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Article

SLC52A3-related Brown-Vialetto-Van Laere syndrome: a large cohort from the Arabian Peninsula.

European journal of human genetics : EJHG - 1 Jun 2026

Al Shamsi Bushra, Al Momen Momen, Al Kindy Farah, Al-Kalbani Sami, Al-Futaisi Amna, Al-Awadi Maha, Al Abri Yasir, Al-Thihli Khalid

Abstract excerpt

SLC52A3-related Brown-Vialetto-Van Laere syndrome (BVVL) is a rare neurodegenerative disorder characterized by progressive motor and sensory impairment, with high mortality rate if left untreated. We hereby report the largest cohort with SLC52A3-related BVVL from the Arabian Peninsula. A total of 23 patients, 16 females and 7 males, with genetically confirmed BVVL diagnosis at two tertiary centers from the region...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42056474
DOI: 10.1038/s41431-026-02106-w
PMCID: PMC13247244

Genes

SLC52A3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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