A novel c.1468 G > A GRN mutation causes frontotemporal dementia in a Chinese Han family
We firstly reported a novel mutation in the GRN gene at codon 490 (V490M) in exon 12 in a China FTD family. The CSF biomarker alterations of the proband revealed a reduction in Aβ42 and the Aβ42/Aβ40 ratio. The analysis of mutation might support the role of GRN in patients with FTD and contribute to the discovery of a new pathological mechanism underlying the disease.
Authors
- Mingrong Xia
- Aram Yang
- Chenhao Gao (ORCID: https://orcid.org/0000-0001-7958-5379)
- Weizhou Zang
- Junkui Shang (ORCID: https://orcid.org/0000-0001-5160-315X)
- Dan Li (ORCID: https://orcid.org/0000-0003-1596-8033)
- Jiewen Zhang (ORCID: https://orcid.org/0000-0002-2362-6300)
Institutions
- Zhengzhou University (CN)
- Henan Provincial People's Hospital (CN)
Publication Details
- Journal
- European journal of medical research
- Published
- 2025-03-08
- DOI
- https://doi.org/10.1186/s40001-025-02418-5
- Primary Topic
- Amyotrophic Lateral Sclerosis Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China