biostudies-literatureFang SYCenter for Intelligent Drug Systems and Smart Bio-devices (IDS2B)National Science and Technology Council, TaiwanBrain Research CenterNational Science and Technology Council158-168https://www.ebi.ac.uk/biostudies/studies/S-EPMC11752091biostudies-literatureUnknown12(1)<h4>Objective</h4>The genetic causes of a significant number of patients with cerebellar ataxia remain unsolved. Variations in the ITM2B gene, typically linked to dominantly inherited dementia, can sometimes present with cerebellar ataxia as an early symptom. This study aims to investigate the role of ITM2B variations in a Taiwanese cohort with unsolved cerebellar ataxia.<h4>Methods</h4>Genetic analysis of ITM2B was performed in 212 unrelated Taiwanese patients with unsolved cerebellar ataxia. Eight short tandem repeat markers flanking ITM2B were genotyped to analyze the associated haplotype. Affected carriers underwent comprehensive clinical evaluations.<h4>Results</h4>A heterozygous ITM2B variant, c.800G>T (p.(Ter267LeuextTer11)), was identified in three patients. Haplotype analysis demoAnnals of clinical and translational neurologyInvestigating ITM2B-associated ataxia in a Taiwanese cerebellar ataxia cohort.PMC11752091113-2634-F-039-001112‐2314‐B‐075‐034‐MY3113‐2634‐F‐039‐001112-2314-B-075-034-MY3Lee YCHsiao CTFang SYLai KLJih KYTsai YSChou CTLiao YCfalseInvestigating ITM2B-associated ataxia in a Taiwanese cerebellar ataxia cohort.<h4>Objective</h4>The genetic causes of a significant number of patients with cerebellar ataxia remain unsolved. Variations in the ITM2B gene, typically linked to dominantly inherited dementia, can sometimes present with cerebellar ataxia as an early symptom. This study aims to investigate the role of ITM2B variations in a Taiwanese cohort with unsolved cerebellar ataxia.<h4>Methods</h4>Genetic analysis of ITM2B was performed in 212 unrelated Taiwanese patients with unsolved cerebellar ataxia. Eight short tandem repeat markers flanking ITM2B were genotyped to analyze the associated haplotype. Affected carriers underwent comprehensive clinical evaluations.<h4>Results</h4>A heterozygous ITM2B variant, c.800G>T (p.(Ter267LeuextTer11)), was identified in three patients. Haplotype analysis demo2025-01-01T00:00:00Z2025 Jan2026-06-02T20:51:05.514Z2025-04-05T11:35:11.946ZS-EPMC117520913962595410.1002/acn3.52265