Progressive myoclonic ataxia as an initial symptom of typical type I sialidosis with <scp><i>NEU1</i></scp> mutation
ST-1 should be suspected in patients with PMA or ataxia in Southeast China, even without macular cherry-red spots and seizures, and the premier test could be a variant screening of the founder variant NEU1 c.544A>G.
Authors
- Junyi Jiang (ORCID: https://orcid.org/0000-0002-4080-069X)
- Kang Yang (ORCID: https://orcid.org/0000-0002-9542-5698)
- Chen Ru-kai (ORCID: https://orcid.org/0009-0001-0674-1032)
- Ru‐Ying Yuan (ORCID: https://orcid.org/0000-0001-8438-1899)
- Yi‐Kun Chen (ORCID: https://orcid.org/0000-0002-7518-5287)
- Yi‐Heng Zeng (ORCID: https://orcid.org/0000-0003-2020-752X)
- Y. Zhang (ORCID: https://orcid.org/0000-0003-3484-0078)
- Wan‐Jin Chen (ORCID: https://orcid.org/0000-0002-9472-8494)
- Naiqing Cai (ORCID: https://orcid.org/0000-0002-5501-2565)
- Yun‐Lu Li
- Ning Wang (ORCID: https://orcid.org/0000-0002-9655-9735)
- Xiang‐Ping Yao
- Rui‐Huang Zeng
- Boli Chen (ORCID: https://orcid.org/0009-0000-0910-0989)
- Jingjing Lin (ORCID: https://orcid.org/0000-0002-1890-4871)
- Hui‐Zhen Su
Institutions
- Fujian Medical University (CN)
- First Affiliated Hospital of Fujian Medical University (CN)
Publication Details
- Journal
- Annals of Clinical and Translational Neurology
- Published
- 2024-10-31
- DOI
- https://doi.org/10.1002/acn3.52212
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China
- Natural Science Foundation of Fujian Province
- Fujian Medical University
- National Key Research and Development Program of China