Also known as: Spielmeyer-Vogt, Batten Disease

Metabolic defect: CLN3 protein (“Battenin”): function unknown or deficiency of palmitoyl-protein thioesterase 1 (PPT1) Other cholesterol degradation/transport diseases: neuronal ceroid lipofuscinosis: type I, type II, type IV

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Progressive accumulation of lipofuscins (lipopigments) in cells of the brain and other tissues. Atrophy of both grey and white matter with accumulation in both neural and non-neural elements. May be a metabolic disorder involving the intracellular processing and turnover of lysosomes and their membranes as lipopigments accumulate in lysosomes and dolichol levels are elevated (an important constituent of lysosomal membranes).

Ataxia/choreoathetoid movements				Retinal dystrophy, typically central at first and rapid

Image Credits: Retinitis pigmentosa courtesy of John A. Moran Eye Center, University of Utah.

Juvenile is the most common form of NCL.^[1] With the juvenile form:

Onset is from 4 to 10 years

Rapidly progressing visual loss is the first clinical sign

Life expectancy is late teens to 30s^[1]

Inheritance pattern:^[2] autosomal recessive

Incidence: 1 in 25,000 (for types I, II, III, and IV together)^[1]

Diagnosis: electron microscopy to investigate storage materials; enzyme assay; mutation analysis; prenatal diagnosis available ^[1]

Conditions with similar presentations:^[3] retinitis pigmentosa, Bardet-Biedl syndrome, Joubert syndrome, juvenile nephronophthisis, Alstrom syndrome

Management: no disease-specific treatment available

Other medical care: symptom management

Initial:

Loss of central vision over just a few months

Initial:

Intellectual deterioration with decline in school performance

Later:

Deterioration of motor abilities

Non-ambulatory by 13-18 years of age

Cerebellar ataxia may be mild and present late

Occasional myoclonic seizures (difficult to control)

Stuttering dysarthria

Marked rigidity may present late

Generalized tonic-clonic seizures, complex partial seizures

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1. www.pitt.edu/AFShome/g/e/geneorb/public/html/courses/lyso_trials/ncl.html Accessed July 2004.

2. www.ninds.nih.gov/health_and_medical/pubs/batten_disease.htm Accessed July 2004.

3. Wisniewski, Krystyna E. MD, Ph.D. “Neuronal Ceroid-Lipofuscinoses.” www.genetests.org. Updated 27 January 2004. Accessed August 2004.