Abstract
Introduction
The ALDH18A1 gene, encoding delta-1-pyrroline-5-carboxylate synthase (P5CS), is responsible for an autosomal recessive disease with severe developmental delay; more recently, ALDH18A1 was found to be responsible for SPG9, an autosomal dominant (AD) spastic paraplegia.
Case report
We report a three-generation family with AD SPG9, initially suspected because of low citrulline on fasting plasma amino acid chromatography (AAC). Interestingly, in two patients, the spastic paraplegia appeared during pregnancy. One subject presented a severe childhood-onset form while another subject had a mild late-onset disease.
Conclusion
The description of this family is of particular interest: it highlights the possibility of transient or permanent aggravation of spastic paraplegia due to SPG9 during pregnancy, suggesting a direct link between neurological symptoms and amino acid defect in a period of higher requirements and the potential benefit of amino acid supplementation; it underscores the value of plasma citrulline on fasting plasma AAC as a biomarker for this disease; it shows the variable expression of the disease.
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Acknowledgments
We would like to thank all the members of the family.
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CM received honorary travel to attend scientific meetings from Biomarin and Actelion Pharmaceuticals and honorary for consultant activity (Biomarin); SB, SG, LL, WC, MP, MK, and CG have nothing to disclose.
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The paper was written in accordance with the Helsinki Declaration (2013). A written consentement for genetic analysis and research was obtained from each participant.
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Marelli, C., Badiou, S., Genestet, S. et al. Autosomal dominant SPG9: intrafamilial variability and onset during pregnancy. Neurol Sci 41, 1931–1933 (2020). https://doi.org/10.1007/s10072-020-04341-5
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DOI: https://doi.org/10.1007/s10072-020-04341-5