The Relationship Between Alper's Syndrome and Prion Disease

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Alper’s syndrome and prion disease are two very rare yet closely related conditions that occurs in humans, although prion disease is also frequently seen in animals. Both diseases affect the nervous system of affected individuals.

What is Alper’s syndrome?

Alper’s syndrome, also referred to as progressive sclerosing poliodystrophy, is a genetic condition which is generally transmitted through the recessive pattern of inheritance, where both parents possess the genes and pass it on to their child or children. It often affects infants and children.

The disease results in the progressive deterioration of the grey matter of the brain, which is primarily involved in the body’s muscle control, sensory perception, speech, memory, and emotions. Symptoms in children usually occur during the first year of life, some as early as three months old. The essential indicators of Alper’s syndrome are discovered further on as the child exhibits developmental delays, low muscle tone, stiffness of limbs, advancing mental retardation and even dementia. The child may also suffer from loss of sight, deafness, and chronic liver impairments. Unfortunately, there is no known cure for the disease, and patients are mostly managed by medications to alleviate the symptoms.

Many scientist believed that Alper’s syndrome can be associated with some underlying metabolic conditions. Mutations in mitochondrial DNA may also play a role in its development. One distinct similarity among all cases of Alper’s disease is the spongiform appearance of the brain’s grey matter upon biopsy very much similar to what is seen in post mortem examination of patients with Prion disease.

What is Prion Disease?

Prion disease, also referred to as transmissible spongiform encephalopathies, is a group of progressive nervous system disorders in humans and animals primarily identified by the presence of sponge-like holes or vacuoles in the affected brain after death. These spongiform encephalopathies are often caused by infectious agents called prions.

Prions are infectious particles made up of small proteins that can cause disease by altering the structures of normal protein molecules into infectious ones. Prion diseases are characterized by progressive impairments of the nervous system causing memory problems, confusion, poor muscle coordination, behaviour problems and vision impairment.

Prion diseases are generally classified as sporadic, hereditary or acquired. Sporadic prion diseases usually occur in individuals without known family history of the disease. The disease is often passed to the children through the dominant hereditary pattern where one parent with the condition is capable of transmitting the defective gene to the offsprings. The gene responsible for prion disease is the PRNP gene whose mutation can lead to the production of PrPSc, an abnormal prion protein form. Exposure of a person to this PrPSc can lead to the development of acquired cases of prion disease.

Alper’s syndrome is one of the several types of prion diseases. It commonly occurs in infants and children and is often hereditary. Alper’s syndrome and prion disease both exhibit cognitive, neurologic, and behavioural changes in the affected patients. Alper’s syndrome and prion disease are progressively debilitating conditions that ultimately end in death. Management is frequently focused in prolonging the functionality and maintaining the quality of life of the patient.


Healthline: Alper’s Disease

Genetics Home Reference: Prion Disease