Clinical Heterogeneity of Neuronal Ceroid Lipofuscinosis Type 13
CLN13 was clinically heterogeneous. Most patients with CLN13 (14/20) did not present with classic KSB (KSB-I). Instead, 6 patients presented with KSB-II, 4 patients presented with KSC (including the present patient), and 3 patients presented with dementia. Our results expand the CLN13 clinical spectrum and emphasize the importance of screening <i>CTSF</i> variants in clinical dementia and movement disorder cohorts.
Authors
- Philip W. Tipton (ORCID: https://orcid.org/0000-0003-4084-2248)
- Dennis W. Dickson (ORCID: https://orcid.org/0000-0001-7189-7917)
- Nikhil B Ghayal (ORCID: https://orcid.org/0009-0001-4398-7939)
- Devin Oglesbee (ORCID: https://orcid.org/0000-0002-7147-5527)
- Dawn Peck (ORCID: https://orcid.org/0000-0003-2783-792X)
- Shanu F. Roemer (ORCID: https://orcid.org/0000-0002-3597-1400)
- Peizhou Jiang (ORCID: https://orcid.org/0000-0002-3761-3068)
- Elizabeth M. Selner
- Neill R. Graff‐Radford (ORCID: https://orcid.org/0000-0001-9847-9096)
- Aya Murakami (ORCID: https://orcid.org/0000-0002-5892-2919)
Institutions
- Kansai Medical University (JP)
- WinnMed (US)
- Mayo Clinic in Arizona (US)
- Mayo Clinic in Florida (US)
Publication Details
- Journal
- Neurology Genetics
- Published
- 2024-12-23
- DOI
- https://doi.org/10.1212/nxg.0000000000200227
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00