was to identify the genetic cause of a severe progressive movement disorder phenotype in 2 affected brothers.
An X-Linked Ataxia Syndrome in a Family with Hearing Loss Associated with a Novel Variant in the BCAP31 Gene.
Mov Disord
January 2025
Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.
Objective: Pathogenic variants in B-cell receptor-associated protein (BCAP31) are associated with X-linked, deafness, dystonia and cerebral hypomyelination (DDCH) syndrome. DDCH is congenital and non-progressive, featuring severe intellectual disability (ID), variable dysmorphism, and sometimes associated with shortened survival. BCAP31 encodes one of the most abundant chaperones, with several functions including acting as a negative regulator of endoplasmic reticulum (ER) calcium ion (Ca) concentration.
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