Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants in TPP1, The Gene Involved in Classic Late‐Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2 Disease). Issue 5 (11th March 2013) - Sun, Yu
Abstract Exome sequencing revealed TPP1 as the causative gene for autosomal recessive spinocerebellar ataxia type 7 (SCAR7). A missense and a splice site variant in TPP1, cosegregating with the disease, were found in two SCAR7 families. TPP1, encoding the tripeptidyl peptidase 1 enzyme, is known as the causative gene for neuronal ceroid lipofuscinosis disease 2 (CLN2). Our findings now expand the phenotypes related to TPP1 variants to SCAR7.