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po·li·o·dys·tro·phi·a ce·re·bri pro·gres·si·va in·fan·ti·lis[MIM*203700]
autosomal recessively inherited progressive spastic paresis of extremities with progressive mental deterioration, with development of seizures, blindness, and deafness, beginning during the first year of life, and with destruction and disorganization of nerve cells of the cerebral cortex.
Alpers syndromeA rare (1:105) autosomal recessive condition (OMIM:203700) clinically characterised by premature closure of cranial sutures resulting in a peaked skull and abnormal facies, and by intractable epilepsy, loss of mental and movement abilities (psychomotor regression) and liver disease, which first appears in toddlers. It is the most severe of the POLG-related disorders, which share signs and symptoms of muscle, nerve and cerebral dysfunction.
Seizures, incoordination, mental deterioration, spasticity, cortical blindness, cortical deafness.
Surgery to correct skull and facial defects.
Poor: death is the norm within 3 years of onset; most patients die by adolescence.
Alpers syndrome is caused by a mutation on POLG, a gene located on chromosome 15q26.1 that encodes the alpha subunit of polymerase gamma, which is critical for mitochondria’s role in energy metabolism.
Alpers diseasePoliodystrophy An AR condition characterized by premature closure of cranial sutures resulting in a peaked skull and abnormal facies Clinical accompanied by seizures, incoordination, mental deterioration, spasticity, cortical blindness, cortical deafness Management Surgery to correct skull and facial defects Prognosis Poor, death is the norm within 3 yrs of onset
α Symbol for A band in serum electrophoresis Statistics The probability of committing a Type I or false-positive error
Alpers,Bernard J., U.S. neurologist, 1900-1981.
Alpers disease - familial progressive spastic paresis of extremities with destruction and disorganization of nerve cells of the cerebral cortex. Synonym(s): poliodystrophia cerebri progressiva infantalis