Pseudo-dominant inheritance of a novel <i>CTSF</i> mutation associated with type B Kufs disease

Abstract

Neuronal ceroid lipofuscinosis (NCL) has different forms, of which Kufs disease (KD) is the least frequent and the most difficult to diagnose.1 KD can, in turn, be divided into type A, characterized by progressive myoclonus epilepsy and cognitive decline, and type B, characterized by movement and behavioral abnormalities and dementia.2 Mutations in CLN6 and DNAJC5 are responsible for, respectively, the autosomal recessive (AR) (MIM 204300) and autosomal dominant (MIM 162350) forms of type A KD.3 Mutations in cathepsin F ( CTSF ) have recently been discovered in AR type B KD families of French-Canadian, Australian, and Italian origin.4 Acknowledgment: The authors thank Rosanna Trovato and Floriana Gismondi for technical assistance and Dr. Catherine J. Wrenn for editorial assistance.