Neuronal Ceroid Lipofuscinoses (aka Batten disease)
Pathogenesis (Lysosomal Storage Disorder)
- Abnormal cellular accumulation of proteins and other substances, so named because the accumulations resembled ceroid and lipofuscin and are classified based on their specific molecular findings.
Clinical
- Onset: Infantile – Adult
- Neurological manifestations: DIFFUSE/VARY. Cognitive Delay, Motor Impairment (including Parkinsonism), Seizures, Vision Loss (Prevalent across variants), Behavioral Changes.
- Survival: Teens to Early Adulthood.
Genetics
- Numerous gene mutations
- Autosomal recessive.
References
- Calvo, Sherri; Collins, Heather; Greenberg, Kathleen, et. al at US National Library of Medicine, Genetics Home Reference. https://ghr.nlm.nih.gov