LINCLLate Infantile Neuronal Ceroid Lipofuscinosis
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Additionally, LINCL is caused by mutations in the Cln2 gene that leads to the deficiency and/or loss of function of Tripeptidyl Peptidase 1 (TPP1) that leads to accumulation of autofluorescent storage materials in neurons and in other cells.
However, to date the TPP-I assay has been applied only to cultured fibroblasts, with the TPP-I activity of LINCL fibroblasts being ~5% of healthy controls (10).
8)], all 51 specimens analyzed (representing leukocytes, cultured cells, or brain autopsy specimens from 46 different LINCL families) could easily be discriminated from carriers and controls.
All 80 samples from healthy controls, LINCL carriers, and patients with other neurological diseases had robust activity.
Biochemical characterization of a lysosomal protease deficient in classical late infantile neuronal ceroid lipofuscinosis (LINCL) and development of an enzyme-based assay for diagnosis and exclusion of LINCL in human specimens and animal models.