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Clinical, biochemical and molecular aspects of cerebellar ataxia and Coenzyme Q10 deficiency

Content Provider	Springer Nature Link
Author	Montero, Raquel Pineda, Mercé Aracil, Asun Vilaseca, Maria Antonia Briones, Paz Sánchez Alcázar, José Antonio Navas, Plácido Artuch, Rafael
Copyright Year	2007
Abstract	Coenzyme Q$_{10}$ (CoQ) deficiency is an autosomal recessive disorder presenting five phenotypes: a myopathic form, a severe infantile neurological syndrome associated with nephritic syndrome, an ataxic variant, Leigh syndrome and a pure myopathic form. The third is the most common phenotype related with CoQ deficiency and it will be the focus of this review. This new syndrome presents muscle CoQ deficiency associated with cerebellar ataxia and cerebellar atrophy as the main neurological signs. Biochemically, the hallmark of CoQ deficiency syndrome is a decreased CoQ concentration in muscle and/or fibroblasts. There is no molecular evidence of the enzyme or gene involved in primary CoQ deficiencies associated with cerebellar ataxia, although recently a family has been reported with mutations atCOQ2 gene who present a distinct phenotype. Patients with primary CoQ deficiency may benefit from CoQ supplementation, although the clinical response to this therapy varies even among patients with similar phenotypes. Some present an excellent response to CoQ while others show only a partial improvement of some symptoms and signs. CoQ deficiency is the mitochondrial encephalomyopathy with the best clinical response to CoQ supplementation, highlighting the importance of an early identification of this disorder.
Starting Page	118
Ending Page	122
Page Count	5
File Format	PDF
ISSN	14734222
Journal	The Cerebellum
Volume Number	6
Issue Number	2
e-ISSN	14734230
Language	English
Publisher	Springer-Verlag
Publisher Date	2007-01-01
Publisher Place	New York
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Cerebellum ataxia coenzyme Q10 deficiency mitochondrial respiratory chain Neurosciences Neurobiology Neurology
Content Type	Text
Resource Type	Article
Subject	Neurology Neurology (clinical)

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