A novel presenilin 1 mutation, I202F occurring at a previously predicted pathogenic site causing autosomal dominant Alzheimer's disease

2011 ◽  
Vol 32 (3) ◽  
pp. 556.e1-556.e2 ◽  
Author(s):  
Alistair Church ◽  
Junita Prescott ◽  
Suzanne Lillis ◽  
Janice Rees ◽  
Patrick Chance ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Autosomal Dominant ◽  
Presenilin 1 ◽  
Autosomal Dominant Alzheimer’S Disease ◽  
Presenilin 1 Mutation

Early-onset familial Alzheimer’s disease related to presenilin 1 mutation resembling autosomal dominant spinocerebellar ataxia

2013 ◽  
Vol 260 (4) ◽  
pp. 1177-1179 ◽  
Author(s):  
Pedro Braga-Neto ◽  
José Luiz Pedroso ◽  
Helena Alessi ◽  
Paulo Victor Sgobbi de Souza ◽  
Paulo Henrique Ferreira Bertolucci ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Spinocerebellar Ataxia ◽  
Early Onset ◽  
Autosomal Dominant ◽  
Presenilin 1 ◽  
Familial Alzheimer’S Disease ◽  
Presenilin 1 Mutation ◽  
Familial Alzheimer's Disease ◽  
Autosomal Dominant Spinocerebellar Ataxia

scholarly journals Clinical, pathophysiological and genetic features of motor symptoms in autosomal dominant Alzheimer’s disease

Brain ◽  
2019 ◽  
Vol 142 (5) ◽  
pp. 1429-1440 ◽  
Author(s):  
Jonathan Vöglein ◽  
Katrina Paumier ◽  
Mathias Jucker ◽  
Oliver Preische ◽  
Eric McDade ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Basal Ganglia ◽  
Autosomal Dominant ◽  
Motor Symptoms ◽  
Autosomal Dominant Alzheimer’S Disease ◽  
Genetic Features ◽  
Presenilin 1 Mutation ◽  
Sporadic Disease ◽  
Disease Stages

Aβ deposition in the basal ganglia is common in autosomal dominant Alzheimer’s disease. Vöglein et al. report an increased severity of motor symptoms in autosomal dominant versus sporadic disease in advanced disease stages. Motor symptoms are more severe in post-codon 200 presenilin 1 mutation carriers and correlate with basal ganglia Aβ.

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