Movement Disorders· 2026Q1
Evaluation of Rare MCOLN1 Variants in a Large Cohort of α‐Synucleinopathies
- 1citations
- Q1SCImago
- 2026year
Short summary
Rare MCOLN1 variants, previously linked to Parkinson's disease, were found in 1.7% of patients with α-synucleinopathies, suggesting MCOLN1's role in a broader range of these neurodegenerative diseases.
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Key points
- Rare MCOLN1 variants were identified in 1.7% of patients with α-synucleinopathies.
- MCOLN1 variants were classified using ACMG/AMP guidelines and in silico prediction tools.
- The findings suggest MCOLN1's involvement in a broader range of α-synucleinopathies.
- Genomic positions were based on GRCh37.
AI-generated from the title and abstract; the full text is not read.
Abstract
Note: Genomic position was based on GRCh37.Variants were classified according to the 2015 American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP) joint consensus guidelines, with P indicating that the variant is pathogenic.Function predictions denote whether the variant is a protein-truncating variant or a missense variant, which is predicted as pathogenic or damaging by at least 5 of 10 in silico prediction tools, with D indicating that the variant is damaging.
The authors' abstract, as published at the source. Movement Disorders, 2026 · DOI ↗
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Field: Neurology (Medicine)
NeurologyMedicine