Investigating <i>ITM2B</i>‐associated ataxia in a Taiwanese cerebellar ataxia cohort
ITM2B mutations accounted for 1.4% of cerebellar ataxia cases in the Taiwanese cohort, with patients carrying ITM2B c.800G>T descending from a common ancestor. This study underscores the importance of considering ITM2B variations as a potential cause of cerebellar ataxia, even in the absence of dementia at the initial presentation.
Authors
- Yi‐Chu Liao (ORCID: https://orcid.org/0000-0002-9644-2086)
- Kuan‐Lin Lai (ORCID: https://orcid.org/0000-0002-2436-6555)
- Kang‐Yang Jih (ORCID: https://orcid.org/0000-0001-9057-0215)
- Cheng‐Ta Chou (ORCID: https://orcid.org/0000-0003-2930-7279)
- Yi‐Chung Lee (ORCID: https://orcid.org/0000-0003-0102-164X)
- Yieh‐Loong Tsai
- Shih‐Yu Fang
- Cheng‐Tsung Hsiao
Institutions
- National Yang Ming Chiao Tung University (TW)
- Taipei Veterans General Hospital (TW)
- Taichung Veterans General Hospital (TW)
Publication Details
- Journal
- Annals of Clinical and Translational Neurology
- Published
- 2024-12-03
- DOI
- https://doi.org/10.1002/acn3.52265
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Shanghai Educational Development Foundation
- National Science and Technology Council