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Fig. 1 | Alzheimer's Research & Therapy

Fig. 1

From: Early presentation of spastic paraparesis in individuals carrying PSEN1 mutations: a clinical and genetic analysis

Fig. 1

PSEN1 variants associated with spastic paraparesis. (A) A diagram displays PSEN1 variants associated with spastic paraparesis. The four variants associated with spastic paraparesis as the initial manifestation in previous studies were labeled in green. The two variants identified in this cohort are labeled in red. (B and C) Genetic analysis of the families with PSEN1-related spastic paraparesis in the present study. Pedigrees of the two families harboring the heterozygous PSEN1 c.1157T > C (p.F386S) and c.850 C > T (p.P284S) variants, respectively. Sanger sequencing traces shown below the pedigrees confirmed the heterozygous PSEN1 c.1157T > C (p.F386S) and c.850 C > T (p.P284S) variants in patients Q397 (proband, arrowhead) and R963 (proband, arrowhead).The “mt” represents a variant PSEN1 allele, and the “wt” refers to a wild-type allele. Open symbol, unaffected; filled symbol, affected; symbol with a diagonal line, deceased; square, males; circle, females; arrow, the proband

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Alzheimer's Research & Therapy

ISSN: 1758-9193