MovDisordV3, Main, Exploration, bibRecord, 001F65

Coenzyme Q10-Responsive Ataxia: 2-Year-Treatment Follow-up

Identifieur interne : 001F65 ( Main/Exploration ); précédent : 001F64; suivant : 001F66

Coenzyme Q10-Responsive Ataxia: 2-Year-Treatment Follow-up

Auteurs : Merce Pineda [Espagne] ; Raquel Montero [Espagne] ; Asuncion Aracil [Espagne] ; Mar M. O'Callaghan [Espagne] ; Ana Mas [Espagne] ; Carmen Espinos [Espagne] ; Dolores Martinez-Rubio [Espagne] ; Francesc Palau [Espagne] ; Placido Navas [Espagne] ; Paz Briones [Espagne] ; Rafael Artuch [Espagne]

Source :

Movement disorders [ 0885-3185 ] ; 2010.

RBID : Pascal:10-0376242

Descripteurs français

Pascal (Inist)
- Ataxie, Déficit, Cytopathie mitochondriale, Pathologie du système nerveux, Traitement, Cervelet, Enfant, Pédiatrie.
Wicri :
- topic : Déficit, Enfant, Pédiatrie.

English descriptors

KwdEn :
- Ataxia, Cerebellum, Child, Deficiency, Mitochondrial disorder, Nervous system diseases, Pediatrics, Treatment.

Abstract

We assessed the clinical outcome after coenzyme Q₁₀(CoQ₁₀) therapy in 14 patients presenting ataxia classified into two groups according to CoQ₁₀ values in muscle (deficient or not). We performed an open-label prospective study: patients were evaluated clinically (international cooperative ataxia rating scale [ICARS] scale, MRI, and videotape registration) at baseline and every 6 months during a period of 2 years after CoQ₁₀ treatment (30 mg/kg/day). Patients with CoQ₁₀ deficiency showed a statistically significant reduction of ICARS scores (Wilcoxon test: P = 0.018) after 2 years of CoQ₁₀ treatment when compared with baseline conditions. In patients without CoQ₁₀ deficiency, no statistically significant differences were observed in total ICARS scores after therapy, although 1 patient from this group showed a remarkable clinical amelioration. Biochemical diagnosis of CoQ₁₀ deficiency was a useful tool for the selection of patients who are good candidates for treatment as all of them responded to therapy. However, the remarkable clinical response in 1 case without CoQ₁₀ deficiency highlights the importance of treatment trials for identification of patients with CoQ₁₀-responsive ataxia.

Affiliations:

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Le document en format XML

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-Responsive Ataxia: 2-Year-Treatment Follow-up</title>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Coenzyme Q<sub>10</sub>
-Responsive Ataxia: 2-Year-Treatment Follow-up</title>
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<author><name sortKey="Espinos, Carmen" sort="Espinos, Carmen" uniqKey="Espinos C" first="Carmen" last="Espinos">Carmen Espinos</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER)</s1>
<s2>ISCIII</s2>
<s3>ESP</s3>
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<sZ>8 aut.</sZ>
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<country>Espagne</country>
<wicri:noRegion>Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER)</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Martinez Rubio, Dolores" sort="Martinez Rubio, Dolores" uniqKey="Martinez Rubio D" first="Dolores" last="Martinez-Rubio">Dolores Martinez-Rubio</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER)</s1>
<s2>ISCIII</s2>
<s3>ESP</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
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<sZ>9 aut.</sZ>
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<sZ>11 aut.</sZ>
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<country>Espagne</country>
<wicri:noRegion>Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER)</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Genetics and Medicine Molecular Unit, Instituto de Biomedicina de Valencia-CSIC</s1>
<s2>Valencia</s2>
<s3>ESP</s3>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Espagne</country>
<wicri:noRegion>Valencia</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Palau, Francesc" sort="Palau, Francesc" uniqKey="Palau F" first="Francesc" last="Palau">Francesc Palau</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER)</s1>
<s2>ISCIII</s2>
<s3>ESP</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
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<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
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<country>Espagne</country>
<wicri:noRegion>Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER)</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Genetics and Medicine Molecular Unit, Instituto de Biomedicina de Valencia-CSIC</s1>
<s2>Valencia</s2>
<s3>ESP</s3>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Espagne</country>
<wicri:noRegion>Valencia</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Navas, Placido" sort="Navas, Placido" uniqKey="Navas P" first="Placido" last="Navas">Placido Navas</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER)</s1>
<s2>ISCIII</s2>
<s3>ESP</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
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<sZ>11 aut.</sZ>
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<country>Espagne</country>
<wicri:noRegion>Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER)</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide</s1>
<s2>Sevilla</s2>
<s3>ESP</s3>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Espagne</country>
<wicri:noRegion>Sevilla</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Briones, Paz" sort="Briones, Paz" uniqKey="Briones P" first="Paz" last="Briones">Paz Briones</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER)</s1>
<s2>ISCIII</s2>
<s3>ESP</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
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<sZ>9 aut.</sZ>
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<sZ>11 aut.</sZ>
</inist:fA14>
<country>Espagne</country>
<wicri:noRegion>Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER)</wicri:noRegion>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="07"><s1>Institut de Bioquímica Clínica, Hospital Clinic and CSIC</s1>
<s2>Barcelona</s2>
<s3>ESP</s3>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Espagne</country>
<placeName><settlement type="city">Barcelone</settlement>
<region nuts="2" type="region">Catalogne</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Artuch, Rafael" sort="Artuch, Rafael" uniqKey="Artuch R" first="Rafael" last="Artuch">Rafael Artuch</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER)</s1>
<s2>ISCIII</s2>
<s3>ESP</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>Espagne</country>
<wicri:noRegion>Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER)</wicri:noRegion>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Clinical Biochemistry, Hospital Sant Joan de Déu</s1>
<s2>Barcelona</s2>
<s3>ESP</s3>
<sZ>2 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>Espagne</country>
<placeName><settlement type="city">Barcelone</settlement>
<region nuts="2" type="region">Catalogne</region>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2010">2010</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Ataxia</term>
<term>Cerebellum</term>
<term>Child</term>
<term>Deficiency</term>
<term>Mitochondrial disorder</term>
<term>Nervous system diseases</term>
<term>Pediatrics</term>
<term>Treatment</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Ataxie</term>
<term>Déficit</term>
<term>Cytopathie mitochondriale</term>
<term>Pathologie du   système nerveux</term>
<term>Traitement</term>
<term>Cervelet</term>
<term>Enfant</term>
<term>Pédiatrie</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Déficit</term>
<term>Enfant</term>
<term>Pédiatrie</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">We assessed the clinical outcome after coenzyme Q<sub>10</sub>
(CoQ<sub>10</sub>
) therapy in 14 patients presenting ataxia classified into two groups according to CoQ<sub>10</sub>
 values in muscle (deficient or not). We performed an open-label prospective study: patients were evaluated clinically (international cooperative ataxia rating scale [ICARS] scale, MRI, and videotape registration) at baseline and every 6 months during a period of 2 years after CoQ<sub>10</sub>
 treatment (30 mg/kg/day). Patients with CoQ<sub>10</sub>
 deficiency showed a statistically significant reduction of ICARS scores (Wilcoxon test: P = 0.018) after 2 years of CoQ<sub>10</sub>
 treatment when compared with baseline conditions. In patients without CoQ<sub>10</sub>
 deficiency, no statistically significant differences were observed in total ICARS scores after therapy, although 1 patient from this group showed a remarkable clinical amelioration. Biochemical diagnosis of CoQ<sub>10</sub>
 deficiency was a useful tool for the selection of patients who are good candidates for treatment as all of them responded to therapy. However, the remarkable clinical response in 1 case without CoQ<sub>10</sub>
 deficiency highlights the importance of treatment trials for identification of patients with CoQ<sub>10</sub>
-responsive ataxia.</div>
</front>
</TEI>
<affiliations><list><country><li>Espagne</li>
</country>
<region><li>Catalogne</li>
</region>
<settlement><li>Barcelone</li>
</settlement>
</list>
<tree><country name="Espagne"><region name="Catalogne"><name sortKey="Pineda, Merce" sort="Pineda, Merce" uniqKey="Pineda M" first="Merce" last="Pineda">Merce Pineda</name>
</region>
<name sortKey="Aracil, Asuncion" sort="Aracil, Asuncion" uniqKey="Aracil A" first="Asuncion" last="Aracil">Asuncion Aracil</name>
<name sortKey="Aracil, Asuncion" sort="Aracil, Asuncion" uniqKey="Aracil A" first="Asuncion" last="Aracil">Asuncion Aracil</name>
<name sortKey="Artuch, Rafael" sort="Artuch, Rafael" uniqKey="Artuch R" first="Rafael" last="Artuch">Rafael Artuch</name>
<name sortKey="Artuch, Rafael" sort="Artuch, Rafael" uniqKey="Artuch R" first="Rafael" last="Artuch">Rafael Artuch</name>
<name sortKey="Briones, Paz" sort="Briones, Paz" uniqKey="Briones P" first="Paz" last="Briones">Paz Briones</name>
<name sortKey="Briones, Paz" sort="Briones, Paz" uniqKey="Briones P" first="Paz" last="Briones">Paz Briones</name>
<name sortKey="Espinos, Carmen" sort="Espinos, Carmen" uniqKey="Espinos C" first="Carmen" last="Espinos">Carmen Espinos</name>
<name sortKey="Martinez Rubio, Dolores" sort="Martinez Rubio, Dolores" uniqKey="Martinez Rubio D" first="Dolores" last="Martinez-Rubio">Dolores Martinez-Rubio</name>
<name sortKey="Martinez Rubio, Dolores" sort="Martinez Rubio, Dolores" uniqKey="Martinez Rubio D" first="Dolores" last="Martinez-Rubio">Dolores Martinez-Rubio</name>
<name sortKey="Mas, Ana" sort="Mas, Ana" uniqKey="Mas A" first="Ana" last="Mas">Ana Mas</name>
<name sortKey="Montero, Raquel" sort="Montero, Raquel" uniqKey="Montero R" first="Raquel" last="Montero">Raquel Montero</name>
<name sortKey="Montero, Raquel" sort="Montero, Raquel" uniqKey="Montero R" first="Raquel" last="Montero">Raquel Montero</name>
<name sortKey="Navas, Placido" sort="Navas, Placido" uniqKey="Navas P" first="Placido" last="Navas">Placido Navas</name>
<name sortKey="Navas, Placido" sort="Navas, Placido" uniqKey="Navas P" first="Placido" last="Navas">Placido Navas</name>
<name sortKey="O Callaghan, Mar M" sort="O Callaghan, Mar M" uniqKey="O Callaghan M" first="Mar M." last="O'Callaghan">Mar M. O'Callaghan</name>
<name sortKey="O Callaghan, Mar M" sort="O Callaghan, Mar M" uniqKey="O Callaghan M" first="Mar M." last="O'Callaghan">Mar M. O'Callaghan</name>
<name sortKey="Palau, Francesc" sort="Palau, Francesc" uniqKey="Palau F" first="Francesc" last="Palau">Francesc Palau</name>
<name sortKey="Palau, Francesc" sort="Palau, Francesc" uniqKey="Palau F" first="Francesc" last="Palau">Francesc Palau</name>
<name sortKey="Pineda, Merce" sort="Pineda, Merce" uniqKey="Pineda M" first="Merce" last="Pineda">Merce Pineda</name>
</country>
</tree>
</affiliations>
</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

Coenzyme Q10-Responsive Ataxia: 2-Year-Treatment Follow-up

Coenzyme Q10-Responsive Ataxia: 2-Year-Treatment Follow-up

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