What are symptoms of Alpers disease?
Alpers disease is a progressive neurologic disorder that begins during childhood and is complicated in many instances by serious liver disease. Symptoms include increased muscle tone with exaggerated reflexes (spasticity), seizures, and loss of cognitive ability (dementia).
How does Alpers disease affect the mitochondria?
Alpers’ syndrome is most often caused by a genetic mistake in a gene called POLG. This gene provides the instructions needed to make a protein called polymerase gamma, which is responsible for “reading” sequences of mitochondrial DNA (mtDNA) and using them as a template to produce more mtDNA within the mitochondria.
What is the cause of Alpers disease?
It is an autosomal recessive disease caused by mutation in the gene for the mitochondrial DNA polymerase POLG. The disease occurs in about one in 100,000 persons. Most individuals with Alpers’ disease do not show symptoms at birth and develop normally for weeks to years before the onset of symptoms.
What is a POLG mutation?
Mutations in the POLG gene are frequently responsible for an eye condition called progressive external ophthalmoplegia, another POLG-related disorder. This condition weakens the muscles that control eye movement and causes the eyelids to droop (ptosis).
How is Alpers disease treated?
There is no cure for Alpers disease and no way to slow its progression. Treatment is symptomatic and supportive. Anticonvulsant medications may be used to treat the seizures, with usually poor medical response. Physical therapy may help to relieve spasticity and maintain or increase muscle tone.
Is mitochondrial disease fatal?
If a lot of Mitochondria in the body are affected, especially in important body organs, mitochondrial disease can be very serious and often fatal.
Is POLG mutation fatal?
Alpers syndrome appears to be the most common autosomal recessive disease caused by mutations in the POLG gene. This early-onset fatal disease is characterized by intractable seizures, hepatic failure, and global neurological deterioration (Naviaux and Nguyen, 2004).
How common is POLG mutation?
POLG mutations are relatively rare, with an estimated carrier frequency of 1/100 individuals in the Western world [11]. Most are recessive, and symptoms typically manifest only in compound heterozygous patients.
When was Alpers disease discovered?
Alpers syndrome, first described in 1931, is a severe progressive encephalopathy with onset in infancy or childhood (onset in adulthood has been seldom reported).
