[Review of the pathogenetic problem of hereditary ataxia].
In the inherited ataxias, a heterogeneous group of relatively rare and progressive neurological disorders, abnormalities in pyruvate metabolism have been described. Pyruvate is involved in the glycolitic pathway as an important step, and utilized in the Krebs cycle, the main energy source in the brain. Furthermore, pyruvate and other intermediates in the Krebs cycle, can also serve as a precursors of amino acids for which a role as a neurotransmitter has been shown. The explanation of the basic biochemistry may serve as a basis for a more steady knowledge of the clinical and pathological findings of such diseases.
D000596:Amino Acids / Q000378:metabolism; D001259:Ataxia / Q000235:genetics* / Q000378:metabolism; D002524:Cerebellar Ataxia / Q000235:genetics / Q000378:metabolism; D002952:Citric Acid Cycle; D048909:Diabetes Complications; D005621:Friedreich Ataxia / Q000378:metabolism; D006019:Glycolysis; D006801:Humans; D010088:Oxidoreductases / Q000378:metabolism; D011768:Pyruvate Dehydrogenase Complex / Q000378:metabolism; D011773:Pyruvates / Q000378:metabolism; D019289:Pyruvic Acid; D005680:gamma-Aminobutyric Acid / Q000378:metabolism
D000596:Amino Acids; D011768:Pyruvate Dehydrogenase Complex; D011773:Pyruvates; D005680:gamma-Aminobutyric Acid; D019289:Pyruvic Acid; D010088:Oxidoreductases
Revisione del problema patogenetico delle eredoatassie.