Article
Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis.
Molecular genetics and metabolism - 1 Sept 2016
Fietz Michael, AlSayed Moeenaldeen, Burke Derek, Cohen-Pfeffer Jessica, Cooper Jonathan D, Dvořáková Lenka, Giugliani Roberto, Izzo Emanuela, Jahnová Helena, Lukacs Zoltan, Mole Sara E, Noher de Halac Ines, Pearce David A, Poupetova Helena, Schulz Angela, Specchio Nicola, Xin Winnie, Miller Nicole
Abstract excerpt
Neuronal ceroid lipofuscinoses (NCLs) are a heterogeneous group of lysosomal storage disorders. NCLs include the rare autosomal recessive neurodegenerative disorder neuronal ceroid lipofuscinosis type 2 (CLN2) disease, caused by mutations in the tripeptidyl peptidase 1 (TPP1)/CLN2 gene and the resulting TPP1 enzyme deficiency. CLN2 disease most commonly presents with seizures and/or ataxia in the late-infantile...
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