scholarly journals Early-Onset Autosomal Dominant Alzheimer Disease: Prevalence, Genetic Heterogeneity, and Mutation Spectrum

1999 ◽  
Vol 65 (3) ◽  
pp. 664-670 ◽  
Author(s):  
Dominique Campion ◽  
Cécile Dumanchin ◽  
Didier Hannequin ◽  
Bruno Dubois ◽  
Serge Belliard ◽  
...  
Keyword(s):  
Alzheimer Disease ◽  
Genetic Heterogeneity ◽  
Early Onset ◽  
Autosomal Dominant ◽  
Disease Prevalence ◽  
Mutation Spectrum

scholarly journals High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease

2012 ◽  
Vol 17 (9) ◽  
pp. 875-879 ◽  
Author(s):  
C Pottier ◽  
◽  
D Hannequin ◽  
S Coutant ◽  
A Rovelet-Lecrux ◽  
...  
Keyword(s):  
Alzheimer Disease ◽  
High Frequency ◽  
Early Onset ◽  
Autosomal Dominant

scholarly journals PKD2 -Related Autosomal Dominant Polycystic Kidney Disease: Prevalence, Clinical Presentation, Mutation Spectrum, and Prognosis

2017 ◽  
Vol 70 (4) ◽  
pp. 476-485 ◽  
Author(s):  
Emilie Cornec-Le Gall ◽  
Marie-Pierre Audrézet ◽  
Eric Renaudineau ◽  
Maryvonne Hourmant ◽  
Christophe Charasse ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Clinical Presentation ◽  
Disease Prevalence ◽  
Mutation Spectrum ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney

scholarly journals A Novel Mutation ofSMAD3Identified in a Chinese Family with Aneurysms-Osteoarthritis Syndrome

2015 ◽  
Vol 2015 ◽  
pp. 1-6
Author(s):  
Wenwen Zhang ◽  
Min Zhou ◽  
Cheng Liu ◽  
Chen Liu ◽  
Tong Qiao ◽  
...  
Keyword(s):  
Signal Transduction ◽  
Early Onset ◽  
Autosomal Dominant ◽  
Novel Mutation ◽  
Mutation Spectrum ◽  
Chinese Family ◽  
Phenotype Correlation ◽  
Autosomal Dominant Disorder ◽  
Arterial Tree ◽  
Craniofacial Features

Aneurysms-osteoarthritis syndrome (AOS) is a recently delineated autosomal dominant disorder characterized by aneurysms, dissections, and tortuosity throughout the arterial tree in association with early onset osteoarthritis, mild craniofacial features, and skeletal and cutaneous anomalies. Previous studies have demonstrated that mutations inSMAD3, a key regulator of TGF-βsignal transduction, contribute to AOS. Here, we investigated a family of three generations affected by AOS. A novelSMAD3mutation, c.266G>A (p.C89Y), was identified and cosegregated with the affected individuals in this family. Our finding expands the mutation spectrum ofSMAD3gene and further strengthens the connection between the presence of aneurysms-osteoarthritis phenotype andSMAD3mutations, which facilitates the understanding of the genotype-phenotype correlation of AOS.

The French Series of Autosomal Dominant Early Onset Alzheimer's Disease Cases: Mutation Spectrum and Cerebrospinal Fluid Biomarkers

2012 ◽  
Vol 30 (4) ◽  
pp. 847-856 ◽  
Author(s):  
David Wallon ◽  
Stéphane Rousseau ◽  
Anne Rovelet-Lecrux ◽  
Muriel Quillard-Muraine ◽  
Lucie Guyant-Maréchal ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Cerebrospinal Fluid ◽  
Early Onset ◽  
Autosomal Dominant ◽  
Mutation Spectrum ◽  
Cerebrospinal Fluid Biomarkers ◽  
Early Onset Alzheimer’S Disease

APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy

2005 ◽  
Vol 38 (1) ◽  
pp. 24-26 ◽  
Author(s):  
Anne Rovelet-Lecrux ◽  
Didier Hannequin ◽  
Gregory Raux ◽  
Nathalie Le Meur ◽  
Annie Laquerrière ◽  
...  
Keyword(s):  
Alzheimer Disease ◽  
Cerebral Amyloid Angiopathy ◽  
Early Onset ◽  
Autosomal Dominant ◽  
Amyloid Angiopathy ◽  
Cerebral Amyloid
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