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October 3, 2024Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Alteration in ornithine metabolism due to mutation in ALDH18A1 masquerading as ALS in pregnancy

Suzanne Quigley Brian McNamara Simon Cronin

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Abstract

Clinical onset and exacerbation of autosomal dominant SPG9A hereditary spastic paraplegia, including reversible wasting, has been described during pregnancy. SPG9A is due to

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Quigley et al. (2024) studied this question.

synapsesocial.com/papers/68e55ee7e2b3180350efbf36 https://doi.org/10.1080/21678421.2024.2410982

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Novel missense ALDH18A1 variant in a family with autosomal dominant spastic paraplegia2025
2P5CS expression study in a new family with ALDH18A1 ‐associated hereditary spastic paraplegia SPG9Original Research · 2019 · 20 citations
3Whole-exome sequencing reveals a novel frameshift and a recurrent nonsense SPG11 variant causing rare familial amyotrophic lateral sclerosis type 5 in two consanguineous Pakistani familiesOriginal Research · 2026
4Adenosine Deaminase-Mediated Purine Dysfunction Leads to DNA Repair Inhibition and Senescence in Sporadic Amyotrophic Lateral SclerosisOriginal Research · 2026
5Antisense Dipeptide Repeat Proteins Drive Widescale Purine Metabolism Aberration in C9orf72 Amyotrophic Lateral Sclerosis via ADAOriginal Research · 2026 · 2 citations

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Hereditary spastic paraparesis type 18 (SPG18): new ERLIN2 variants in a series of Italian patients, shedding light upon genetic and phenotypic variability2024
Increased susceptibility to 4-HNE-induced toxicity and impaired development in a model of ALDH4A1-deficient pediatric epilepsy carrying the S352L variant2026
A novel homozygous splice-site mutation in ALPL (c.863–2 A > G) causes severe perinatal hypophosphatasia in an Iranian family2026

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