Clinical,biochemical and molecular aspects of cerebellar ataxia and Coenzyme Q10 deficiency |
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Authors: | Raquel Montero Mercé Pineda Asun Aracil Maria-Antonia Vilaseca Paz Briones José-Antonio Sánchez-Alcázar Plácido Navas Rafael Artuch |
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Institution: | (1) Clinical Biochemistry Department, Hospital Sant Joan de Déu, Passeig Sant Joan de Déu, 2, 08950 Esplugues, Barcelona, Spain;(2) Neurology Departments, Hospital Sant Joan de Déu, Barcelona, Spain;(3) Institut de Bioquímica Clínica-CSIC, Barcelona;(4) Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide, Sevilla, Spain |
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Abstract: | Coenzyme Q10 (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. |
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Keywords: | Cerebellum ataxia coenzyme Q10 deficiency mitochondrial respiratory chain |
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