neuronal ceroid lipofuscinoses

neuronal ceroid lipofuscinoses

A group of rare autosomal recessive neurodegenerative disorders characterized by the abnormal accumulation of the pigmented material LIPOFUSCIN in tissues. The group forms the commonest neurodegenerative disorder of childhood. There is progressive destruction of retinal cell function with visual loss and deterioration of general brain function. The disease may start in early infancy, childhood or in adult life. In the latter case vision is retained but there is slow progressive dementia.
References in periodicals archive ?
The neuronal ceroid lipofuscinoses in human EPMR and rand mutant mice are associated with mutations in CLN8.
In conclusion, this new method allows the rapid and accurate determination of PPT1 and TPP1 activities from dried blood samples and a clear differentiation between healthy individuals, patients with neuronal ceroid lipofuscinoses (CLN1 and CLN2), and heterozygous carriers.
The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8.
The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative diseases that include infantile NCL (INCL; OMIM 256730, where the defective gene is CLN1), classical late infantile NCL (LINCL; OMIM 204500, where the defective gene is CLN2), two variant late infantile NCLs (OMIM 256731, where the defective gene is CLN5; and OMIM 601780, where the defective gene is CLN6), juvenile NCL (JNCL; OMIM 204200; defective gene, CLN3), a juvenile onset epilepsy with progressive mental retardation (EPMR; OMIM 600143; defective gene, CLN8), and adult NCL (Kufs disease; OMIM 204300; defective gene, CLN4) [reviewed in Ref.
Assuming approval, the trial will investigate the safety of transplanting the Company's patented human neural stem cells (HuCNS-SC) in neuronal ceroid lipofuscinoses patients, and determine if the transplanted cells secrete the missing lysosomal enzymes in the brain and alter some characteristics and clinical course of the disease.

Full browser ?