Familial cerebellar ataxia with muscle coenzyme Q10 deficiency

Abstract

Primary CoQ10 deficiency is a potentially important cause of familial ataxia and should be considered in the differential diagnosis of this condition because CoQ10 administration seems to improve the clinical picture.

Autosomal recessive ataxias: 20 types, and counting

“…Five clinical subtypes have been recognized: (1) Encephalomyophatic, with mitochondrial myopathy, recurrent myoglobinuria and CNS symptoms and signs; (2) Early infantile multisystemic, with severe visceral and brain manifestations; (3) Leigh syndrome; (4) Pure myopathic; (5) Ataxic 14,15,17 .…”

“…Early symptoms might include developmental delay, hypotonia and frequent falls. Global, progressive ataxia, and dysarthria start before the adolescence 17 . Epileptic seizures, proximal or distal muscle weakness, dysphagia, ophthalmoparesis, nystagmus, peripheral axonal neuropathy, pyramidal signs and scoliosis might also be present 14,15,17 .…”

CoQ10 deficiency diseases in adults

“…His siblings showed similar improvements. In addition, seizures in the affected sister disappeared on CoQ 10 therapy and her anti-convulsant medication was discontinued (Musumeci et al, 2001). In these 3 patients, we demonstrated that CoQ 10 deficiency was secondary to a stop codon mutation in the APTX gene, which is known to cause ataxia-oculomotor-aprataxia 1 (AOA1) (Quinzii et al, 2005,Date et al, 2001Moreira et al, 2001).…”

“…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).…”