Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation
CM Quinzii, AG Kattah, A Naini, HO Akman… - Neurology, 2005 - AAN Enterprises
Neurology, 2005•AAN Enterprises
Primary muscle coenzyme Q10 (CoQ10) deficiency is an apparently autosomal recessive
condition with heterogeneous clinical presentations. Patients with these disorders improve
with CoQ10 supplementation. In a family with ataxia and CoQ10 deficiency, analysis of
genome-wide microsatellite markers suggested linkage of the disease to chromosome 9p13
and led to identification of an aprataxin gene (APTX) mutation that causes ataxia oculomotor
apraxia (AOA1 [MIM606350]). The authors' observations indicate that CoQ10 deficiency may …
condition with heterogeneous clinical presentations. Patients with these disorders improve
with CoQ10 supplementation. In a family with ataxia and CoQ10 deficiency, analysis of
genome-wide microsatellite markers suggested linkage of the disease to chromosome 9p13
and led to identification of an aprataxin gene (APTX) mutation that causes ataxia oculomotor
apraxia (AOA1 [MIM606350]). The authors' observations indicate that CoQ10 deficiency may …
Primary muscle coenzyme Q10 (CoQ10) deficiency is an apparently autosomal recessive condition with heterogeneous clinical presentations. Patients with these disorders improve with CoQ10 supplementation. In a family with ataxia and CoQ10 deficiency, analysis of genome-wide microsatellite markers suggested linkage of the disease to chromosome 9p13 and led to identification of an aprataxin gene (APTX) mutation that causes ataxia oculomotor apraxia (AOA1 [MIM606350]). The authors’ observations indicate that CoQ10 deficiency may contribute to the pathogenesis of AOA1.
American Academy of Neurology