Mitochondrial membrane protein-associated neurodegeneration: a case report and literature review
Language English Country England, Great Britain Media print-electronic
Document type Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Review
- Keywords
- C19orf12 mutation, MPAN, iron accumulation, neurodegeneration, parkinsonism,
- MeSH
- Adult MeSH
- Interleukins genetics MeSH
- Humans MeSH
- Young Adult MeSH
- Neuroaxonal Dystrophies * diagnostic imaging genetics physiopathology MeSH
- Iron Metabolism Disorders * diagnostic imaging genetics physiopathology MeSH
- Mitochondrial Membrane Transport Proteins * MeSH
- Check Tag
- Adult MeSH
- Humans MeSH
- Young Adult MeSH
- Male MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
- Research Support, Non-U.S. Gov't MeSH
- Review MeSH
- Names of Substances
- Interleukins MeSH
- MYDGF protein, human MeSH Browser
- Mitochondrial Membrane Transport Proteins * MeSH
Mitochondrial membrane protein-associated neurodegeneration (MPAN) is an autosomal recessive disorder caused by mutation in the C19orf12 gene. We report a compound heterozygous c.[32C>T];[205G>A;424A>G] (p.[Thr11Met];[Gly69Arg;Lys142Glu]) Czech patient who manifested with right foot dystonia, impaired handwriting, attention deficit, and signs of iron accumulation on brain MRI. Gradually, he developed dysarthria, spastic-dystonic gait, pedes cavi, and atrophy of leg muscles. Additionally, we report demographic parameters, clinical signs, and allelic frequencies of C19orf12 mutations of all published MPAN cases. We compared the most frequent mutations, p.Thr11Met and p.Gly69ArgfsX10; the latter was associated with younger age at onset and more frequent optic atrophy in homozygotes.
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