CareLit · DOI-Nachweis · Aktuelle Neurologie
Two cases of ataxia with oculomotor apraxia type 1 (AOA1) without muscle coenzyme Q10 deficiency
DOI 10.1055/s-2007-987780
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Autor:innenK Kesper, R Horvath, C Zühlke, T Klockgether
ZeitschriftAktuelle Neurologie
Ausgabe09/2007
Jahrgang / SeitenNicht angegeben
Kernaussage aus der Literatur
Abstract-Vorschau
Background: Mutations in the aprataxin gene (APTX) cause early onset ataxia with oculomotor apraxia type 1 (AOA1), an autosomal recessive disorder associated with cerebellar atrophy, axonal sensorimotor neuropathy, hypoalbuminaemia and hypercholesterolaemia. It has been shown recently that aprataxin gene mutations are also associated with muscle coenzyme Q10 (CoQ10) deficiency and that patients with aprataxin mutati…
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Zitierempfehlung
K Kesper, R Horvath, C Zühlke, T Klockgether (2007) Two cases of ataxia with oculomotor apraxia type 1 (AOA1) without muscle coenzyme Q10 deficiency. Aktuelle Neurologie (09). https://doi.org/10.1055/s-2007-987780
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