Alper's Disease (Diffuse Degeneration of Cerebral Gray Matter with Hepatic Cirrhosis)

Alper's Disease (Diffuse Degeneration of Cerebral Gray Matter with Hepatic Cirrhosis)

Dr. Kennedy
Alper’s disease is a progressive disease of the nervous system characterized by spasticity,
myoclonus and dementia and by jaundice and
cirrhosis. This disorder, first described by Alpers in 1931 as “Diffuse
progressive degeneration of gray matter of cerebrum,” usually begins early
in life with convulsions. A continuous seizure (status epilepticus) is often
the final event. Alpers diffuse degeneration of gray matter with hepatic cirrhosis
is due to more than one cause. Some cases are inherited as autosomal recessive
traits with both parents appearing normal but carrying one Alpers gene and each
of their children, boys and girls alike, running a 1 in 4 risk of receiving
both of the parental Alpers genes and suffering from this disease. Other
cases of Alpers disease are due to disorders of oxidative phosphorylation, including
mitochondrial DNA depletion syndromes.

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