OMIA:001552-9544 : Neuronal ceroid lipofuscinosis, 12 in Macaca mulatta (Rhesus monkey) |
In other species: dog
Categories: Lysosomal storage disease , Nervous system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 606693 (trait) , 617225 (trait) , 610513 (gene)
Mendelian trait/disorder: yes
Disease-related: yes
Key variant known: no
Cross-species summary: One of several variants of neuronal ceroid lipofuscinosis (NCL) or Batten disease: CLN12; NCL12. In humans also known as "also known as Kufor-Rakeb syndrome, PARK9, and spastic paraplegia78" (Schmutz et al., 2019).
Species-specific description: Sikora et al. (2024) used a viral vector-based approach to disrupt ATP13A2 expression in the brain of macaques which resulted in Parkinson disease / Kufor-Rakeb syndrome related features.
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| ATP13A2 | ATPase cation transporting 13A2 | Macaca mulatta | 1 | NC_041754.1 (207752376..207779544) | ATP13A2 | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:001552-9544: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2024 | Sikora, J., Dovero, S., Kinet, R., Arotcarena, M.L., Bohic, S., Bezard, E., Fernagut, P.O., Dehay, B. : |
| Nigral ATP13A2 depletion induces Parkinson's disease-related neurodegeneration in a pilot study in non-human primates. NPJ Parkinsons Dis 10:141, 2024. Pubmed reference: 39090150. DOI: 10.1038/s41531-024-00757-4. |
Edit History
- Created by Imke Tammen2 on 06 Aug 2024
- Changed by Imke Tammen2 on 06 Aug 2024