Literature DB >> 15007142

Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiency.

M Gironi1, C Lamperti, R Nemni, M Moggio, G Comi, F R Guerini, P Ferrante, N Canal, A Naini, N Bresolin, S DiMauro.   

Abstract

Two brothers had late-onset progressive ataxia, cerebellar atrophy, and hypergonadotropic hypogonadism associated with coenzyme Q10 (CoQ10) deficiency in skeletal muscle. Both patients improved on high-dose CoQ10 supplementation, stressing the importance of CoQ10 deficiency in the differential diagnosis of cerebellar ataxia, even when onset is late.

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Year:  2004        PMID: 15007142     DOI: 10.1212/01.wnl.0000113719.67643.b7

Source DB:  PubMed          Journal:  Neurology        ISSN: 0028-3878            Impact factor:   9.910


  31 in total

Review 1.  CoQ(10) deficiencies and MNGIE: two treatable mitochondrial disorders.

Authors:  Michio Hirano; Caterina Garone; Catarina M Quinzii
Journal:  Biochim Biophys Acta       Date:  2012-01-18

2.  A history of mitochondrial diseases.

Authors:  Salvatore Dimauro
Journal:  J Inherit Metab Dis       Date:  2010-05-21       Impact factor: 4.982

Review 3.  Ataxia.

Authors:  Umar Akbar; Tetsuo Ashizawa
Journal:  Neurol Clin       Date:  2015-02       Impact factor: 3.806

4.  Clinical presentations of coenzyme q10 deficiency syndrome.

Authors:  Catarina M Quinzii; Valentina Emmanuele; Michio Hirano
Journal:  Mol Syndromol       Date:  2014-07

5.  Genetic pathogenesis of Perrault Syndrome.

Authors:  Esma Sarıkaya
Journal:  J Turk Ger Gynecol Assoc       Date:  2012-06-01

Review 6.  Bacteria, yeast, worms, and flies: exploiting simple model organisms to investigate human mitochondrial diseases.

Authors:  Shane L Rea; Brett H Graham; Eiko Nakamaru-Ogiso; Adwitiya Kar; Marni J Falk
Journal:  Dev Disabil Res Rev       Date:  2010

Review 7.  Coenzyme Q and mitochondrial disease.

Authors:  Catarina M Quinzii; Michio Hirano
Journal:  Dev Disabil Res Rev       Date:  2010

Review 8.  CoQ10 deficiency diseases in adults.

Authors:  Catarina M Quinzii; Michio Hirano; Salvatore DiMauro
Journal:  Mitochondrion       Date:  2007-03-27       Impact factor: 4.160

9.  Human CoQ10 deficiencies.

Authors:  C M Quinzii; L C López; A Naini; S DiMauro; M Hirano
Journal:  Biofactors       Date:  2008       Impact factor: 6.113

10.  A novel mutation m.8561C>G in MT-ATP6/8 causing a mitochondrial syndrome with ataxia, peripheral neuropathy, diabetes mellitus, and hypergonadotropic hypogonadism.

Authors:  Laura Kytövuori; Joonas Lipponen; Harri Rusanen; Tuomas Komulainen; Mika H Martikainen; Kari Majamaa
Journal:  J Neurol       Date:  2016-08-08       Impact factor: 4.849

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