Kufs Disease: Description, Causes and Risk Factors:
Any one of a group of inherited diseases characterized by failure to thrive, hypertonicity, progressive spastic paralysis, loss of vision and occurrence of blindness, usually with macular degeneration and optic atrophy, convulsions, and mental deterioration; associated with abnormal storage of sphingomyelin and related lipids in the brain.
This is a neurodegenerative disorder.
Alternative Name: Cerebral sphingolipidosis, adult type, adult-onset ceroidosis, amaurotic familial idiocy, adult, ceroid-lipofuscinosis, adult form, generalized lipofuscinosis, neuronal ceroid lipofuscinosis, adult type.
Kufs Disease, Batten Disease, Bielchowsky Disease, and Santavuori-Haltia Disease are different forms of the same family of disorders neuronal ceroid lipofuscinoses [NCL] that are differentiated by the age of onset.
Research has located a mutated gene responsible for Kufs as CLN4, although the protein that the gene codes has not been identified. Kufs disease is caused by mutations in the PPT1 gene (palmitoyl-protein thioesterase 1). However, it is unclear how PPT1 gene mutations cause the movement problems and cognitive decline characteristic of Kufs disease. The PPT1 gene provides instructions for making a protein called palmitoyl-protein thioesterase 1. This protein is found in structures called lysosomes, which are compartments within cells that break down and recycle different types of molecules. Palmitoyl-protein thioesterase 1 removes certain fats called long-chain fatty acids from other proteins so the fats can be broken down and used for energy.
Kufs is usually inherited as an autosomal recessive disease but can also be inherited as an autosomal dominant disease (Parry's). In the case of autosomal dominant inheritance, anyone who inherits a single copy of the defective gene is affected by the disease, and there are no unaffected carriers.
Type A: Type A is characterized by a combination of seizures and uncontrollable muscle jerks, dementia, ataxia, tremors or tics, and dysarthria.
- Type B: Type B is not associated with epilepsy or dysarthria; however, as with Kufs disease type A, its characteristic features include dementia, ataxia, tics and tremors. Individuals with Kufs disease type B may also experience changes in personality.
The signs and symptoms of Kufs disease typically appear around age 35-40, but they can develop anytime between adolescence and late adulthood. The condition worsens with time, and affected individuals usually survive about 10 years after the signs and symptoms first begin.
- Rapid involuntary movements.
- Skin dryness.
- Neurological symptoms include confusion, mental retardation, and generalized convulsions.
Kufs disease is difficult to diagnose on account of its heterogeneous clinical pattern and pathologic features, and the lack of a specific genetic locus alteration.Kufs is diagnosed based on the symptoms patient experience. Inaddition, diagnostic tests such as electroencephalogram and magnetic resonance imaging may be done. Samples of skin or tissue may be examined under a microscope to look for the buildup of lipofuscins. Eye tests may be done to look for various eye problems.
A urine test may be utilized to diagnose Kufs. The test measures increased levels of a chemical called dolichol. A biopsy of a tissue or skin sample to look for cellular deposits unique to NCL disorders often will confirm a diagnosis.
There is no cure for Kufs. Treatment is limited to reducing or controlling the symptoms of this disorder. Neurologists can assist in keeping seizures or nervous system complications under control. Physical and occupational therapists can help the affected individual maintain muscle movement and reduce muscle discomfort.
The above information is just informative purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.
DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.