true

* A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluorescent wax-like lipid materials ( CEROID; LIPOFUSCIN) in neurons. There are several subtypes based on mutations of the various genes, time of disease onset, and severity of the neurological defects such as progressive DEMENTIA; SEIZURES; and visual failure (MeSH). * Batten disease is a fatal, inherited disorder of the nervous system that begins in childhood. In some cases, the early signs are subtle, taking the form of personality and behavior changes, slow learning, clumsiness, or stumbling. Symptoms of Batten disease are linked to a buildup of substances called lipopigments in the body's tissues. Lipopigments are made up of fats and proteins. Because vision loss is often an early sign, Batten disease may be first suspected during an eye exam. Often, an eye specialist or other physician may refer the child to a neurologist. Diagnostic tests for Batten disease include blood or urine tests, skin or tissue sampling, an electroencephalogram (EEG), electrical studies of the eyes, and brain scans (NINDS Disease page).

umlsCUI:C0751383|meshUID:D009472

Neuronal Ceroid Lipofuscinosis

2008-01-18

Neuronal Ceroid Lipofuscinosis

birnlex_12831

Neuronal Ceroid Lipofuscinosis

false

Batten Disease|Spielmeyer-Vogt Disease|Batten-Spielmeyer-Vogt Disease|Batten-Mayou Disease