BACKGROUND AND PURPOSE: We report a novel mutation in exon 8 of the presenilin 1 (PSEN1) gene (V261L) associated with early-onset autosomal dominant Alzheimer's disease and spastic paraparesis. METHODS AND RESULTS: The proband was a woman who developed insidious cognitive decline with predominant memory loss and gait disorder secondary to spasticity at the age of 40. Her brother and her mother had a similar disease in the fifth decade of life. The feature of amnestic presentation with spastic paraparesis is consistent with the majority of mutations in the exon 8 of the PSEN1 1 gene. CONCLUSIONS: Screening for PSEN1 mutations is especially likely to be productive when directed toward persons with positive family history and with age at onset of under 60.
BACKGROUND AND PURPOSE: We report a novel mutation in exon 8 of the presenilin 1 (PSEN1) gene (V261L) associated with early-onset autosomal dominant Alzheimer's disease and spastic paraparesis. METHODS AND RESULTS: The proband was a woman who developed insidious cognitive decline with predominant memory loss and gait disorder secondary to spasticity at the age of 40. Her brother and her mother had a similar disease in the fifth decade of life. The feature of amnestic presentation with spastic paraparesis is consistent with the majority of mutations in the exon 8 of the PSEN1 1 gene. CONCLUSIONS: Screening for PSEN1 mutations is especially likely to be productive when directed toward persons with positive family history and with age at onset of under 60.
Authors: Allen Chi-Shing Yu; Aldrin Kay-Yuen Yim; Anne Yin-Yan Chan; Liz Y P Yuen; Wing Chi Au; Timothy H T Cheng; Xiao Lin; Jing-Woei Li; Larry W L Chan; Vincent C T Mok; Ting-Fung Chan; Ho Yin Edwin Chan Journal: Front Neurosci Date: 2019-12-11 Impact factor: 4.677
Authors: Juliana Acosta-Uribe; David Aguillón; Francisco Lopera; Kenneth S Kosik; J Nicholas Cochran; Margarita Giraldo; Lucía Madrigal; Bradley W Killingsworth; Rijul Singhal; Sarah Labib; Diana Alzate; Lina Velilla; Sonia Moreno; Gloria P García; Amanda Saldarriaga; Francisco Piedrahita; Liliana Hincapié; Hugo E López; Nithesh Perumal; Leonilde Morelo; Dionis Vallejo; Juan Marcos Solano; Eric M Reiman; Ezequiel I Surace; Tatiana Itzcovich; Ricardo Allegri; Raquel Sánchez-Valle; Andrés Villegas-Lanau; Charles L White; Diana Matallana; Richard M Myers; Sharon R Browning Journal: Genome Med Date: 2022-03-08 Impact factor: 15.266