Cerebellar ataxia and coenzyme Q10 deficiency

Abstract

The authors measured coenzyme Q10 (CoQ10) concentration in muscle biopsies from 135 patients with genetically undefined cerebellar ataxia. Thirteen patients with childhood-onset ataxia and cerebellar atrophy had markedly decreased levels of CoQ10. Associated symptoms included seizures, developmental delay, mental retardation, and pyramidal signs. These findings confirm the existence of an ataxic presentation of CoQ10 deficiency, which may be responsive to CoQ10 supplementation.

Hereditary ataxias: overview

“…47 Coenzyme Q10 (CoQ10) deficiency is often associated with seizures, cognitive decline, pyramidal track signs, and myopathy but may also include prominent cerebellar ataxia. 48,49 The symptoms may respond to CoQ10 treatment.…”

How Can We Treat Mitochondrial Encephalomyopathies? Approaches to Therapy

“…Patients with the ataxic form usually require higher doses and respond less dramatically, probably because of irreversible cerebellar damage. 63 Associated symptoms included seizures, developmental delay, mental retardation, and pyramidal signs. These findings confirm the existence of an ataxic presentation of CoQ10 deficiency, which may be responsive to CoQ10 supplementation; however, the real percentage of recessive ataxias related to mutations in CoQ10 related genes is not known.…”

CoQ10 deficiency diseases in adults

“…Primary CoQ 10 deficiency causes clinically heterogeneous diseases: 1) encephalomyopathy characterized by the triad of recurrent myoglobinuria, brain involvement and ragged-red fibers (Ogasahara et al, 1989;Sobreira et al, 1997;Boitier et al, 1998;DiGiovanni et al, 2001;Aure et al, 2004); 2) severe infantile multisystemic disease (Rötig et al, 2000;Rahman et al, 2001;Salviati et al, 2005); 3) cerebellar ataxia (Musumeci et al, 2001;Lamperti et al, 2003;Gironi et al, 2004;Artuch et al, 2006); 4) Leigh syndrome with growth retardation, ataxia and deafness (Van Mardergem et al, 2002); and 5) isolated myopathy (Lalani et al, 2005;Horvath et al, 2006). These disorders are transmitted as autosomal recessive traits and in most cases respond to CoQ 10 supplementation.…”

“…Among reported patients with presumed primary CoQ 10 deficiency, 12 are adults (Table 1) (Musumeci et al, 2001,Van Maldergem et al, 2002Lamperti et al, 2003;Gironi et al, 2004;Horvath et al, 2006). In some adult patients, onset of the disease was during childhood, but Lamperti and colleagues described four with adult-onset ataxia among a cohort of eighteen patients with cerebellar ataxia and low CoQ 10 levels in muscle (Lamperti et al, 2003) while Gironi et al and Horvath et al reported four patients who presented at ages ranging from 29 to 39 years old (Gironi et al, 2004;Horvath et al, 2006).…”

“…In some adult patients, onset of the disease was during childhood, but Lamperti and colleagues described four with adult-onset ataxia among a cohort of eighteen patients with cerebellar ataxia and low CoQ 10 levels in muscle (Lamperti et al, 2003) while Gironi et al and Horvath et al reported four patients who presented at ages ranging from 29 to 39 years old (Gironi et al, 2004;Horvath et al, 2006).…”