| Typical Onset | Mean onset around 28 years (range: teens to adulthood) |
| Gene | CLN6 (MIM 606725) |
| Chromosomal Location | 15q23 |
| Inheritance Pattern | Autosomal recessive |
| Protein Function | CLN6 is a transmembrane protein located in the endoplasmic reticulum, involved in lysosomal function and lipid metabolism <sup>[4]</sup> |
| DNAJC5 | Autosomal dominant form |
| CLN6 | Autosomal recessive form |
| GRN (Progranulin) | Some cases of frontotemporal dementia-like presentation |
| CSTB (Cystatin B) | Related to progressive myoclonus epilepsy |
| Neuronal Loss | Progressive death of neurons in the cerebral cortex, cerebellum, and brainstem |
| Lipopigment Accumulation | Storage material composed of ceroid and lipofuscin within lysosomes |
| Atrophy | Cerebral and cerebellar atrophy visible on MRI |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
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