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Analyzing Mitochondrial Transport and Morphology in Human Induced Pluripotent Stem Cell-Derived Neurons in Hereditary Spastic Paraplegia
Published on: February 9, 2020
Hereditary spastic paraplegia associated with a rare IFIH1 mutation: a case report and literature review
Nan Liu1, Jiajun Chen1, Chuan Xu1
1Department of Neurology, China-Japan Union Hospital of Jilin University, Changchun, Jilin Province People's Republic of China.
Abstract:
Here, the pathogenesis of an IFIH1 gene mutation is discussed through the analysis of a sporadic case of hereditary spastic paraplegia. Next-generation sequencing was performed for the patient and his family members to detect mutations at the IFIH1 locus. The patient and his father were found to carry the same heterozygous missense mutation (c.1093A > G; p.Gly495Arg), while the patient's mother does not carry this mutation. This is the first report of this heterozygous IFIH1 mutation and it is predicted to be disease-causing.
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