Alpers disease


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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 syndrome

A 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.
 
Clinical findings  
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 years of onset; most patients die by adolescence. 
 
Molecular pathology
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 disease

Poliodystrophy 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
References in periodicals archive ?
Unfortunately the Smith family learned early on that knowledge about Alpers Disease is sparse because of both the rarity of the disease and the difficulty of the diagnosis of the disease.
Antonia has Alpers Disease, an extremely rare and incurable metabolic condition she inherited from her parents who both carrythe rogue gene that causes it.
In July, doctors at Yorkhill children's hospital in Glasgow diagnosed Alpers Disease.