A Novel Nonsense Mutation in DNAJC6 Expands the Phenotype of Autosomal-Recessive Juvenile-Onset Parkinson's Disease
Liena Elbaghir Omer Elsayed MBBS, MSc
Inserm U1127, CNRS UMR7225, Sorbonne Universités, UPMC Université Paris 06, UMR_S1127, Institut du Cerveau et de la Moelle épinière, Paris, France
Ecole Pratique des Hautes Etudes, Pitié-Salpêtrière Hospital, ICM, Paris, France
Faculty of Medicine, University of Khartoum, Khartoum, Sudan
Search for more papers by this authorValérie Drouet PhD
Inserm U1127, CNRS UMR7225, Sorbonne Universités, UPMC Université Paris 06, UMR_S1127, Institut du Cerveau et de la Moelle épinière, Paris, France
Search for more papers by this authorTatiana Usenko PhD
Inserm U1127, CNRS UMR7225, Sorbonne Universités, UPMC Université Paris 06, UMR_S1127, Institut du Cerveau et de la Moelle épinière, Paris, France
Search for more papers by this authorInaam N. Mohammed MD
Faculty of Medicine, University of Khartoum, Khartoum, Sudan
Search for more papers by this authorAhlam AbdAlrahman Ahmed Hamed MD
Faculty of Medicine, University of Khartoum, Khartoum, Sudan
Search for more papers by this authorMaha Abdelmoneim Elseed MD
Faculty of Medicine, University of Khartoum, Khartoum, Sudan
Search for more papers by this authorMustafa A.M. Salih MD, Dr Med Sci
Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia
Search for more papers by this authorMahmoud Eltayeb Koko MBBS, MSc
Department of Molecular Biology, Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan
Search for more papers by this authorAshraf Yahia Osman Mohamed MBBS, MSc
Department of Biochemistry, Faculty of Medicine, National University, Khartoum, Sudan
Search for more papers by this authorRayan Abubaker Siddig BSc
Faculty of Science, University of Elneelen, Khartoum, Sudan
Search for more papers by this authorMustafa Idris Elbashir PhD
Faculty of Medicine, University of Khartoum, Khartoum, Sudan
Search for more papers by this authorMuntaser Eltayeb Ibrahim PhD
Department of Molecular Biology, Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan
Search for more papers by this authorAlexandra Durr MD, PhD
Inserm U1127, CNRS UMR7225, Sorbonne Universités, UPMC Université Paris 06, UMR_S1127, Institut du Cerveau et de la Moelle épinière, Paris, France
APHP, Department of Genetics, Pitié-Salpêtrière Hospital, Paris, France
Search for more papers by this authorGiovanni Stevanin PhD
Inserm U1127, CNRS UMR7225, Sorbonne Universités, UPMC Université Paris 06, UMR_S1127, Institut du Cerveau et de la Moelle épinière, Paris, France
Ecole Pratique des Hautes Etudes, Pitié-Salpêtrière Hospital, ICM, Paris, France
APHP, Department of Genetics, Pitié-Salpêtrière Hospital, Paris, France
Search for more papers by this authorSuzanne Lesage PhD
Inserm U1127, CNRS UMR7225, Sorbonne Universités, UPMC Université Paris 06, UMR_S1127, Institut du Cerveau et de la Moelle épinière, Paris, France
Search for more papers by this authorAmmar Eltahir Ahmed MD, PhD
Faculty of Medicine, University of Khartoum, Khartoum, Sudan
Search for more papers by this authorAlexis Brice MD
Inserm U1127, CNRS UMR7225, Sorbonne Universités, UPMC Université Paris 06, UMR_S1127, Institut du Cerveau et de la Moelle épinière, Paris, France
APHP, Department of Genetics, Pitié-Salpêtrière Hospital, Paris, France
Search for more papers by this authorLiena Elbaghir Omer Elsayed MBBS, MSc
Inserm U1127, CNRS UMR7225, Sorbonne Universités, UPMC Université Paris 06, UMR_S1127, Institut du Cerveau et de la Moelle épinière, Paris, France
Ecole Pratique des Hautes Etudes, Pitié-Salpêtrière Hospital, ICM, Paris, France
Faculty of Medicine, University of Khartoum, Khartoum, Sudan
Search for more papers by this authorValérie Drouet PhD
Inserm U1127, CNRS UMR7225, Sorbonne Universités, UPMC Université Paris 06, UMR_S1127, Institut du Cerveau et de la Moelle épinière, Paris, France
Search for more papers by this authorTatiana Usenko PhD
Inserm U1127, CNRS UMR7225, Sorbonne Universités, UPMC Université Paris 06, UMR_S1127, Institut du Cerveau et de la Moelle épinière, Paris, France
Search for more papers by this authorInaam N. Mohammed MD
Faculty of Medicine, University of Khartoum, Khartoum, Sudan
Search for more papers by this authorAhlam AbdAlrahman Ahmed Hamed MD
Faculty of Medicine, University of Khartoum, Khartoum, Sudan
Search for more papers by this authorMaha Abdelmoneim Elseed MD
Faculty of Medicine, University of Khartoum, Khartoum, Sudan
Search for more papers by this authorMustafa A.M. Salih MD, Dr Med Sci
Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia
Search for more papers by this authorMahmoud Eltayeb Koko MBBS, MSc
Department of Molecular Biology, Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan
Search for more papers by this authorAshraf Yahia Osman Mohamed MBBS, MSc
Department of Biochemistry, Faculty of Medicine, National University, Khartoum, Sudan
Search for more papers by this authorRayan Abubaker Siddig BSc
Faculty of Science, University of Elneelen, Khartoum, Sudan
Search for more papers by this authorMustafa Idris Elbashir PhD
Faculty of Medicine, University of Khartoum, Khartoum, Sudan
Search for more papers by this authorMuntaser Eltayeb Ibrahim PhD
Department of Molecular Biology, Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan
Search for more papers by this authorAlexandra Durr MD, PhD
Inserm U1127, CNRS UMR7225, Sorbonne Universités, UPMC Université Paris 06, UMR_S1127, Institut du Cerveau et de la Moelle épinière, Paris, France
APHP, Department of Genetics, Pitié-Salpêtrière Hospital, Paris, France
Search for more papers by this authorGiovanni Stevanin PhD
Inserm U1127, CNRS UMR7225, Sorbonne Universités, UPMC Université Paris 06, UMR_S1127, Institut du Cerveau et de la Moelle épinière, Paris, France
Ecole Pratique des Hautes Etudes, Pitié-Salpêtrière Hospital, ICM, Paris, France
APHP, Department of Genetics, Pitié-Salpêtrière Hospital, Paris, France
Search for more papers by this authorSuzanne Lesage PhD
Inserm U1127, CNRS UMR7225, Sorbonne Universités, UPMC Université Paris 06, UMR_S1127, Institut du Cerveau et de la Moelle épinière, Paris, France
Search for more papers by this authorAmmar Eltahir Ahmed MD, PhD
Faculty of Medicine, University of Khartoum, Khartoum, Sudan
Search for more papers by this authorAlexis Brice MD
Inserm U1127, CNRS UMR7225, Sorbonne Universités, UPMC Université Paris 06, UMR_S1127, Institut du Cerveau et de la Moelle épinière, Paris, France
APHP, Department of Genetics, Pitié-Salpêtrière Hospital, Paris, France
Search for more papers by this author
References
- 1Olgiati S, Quadri M, Fang M, et al. DNAJC6 mutations associated with early-onset Parkinson's disease. Ann Neurol 2015 Nov 3. doi: 10.1002/ana.24553. [Epub ahead of print]
10.1002/ana.24553 Google Scholar
- 2Edvardson S, Cinnamon Y, Ta-Shma A, et al. A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism. PLoS One 2012; 7: e36458.
- 3Köroğlu Ç, Baysal L, Cetinkaya M, Karasoy H et al. DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability. Parkinsonism Relat Disord 2013; 19: 320–324.