Abstract

Pathogenic variants in SPG7 cause autosomal dominant progressive muscular atrophy. SPG7 encodes an inner mitochondrial membrane protein, paraplegin. Burgeoning lines of evidence  have continued to suggest important roles for paraplegin in mitochondria function. Here we report elevated levels of biochemical markers of mitochondria dysfunction [3-methylglutaconic acid and 3-methylglutaric acid (in urine and blood) as well as plasma Growth Differentiation Factor 15 (GDF 15)] in a 65-year-old woman with a heterozygous pathogenic SPG7 variant [c.1529C>T (p.Ala510Val)], and evidence of muscle disease as well as chronic cerebral vasculopathy.

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Authors

Bukola Olarewaju - School of Science and Engineering, University of Dundee

Ehab Harahsheh - Department of Neurology, Mayo Clinic

Khaled Dweik - Department of Neurology, Mayo Clinic

Judy Tejon - Department of Clinical Genomics, Mayo Clinic

Shaymaa Shurrab - Division of Genetics/Metabolics, McMaster University

Stephen Johnson - Department of Neurology, Mayo Clinic

Dimitar Gavrilov - Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic

Mayowa Osundiji - Mayo Clinic

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Copyright (c) 2025 Acta Myologica

How to Cite
Olarewaju, B., Harahsheh, E., Dweik, K., Tejon, J., Shurrab, S., Johnson, S., Gavrilov, D., & Osundiji, M. (2025). 3-Methyl Glutaconic Aciduria and Elevated Plasma Growth Differentiation Factor 15 Level in an Adult with Monoallelic SPG7 Pathogenic Variant. Acta Myologica, 44(4). Retrieved from https://www.actamyologica.it/article/view/1593
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