Also known as: Kuf's or Parry’s Disease

Metabolic defect: deficiency of palmitoyl-protein thioesterase 1 (PPT1) Other cholesterol degradation/transport diseases: neuronal ceroid lipofuscinosis: type I, type II, type III

Current page: Neuronal ceroid lipofuscinosis - type IV Select Another Disease Select disease Acid sphingomyel. def. Aspartylglycosaminuria Cystinosis Fabry disease Farber disease Fucosidosis type I Fucosidosis type II Galactosialidosis Gaucher type I Gaucher type II Gaucher type III GM1 gangliosidosis I GM1 gangliosidosis II GM1 gangliosidosis III Infantile sialic acid Krabbé disease Mannosidosis Metachr. leukodys. I Metachr. leukodys. II Metachr. leukodys. III MPS I MPS II Hunter MPS III Sanfilippo MPS IV Morquio MPS VI Maroteaux-Lamy MPS VII Sly Mucolipidosis II Mucolipidosis III Mucolipidosis IV Neuro ceroid lipof I Neuro ceroid lipof II Neuro ceroid lipof III Neuro ceroid lipof IV Pompe disease Pycnodysostosis Salla disease Sandhoff type I Sialidosis type I Sialidosis type II Tay-Sachs type I Tay-Sachs type II Tay-Sachs type III

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.

With the adult form:

Onset is generally from 30 years of age, but can appear as early as 11^[1]

Milder, slower progressing symptoms

Does not cause blindness

Shortened life expectancy, generally around 40

Type A characterized by myoclonic epilepsy and often uncontrollable seizures^[1]

Type B characterized by behavior abnormalities and dementia[1]

Inheritance pattern:^[2] autosomal recessive or autosomal dominant

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

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

Conditions with similar presentations: Late Onset Tay-Sachs disease

Management: no disease-specific treatment available

Other medical care: symptom management

Neuropsychologic or personality changes

Extra-pyramidal signs, cerebellar ataxia, spasticity, chorea/choreoathetosis, myoclonus, dysarthria

Optic atrophy; blindness less common

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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 Accessed July 2004.