A novel presenilin 1 missense mutation (L153V) segregating with early-onset autosomal dominant Alzheimer's disease

2000 ◽  
Vol 16 (1) ◽  
pp. 95-95 ◽  
Author(s):  
G. Raux ◽  
R. Gantier ◽  
C. Martin ◽  
Y. Pothin ◽  
A. Brice ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Missense Mutation ◽  
Early Onset ◽  
Autosomal Dominant ◽  
Presenilin 1 ◽  
Autosomal Dominant Alzheimer’S Disease

Probable Novel PSEN1 Gln222Leu Mutation in a Chinese Family with Early-Onset Alzheimer's Disease

2019 ◽  
Vol 16 (8) ◽  
pp. 764-769 ◽  
Author(s):  
Huayuan Wang ◽  
Ruihua Sun ◽  
Yingying Shi ◽  
Mingrong Xia ◽  
Jing Zhao ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Missense Mutation ◽  
Early Onset ◽  
Sanger Sequencing ◽  
Pathogenic Mutation ◽  
Presenilin 1 ◽  
Chinese Family ◽  
Whole Exome ◽  
Early Onset Alzheimer’S Disease

Background: The rate of occurrence of Alzheimer’s disease is increasing around the world. However, there is still no significant breakthrough in the study of its etiology and pathogenesis. Objective: To screen Alzheimer's disease pathogenic genes, which may be conducive to the elucidation of the pathogenic mechanisms of Alzheimer's disease And predict the pathogenicity by various computer software. Method: Clinical and neuroimaging examination, Whole Exome Sequencing, and Sanger sequencing were performed in the proband. Mutation sites were verified in 158 subjects. Results: We reported a proband carrying a probably novel pathogenic mutation, which clinically manifests as progressive memory loss, visual-spatial disorders, apraxia, psychobehavioral disorders, and temperamental and personality changes. Whole Exome Sequencing detected a novel missense mutation at codon 222 (Q222L), which is a heterozygous A to T point mutation at position 665 (c.665A>T) in exon 5 of the presenilin 1 leading to a glutamine-to-leucine substitution. The mutation was also identified by Sanger sequencing in one family member; nevertheless, it was not detected in the other 7 unaffected family members, 50 sporadic Alzheimer's disease patients and 100 control subjects. Conclusion: A novel mutation in exon 5 of the presenilin 1 gene (Gln222Leu) in a Chinese family with early-onset Alzheimer’s disease has been reported, besides， it was predicted that the missense mutation was probably a novel pathogenic mutation that was reported for the first time in a Chinese family with early-onset Alzheimer’s disease.

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

Global Cardiovascular Risk Profile and Cerebrovascular Abnormalities in Presymptomatic Individuals with CADASIL or Autosomal Dominant Alzheimer’s Disease

2021 ◽  
pp. 1-13
Author(s):  
Dorothee Schoemaker ◽  
Lina Velilla ◽  
Yesica Zuluaga ◽  
Ana Baena ◽  
Carolina Ospina ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Cardiovascular Risk ◽  
Vascular Dementia ◽  
Early Onset ◽  
Autosomal Dominant ◽  
Risk Profile ◽  
Cardiovascular Risk Profile ◽  
Global Cardiovascular Risk ◽  
Autosomal Dominant Alzheimer’S Disease

Background: Cardiovascular risk factors increase the risk of developing dementia, including Alzheimer’s disease and vascular dementia. Objective: Studying individuals with autosomal dominant mutations leading to the early onset of dementia, this study examines the effect of the global cardiovascular risk profile on early cognitive and neuroimaging features of Alzheimer’s disease and vascular dementia. Methods: We studied 85 non-demented and stroke-free individuals, including 20 subjects with Presenilin1 (PSEN1) E280A mutation leading to the early onset of autosomal dominant Alzheimer’s disease (ADAD), 20 subjects with NOTCH3 mutations leading to cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and to the early onset of vascular dementia, and 45 non-affected family members (non-carriers). All subjects underwent clinical and neuropsychological evaluations and an MRI. The global cardiovascular risk profile was estimated using the office-based Framingham Cardiovascular Risk Profile (FCRP) score. Results: In individuals with CADASIL, a higher FCRP score was associated with a reduced hippocampal volume (B = –0.06, p <  0.05) and an increased severity of cerebral microbleeds (B = 0.13, p <  0.001), lacunes (B = 0.30, p <  0.001), and perivascular space enlargement in the basal ganglia (B = 0.50, p <  0.05). There was no significant association between the FCRP score and neuroimaging measures in ADAD or non-carrier subjects. While the FCRP score was related to performance in executive function in non-carrier subjects (B = 0.06, p <  0.05), it was not significantly associated with cognitive performance in individuals with CADASIL or ADAD. Conclusion: Our results suggest that individuals with CADASIL and other forms of vascular cognitive impairment might particularly benefit from early interventions aimed at controlling cardiovascular risks.

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