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Neuronal Ceroid Lipofuscinoses

Background

The neuronal ceroid lipofuscinoses (NCLs), also known as Batten disease, are a group of neurodegenerative disorders. They are considered the most common of the neurogenetic storage diseases, with a prevalence of 1 in 12,500 in some populations. NCLs are associated with variable, yet progressive, symptoms, including seizures, dementia, visual loss, and/or cerebral atrophy. Prenatal diagnosis may be possible in a family with an affected child, depending upon the NCL subtype. (See Epidemiology and Presentation.)

NCL was later so named because of the accumulation of autofluorescent lipopigments resembling ceroid and lipofuscin seen in patients with the condition. Although NCLs are generally autosomal recessive disorders, in 1971 Boehme described autosomal dominant inheritance of the same disease in the Parry family of New Jersey. The enzymatic abnormalities were better defined in the 1980s, and the molecular genetics have now being described in some variants of NCL. A database of NCL mutations is maintained. (See Etiology.)

Classification

The neuronal ceroid lipofuscinoses (NCLs) originally were defined by their age of onset and clinical symptoms. However, they have since been reclassified on the basis of newer molecular findings, which have provided evidence of far more overlap for the different genetic variants than had previously been suggested by the clinical phenotypes.
(See Etiology and Presentation.)

Mortality

Patients with NCL have shortened life expectancy. The impact of NCL on life span clearly depends on the type of NCL that a patient has.

Patient education

Genetic counseling is essential in the presence of NCL. Families may be referred to a number of support and research groups in the United States, including the following (see Treatment):

Batten Disease Support and Research Association: 1-800-448-4570 or www.bdsra.org.

Children’s Brain Disease Foundation: 1-415-665-3003

Institute for Basic Research in Developmental Disabilities: 1-718-494-0600 or 1-718-494-5117

The National Institute of Neurologic Disorders and Stroke at the National Institutes of Health (NIH)

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