E-mail

E-mail a Wiley Online Library Link

Yu Sun, Rowida Almomani, Guido J. Breedveld, Gijs W.E. Santen, Emmelien Aten, Dirk J. Lefeber, Jorrit I. Hoff, Esther Brusse, Frans W. Verheijen, Rob M. Verdijk, Marjolein Kriek, Ben Oostra, Martijn H. Breuning, Monique Losekoot, Johan T. den Dunnen, Bart P. van de Warrenburg and Anneke J.A. Maat-Kievit 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) Human Mutation 34

Version of Record online: 11 MAR 2013 | DOI: 10.1002/humu.22292

Thumbnail image of graphical 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.

Complete the form below and we will send an e-mail message containing a link to the selected article on your behalf

Required = Required Field

SEARCH