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Precise template-free correction restores gene function in Tay-Sachs disease while reframing is ineffective.
Mol Ther Nucleic Acids
March 2025
Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G0A4, Canada.
Tay-Sachs disease is a fatal neurodegenerative disorder caused by mutations inactivating the metabolic enzyme HexA. The most common mutation is c.1278insTATC, a tandem 4-bp duplication disrupting expression by frameshift.
View Article and Find Full Text PDFA natural history study of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, or gaucher disease type 2 (RETRIEVE).
Orphanet J Rare Dis
December 2024
Division of Metabolism and Children's Research Center, Reference Center for Inborn Errors of Metabolism, University Children's Hospital of Zurich, University of Zurich, Zurich, Switzerland.
Article Synopsis
- RETRIEVE is a natural history study focused on the survival and disease progression of early-onset GM1, GM2, and type 2 Gaucher disease (GD2).
- The study gathered data from 185 patients retrospectively and 40 patients prospectively, revealing varying median survival rates: GM1 (19 months), GM2 (44 months), and GD2 (14 months).
- The findings noted that hypotonia was widespread among GM1 patients (94.4%), with additional symptoms like strabismus and splenomegaly specifically observed in GD2 patients, confirming known patterns of these rare lysosomal storage disorders.
Gene therapy for the leukodystrophies: From preclinical animal studies to clinical trials.
Neurotherapeutics
July 2024
Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA. Electronic address:
Leukodystrophies are progressive single gene disorders affecting the white matter of the brain. Several gene therapy trials are in progress to address the urgent unmet need for this patient population. We performed a comprehensive literature review of all gene therapy clinical trials listed in www.
View Article and Find Full Text PDFAssessment of the reliability, responsiveness, and meaningfulness of the scale for the assessment and rating of ataxia (SARA) for lysosomal storage disorders.
J Neurol
October 2024
Unité Des Ataxies Cérébelleuses, Service de Neurologie, Médiathèque Jean Jacquy, CHU-Charleroi, 6000, Charleroi, Belgium.
Article Synopsis
- The study evaluated the Scale for the Assessment and Rating of Ataxia (SARA) for its reliability and validity in patients with neurological symptoms from lysosomal storage disorders (LSDs), particularly Niemann-Pick disease type C and GM2 Gangliosidoses.
- Data from three clinical trials involving 122 patients and 703 visits were analyzed, focusing on retest reliability, responsiveness, and identifying meaningful changes in SARA scores through various global impression assessments.
- Results showed high reliability (ICC of 0.95+) and minimal change in SARA scores over time, with patient interviews indicating that a one-point improvement on the SARA scale is clinically significant for patients' everyday lives.
Role of Botulinum Toxin in Treatment of Secondary Dystonia: A Case Series and Overview of Literature.
Toxins (Basel)
June 2024
Division of Movement Disorders, Department of Neurology, University of Louisville School of Medicine, Louisville, KY 40202, USA.
Article Synopsis
- Dystonia can be classified as primary or secondary, with secondary forms linked to brain lesions and often associated with other neurodegenerative or systemic conditions.
- A study was conducted involving 14 patients aged 17 to 36 with secondary dystonia caused by various conditions, treated with botulinum toxin therapy.
- Most patients experienced mild to moderate improvements in their symptoms lasting about eight weeks, suggesting that botulinum toxin can be effective in managing secondary dystonia despite its complex causes.
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