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ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.
TLDR
Results suggest that the pathway involving the enzyme encoded by ALDH18A1 (Δ1-pyrroline-5-carboxylate synthase, P5CS) is deficient, and it is shown that the enzymatic activity linked to one of the dominant mutations is deficient.
Δ1‐Pyrroline‐5‐carboxylate synthetase deficiency: An emergent multifaceted urea cycle‐related disorder
TLDR
It is concluded that two neurocutaneous syndromes (recessive and dominant cutis laxa 3, abbreviated ARCL3A and ADCL3, respectively) and two SPG9 syndrome are caused by essentially different spectra of ALDH18A1 mutations, which represent a continuum of increasing severity.
P5CS expression study in a new family with ALDH18A1‐associated hereditary spastic paraplegia SPG9
TLDR
It is concluded that both mutations are disease‐causing, that SPG9B associates with partial P5CS deficiency and that it is clinically more severe than SPG 9A, as reflected in onset age, disability, cognitive status, growth, and dysmorphic traits.