Screening, diagnosis and epidemiology of Batten disease

Abstract

Introduction: Batten disease, also called neuronal ceroid lipofuscinosis, describes a heterogeneous group of lysosomal storage disorders that are the most common inherited progressive neurodegenerative disorders in children. The disease is caused by mutations in the neuronal ceroid lipofusinoses (CLN) genes, which are mostly inherited in an autosomal recessive manner.

Areas covered: Screening guidelines and diagnostic tools have been developed for Batten disease, and although improvements have been made to these tools they may not be widely available or accessible. While certain studies have investigated the epidemiology of Batten disease in certain geographic locations, the global prevalence of Batten disease is not well established.

Expert opinion: An international patient registry may provide a mechanism to gather important data on individuals diagnosed with Batten disease and may serve as a resource that could help investigators better understand the epidemiology of the disease.

Keywords::

• Batten disease
• epidemiology
• patient registry
• rare disease

Notes

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