Also known as: Jansky-Bielschowsky Disease

Metabolic defect: deficiency of the acid protease tri-peptidyl-peptidase (TPP-1)[1] Other cholesterol degradation/transport diseases: neuronal ceroid lipofuscinosis: type I, type III, 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).

Retinal dystrophy, typically central at first and rapid

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

One of five conditions that account for the majority of cases of progressive myoclonus epilepsies. Deposition of lipopigments in rods and cones leads to visual disturbance and abnormal electroretinogram. With the late infantile form:

Onset is from 2 to 4 years of age

Life expectancy can be between 5 and 30+ years of age

Inheritance pattern:^[2] autosomal recessive

Incidence: 1 in 25,000 (for types I, II, III, and IV together)^[3]

Diagnosis: electron microscopy to investigate storage materials; enzyme assay; mutation analysis; prenatal diagnosis available ^[3]

Conditions with similar presentations:^[1] other LSDs; mitochrondrial diseases; leukodystrophies

Management: no disease-specific treatment available

Other medical care: symptom management

Initial:

Myoclonic seizures and drop attacks

Generalized tonic-clonic seizures

Atonic attacks

Atypical absences

After a few months, myoclonic seizures become prominent

Later:

Deterioration of motor abilities and intelligence

Non-ambulatory by 3-5 years of age

Progressive dementia to vegetative state

Cerebellar ataxia and poor motor coordination

Microcephaly, spasticity

Later:

Optic atrophy; blind by 6 years of age

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

2. www.ninds.nih.gov/health_and_medical/pubs/batten_disease.htm

3. www.pitt.edu/AFShome/g/e/geneorb/public/html/courses/lyso_trials/ncl.html%20