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Serum metabolomic signatures of patients with rare neurogenetic diseases: an insight into potential biomarkers and treatment targets.
Front Mol Neurosci
January 2025
Interdisciplinary Centre for Innovations in Biotechnology and Neuroscience, Faculty of Medical Sciences, University of Sri Jayewardenepura, Nugegoda, Sri Lanka.
Introduction: To further advance our understanding of Muscular Dystrophies (MDs) and Spinocerebellar Ataxias (SCAs), it is necessary to identify the biological patterns associated with disease pathology. Although progress has been made in the fields of genetics and transcriptomics, there is a need for proteomics and metabolomics studies. The present study aimed to be the first to document serum metabolic signatures of MDs (DMD, BMD, and LGMD 2A) SCAs (SCA 1-3), from a South Asian perspective.
View Article and Find Full Text PDFGenetic Homogeneity of a TDP1 Variant, c.1478A>G, as the Main Disease-Causing Variant of Spinocerebellar Ataxia With Axonal Neuropathy 1 (SCAN1) in the Middle East: A Systematic Review.
Pediatr Neurol
December 2024
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran; Neuromuscular Research Center, Tehran University of Medical Sciences, Tehran, Iran. Electronic address:
Article Synopsis
- SCAN1 is an ultrarare neurodegenerative disorder characterized by progressive ataxia and axonal polyneuropathy, primarily caused by a mutation in the TDP1 gene.
- The study presents the first Iranian family diagnosed with SCAN1 carrying the c.1478A>G variant and includes a systematic review that identifies additional disease-related variants in TDP1 across different families.
- Findings indicate that despite sharing the same genetic variant, affected families exhibit clinical variability, suggesting a potential founder mutation in the Middle East and highlighting the need for further research into SCAN1.
Multi-omic insights into molecular mechanism and therapeutic targets in spinocerebellar ataxia type 7.
Mol Ther Nucleic Acids
March 2025
Department of Neurology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul 03080, Republic of Korea.
Recent advances in molecular science have significantly enlightened our mechanistic understanding of spinocerebellar ataxia type 7. To further close remaining gaps, we performed a multi-omics analysis using SCA7 mice. Entire brain tissue samples were collected from 12-week-old mice, and RNA sequencing, methylation analysis, and proteomic analysis were performed.
View Article and Find Full Text PDFContent Validity of the Friedreich Ataxia Rating Scale in Patients with Spinocerebellar Ataxia.
Neurol Ther
January 2025
Biohaven Pharmaceuticals, Inc., 215 Church Street, New Haven, CT, 06510, USA.
Introduction: The Friedreich Ataxia Rating Scale-Activities of Daily Living (FARS-ADL) is a validated and highly utilized measure for evaluating patients with Friedreich Ataxia. While construct validity of FARS-ADL has been shown for spinocerebellar ataxia (SCA), content validity has not been established.
Methods: Individuals with SCA1 or SCA3 (n = 7) and healthcare professionals (HCPs) with SCA expertise (n = 8) participated in qualitative interviews evaluating the relevance, clarity, and clinical meaningfulness of FARS-ADL for assessment of individuals with SCA.
Modeling sacsin depletion in Danio Rerio offers new insight on retinal defects in ARSACS.
Neurobiol Dis
February 2025
Neurobiology and Molecular Medicine Unit, IRCCS Fondazione Stella Maris, 56128 Pisa, Italy. Electronic address:
Biallelic mutations in the SACS gene, encoding sacsin, cause early-onset autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a neurodegenerative disease also characterized by unique and poorly understood retinal abnormalities. While two murine models replicate the phenotypic and neuronal features observed in patients, no retinal phenotype has been described so far. In a zebrafish knock-out strain that faithfully mirrors the main aspects of ARSACS, we observed impaired visual function due to photoreceptor degeneration, likely caused by cell cycle defects in progenitor cells.
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