Chapter title |
Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation
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Chapter number | 9 |
Book title |
JIMD Reports, Volume 37
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Published in |
JIMD Reports, January 2017
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DOI | 10.1007/8904_2017_9 |
Pubmed ID | |
Book ISBNs |
978-3-66-256358-8, 978-3-66-256359-5
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Authors |
Francesca Minoia, Marta Bertamino, Paolo Picco, Mariasavina Severino, Andrea Rossi, Chiara Fiorillo, Carlo Minetti, Claudia Nesti, Filippo Maria Santorelli, Maja Di Rocco, Minoia, Francesca, Bertamino, Marta, Picco, Paolo, Severino, Mariasavina, Rossi, Andrea, Fiorillo, Chiara, Minetti, Carlo, Nesti, Claudia, Santorelli, Filippo Maria, Di Rocco, Maja |
Abstract |
Leigh syndrome (LS) is an early-onset progressive neurodegenerative disorder, characterized by a wide clinical and genetic heterogeneity, and is the most frequent disorder of mitochondrial energy production in children. Beside its great variability in clinical, biochemical, and genetic features, LS is pathologically uniformly characterized by multifocal bilateral and symmetric spongiform degeneration of the basal ganglia, brainstem, thalamus, cerebellum, spinal cord, and optic nerves. Isolated complex I deficiency is the most common defect identified in Leigh syndrome. In 2011, the first child with a mutation of NDUFA10 gene, coding for an accessory subunits of complex I, was described. Here, we present an additional description of a child with Leigh syndrome harboring a homozygous mutation in NDUFA10, providing insights in clinical, biochemical, and neuroradiologic features for future earlier recognition. |
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Geographical breakdown
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Unknown | 9 | 100% |
Demographic breakdown
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Researcher | 3 | 33% |
Student > Ph. D. Student | 2 | 22% |
Student > Bachelor | 1 | 11% |
Unspecified | 1 | 11% |
Student > Master | 1 | 11% |
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Arts and Humanities | 1 | 11% |
Unknown | 1 | 11% |