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

scholarly journals Cerebrospinal Fluid Biomarkers in Clinical Subtypes of Early-Onset Alzheimer's Disease

2013 ◽  
Vol 37 (5-6) ◽  
pp. 307-314 ◽  
Author(s):  
Edmond Teng ◽  
Tritia R. Yamasaki ◽  
Michelle Tran ◽  
Julia J. Hsiao ◽  
David L. Sultzer ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Cerebrospinal Fluid ◽  
Early Onset ◽  
Cerebrospinal Fluid Biomarkers ◽  
Early Onset Alzheimer’S Disease

O1-04-06: Elevated cerebrospinal fluid amyloid-Beta42 levels in young adults at genetic risk for early-onset alzheimer's disease

2011 ◽  
Vol 7 ◽  
pp. S102-S103 ◽  
Author(s):  
Eric Reiman ◽  
Carlos Velez-Pardo ◽  
Marelene Jimenez del Rio ◽  
Margarita Giraldo ◽  
Natalia Acosta-Baena ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Cerebrospinal Fluid ◽  
Young Adults ◽  
Genetic Risk ◽  
Early Onset ◽  
Early Onset Alzheimer’S Disease

scholarly journals Emerging cerebrospinal fluid biomarkers in autosomal dominant Alzheimer's disease

2019 ◽  
Vol 15 (5) ◽  
pp. 655-665 ◽  
Author(s):  
Suzanne E. Schindler ◽  
Yan Li ◽  
Kaitlin W. Todd ◽  
Elizabeth M. Herries ◽  
Rachel L. Henson ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Cerebrospinal Fluid ◽  
Autosomal Dominant ◽  
Autosomal Dominant Alzheimer’S Disease ◽  
Cerebrospinal Fluid Biomarkers

scholarly journals A Case of Early-Onset Alzheimer's Disease with MAPT P301L Mutation and Literature Review

2022 ◽  
Author(s):  
Jia Li ◽  
Jingqi Feng ◽  
Hang Su ◽  
Jiajun Chen
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Cerebrospinal Fluid ◽  
Early Onset ◽  
Clinical Case ◽  
Heterozygous Mutation ◽  
Mapt Gene ◽  
Early Onset Alzheimer’S Disease ◽  
Disease Related Genes ◽  
P301l Mutation

Abstract Background: Early-onset Alzheimer's disease is defined as Parkinson's disease that begins at an age of 65 or younger. Currently, among the reports on early-onset Alzheimer's disease related genes, mutations of APP, PSEN1 and PSEN2 genes are relatively common, However, the mutation of MAPT P301L causes early-onset Alzheimer's disease, which has not been reported so far. Case report: We have found a clinical case of a 30-year-old male who suddenly developed cognitive impairment and progressed rapidly within 2 years, leaving him unable to take care of himself. The patient underwent examinations of blood and cerebrospinal fluid routine, biochemistry and immunoassay, as well as imaging examinations of MRI, FDGPET and PIBPET. PIB-PET indicated diffuse heterogeneous radionuclivity in cerebral cortex, and positive PIB imaging was considered. Sequencing results suggested that there was a heterozygous mutation in the MAPT gene of the patient, which was located in Chr17-44087755, and c.902C>T. Conclusion: We speculated that EOAD of this patient may be related to the P301L mutation on MAPT.

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