Bi‐Allelic COQ4 Variants Cause Adult‐Onset Ataxia‐Spasticity Spectrum Disease

Author:

Cordts Isabell1ORCID,Semmler Luisa1,Prasuhn Jannik23ORCID,Seibt Annette4,Herebian Diran4,Navaratnarajah Tharsini4,Park Joohyun5,Deininger Natalie5,Laugwitz Lucia56,Göricke Sophia L.7,Lingor Paul1,Brüggemann Norbert23ORCID,Münchau Alexander8ORCID,Synofzik Matthis910ORCID,Timmann Dagmar11,Mayr Johannes A.12,Haack Tobias B.513,Distelmaier Felix4,Deschauer Marcus1

Affiliation:

1. Department of Neurology, Klinikum rechts der Isar Technical University Munich Munich Germany

2. Department of Neurology, Center for Brain, Behavior, and Metabolism University Medical Center Schleswig‐Holstein Lübeck Germany

3. Institute of Neurogenetics University Medical Center Schleswig‐Holstein Lübeck Germany

4. Department of General Pediatrics, Neonatology, and Pediatric Cardiology Medical Faculty, Heinrich‐Heine‐University Düsseldorf Germany

5. Institute of Medical Genetics and Applied Genomics University of Tübingen Tübingen Germany

6. Department of Neuropediatrics, Developmental Neurology, and Social Pediatrics University of Tübingen Tübingen Germany

7. Institute of Diagnostic and Interventional Radiology and Neuroradiology Essen University Hospital, University of Duisburg‐Essen Essen Germany

8. Institute of Systems Motor Science University of Lübeck Lübeck Germany

9. Department of Neurodegeneration Hertie Institute for Clinical Brain Research (HIH), University of Tübingen Tübingen Germany

10. German Center for Neurodegenerative Diseases (DZNE) Tübingen Germany

11. Department of Neurology and Center for Translational Neuro‐ and Behavioral Sciences (C‐TNBS) Essen University Hospital Essen Germany

12. University Children's Hospital Salzburger Landeskliniken and Paracelsus Medical University Salzburg Salzburg Austria

13. Centre for Rare Diseases University of Tübingen Tübingen Germany

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Reference28 articles.

1. Genetics of Coenzyme Q10 Deficiency

2. Clinical syndromes associated with Coenzyme Q10 deficiency

3. The polar oxy-metabolome reveals the 4-hydroxymandelate CoQ10 synthesis pathway

4. The yeast Coq4 polypeptide organizes a mitochondrial protein complex essential for coenzyme Q biosynthesis. Biochimica et Biophysica Acta (BBA)‐molecular and cell biology of;Marbois B;Lipids,2009

5. COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency

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