Title |
A multicenter study on Leigh syndrome: disease course and predictors of survival
|
---|---|
Published in |
Orphanet Journal of Rare Diseases, April 2014
|
DOI | 10.1186/1750-1172-9-52 |
Pubmed ID | |
Authors |
Kalliopi Sofou, Irenaeus F M De Coo, Pirjo Isohanni, Elsebet Ostergaard, Karin Naess, Linda De Meirleir, Charalampos Tzoulis, Johanna Uusimaa, Isabell B De Angst, Tuula Lönnqvist, Helena Pihko, Katariina Mankinen, Laurence A Bindoff, Már Tulinius, Niklas Darin |
Abstract |
Leigh syndrome is a progressive neurodegenerative disorder, associated with primary or secondary dysfunction of the mitochondrial oxidative phosphorylation. Despite the fact that Leigh syndrome is the most common phenotype of mitochondrial disorders in children, longitudinal natural history data is missing. This study was undertaken to assess the phenotypic and genotypic spectrum of patients with Leigh syndrome, characterise the clinical course and identify predictors of survival in a large cohort of patients. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Mexico | 1 | 17% |
Unknown | 5 | 83% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 4 | 67% |
Practitioners (doctors, other healthcare professionals) | 1 | 17% |
Scientists | 1 | 17% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 2 | <1% |
Ethiopia | 1 | <1% |
Unknown | 219 | 99% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Bachelor | 45 | 20% |
Student > Master | 26 | 12% |
Researcher | 24 | 11% |
Student > Ph. D. Student | 17 | 8% |
Other | 14 | 6% |
Other | 42 | 19% |
Unknown | 54 | 24% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 64 | 29% |
Biochemistry, Genetics and Molecular Biology | 34 | 15% |
Neuroscience | 18 | 8% |
Agricultural and Biological Sciences | 15 | 7% |
Nursing and Health Professions | 7 | 3% |
Other | 21 | 9% |
Unknown | 63 | 28% |