CLCN2-related leukoencephalopathy with novel compound heterozygous variants followed with magnetic resonance imaging over 17 years: a case report
This is a detailed report of a patient with adult-onset CC2L who was successfully diagnosed and followed up with head MRI. This report provides new insights into CC2L and highlights its persistent, distinct, and stable characteristics observed in head MRI over one decade and the difficulty in forming a diagnosis without MRI when patients have minimal and common symptoms, such as in the present case.
Authors
- Ken Inoue (ORCID: https://orcid.org/0000-0002-0710-481X)
- Mitsuko Nakashima (ORCID: https://orcid.org/0000-0001-7941-1774)
- Hirotomo Saitsu (ORCID: https://orcid.org/0000-0003-0723-0960)
- Masayuki Ohira (ORCID: https://orcid.org/0000-0002-2754-7212)
- Masaki Takao (ORCID: https://orcid.org/0000-0002-5392-996X)
- Noriko Sato (ORCID: https://orcid.org/0000-0002-9305-7131)
Institutions
- Hamamatsu University School of Medicine (JP)
- National Center of Neurology and Psychiatry (JP)
Publication Details
- Journal
- BMC Neurology
- Published
- 2024-10-23
- DOI
- https://doi.org/10.1186/s12883-024-03919-2
- Citations
- 5
- Primary Topic
- RNA regulation and disease
- Type
- article
- Field-Weighted Citation Impact
- 1.17
Funders
- Takeda Science Foundation
- Japan Agency for Medical Research and Development
- Ministry of Health, Labour and Welfare
- National Center of Neurology and Psychiatry
- Japan Society for the Promotion of Science