Neuronal ceroid lipofuscinoses. Biochim Biophys Acta 2009;1793:697-709.
Tandem mass spectrometry assays Of palmitoyl protein thioesterase 1 and tripeptidyl peptidase activity in dried blood spots for the detection of neuronal ceroid lipofuscinoses in newborns.
Neuronal ceroid lipofuscinoses constitute a group of at least eight inherited, progressive encephalopathies that are characterized by lipofuscin-like inclusions in various tissues and that have recently been classified as CLN1 to CLN8 according to their genetic defects (1).
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.
Neuronal ceroid lipofuscinoses
(NCLs) are a group of genetically transmitted neurodegenerative disorders characterized clinically by intellectual and motor decline, visual loss, and myoclonic seizures, in most cases preceded by a variable period of apparently normal development.
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.