Figure 3 Genotype-phenotype correlation in SPG7 mutations and age at onset of symptoms Genotype-phenotype correlation in SPG7 mutations and age at onset.

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Figure 3 Genotype-phenotype correlation in SPG7 mutations and age at onset of symptoms Genotype-phenotype correlation in SPG7 mutations and age at onset of symptoms (A) Association of the position (by the functionally important regions) of the mutation and the age at onset in homozygous SPG7 cases. N terminal = up to first 140aa; FstH = 141-250aa; AAA ATpase = 306-481aa; M41 peptidase = 544-746aa; the rest = mutations in any other area(s), which is/are not described as above. We selected homozygous cases because of the uniformity they create by harboring 2 similarly, mutated alleles, to compare the effect of the mutation within functionally important domains of the SPG7 protein on the age at onset. One-way analysis of variance with multiple comparisons and post hoc Tukey test showed a significantly (p = 0.034) younger age at onset (14.63 years, SE 5.25, 95% confidence interval: 0.82–28.4) for those with homozygous mutations in the M41 peptidase domain compared to a mutational position in a functionally undefined domain (“the rest”). (B) The c.1529C>T common mutation when in the homozygous state is associated with a significantly later age at onset than when in the compound heterozygous state. (C)1529C>T patients provide a degree of mutational homogeneity, in that at least 1 allele is constant allowing comparison between homozygous and compound heterozygous states. Compound heterozygotes developed symptoms on average 5.4 years earlier than the c.1529C>T homozygotes (p = 0.022, independent samples t test for equality of mean values with equal variances assumed). Channa A. Hewamadduma et al. Neurol Genet 2018;4:e279 Copyright © 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.