LSDDB

Ceroid Lipofuscinosis type 4 disease

All the CLNs are caused due to autosomal recessive inheritance except this disorder. This is follows an autosomal dominant pattern of inheritance. SV (synaptic vesicle) protein CSPα is a neuroprotective chaperone (Hsc70) which is evolutionarily conserved and prevents neurodegeneration. Gene encoding CSPα is DNAJC5 located at 20q13.33. Therefore mutations in this gene causes accumulation of CSPα localized with prelysosomal markers and ubiquitinated proteins (Imler et al., 2019).

Reference :
Imler, E. et al. (2019) ‘A Drosophila model of neuronal ceroid lipofuscinosis CLN4 reveals a hypermorphic gain of function mechanism’, eLife, 8, p. e46607. doi:10.7554/eLife.46607.