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

被引:100
|
作者
Wallon, David [2 ,3 ,4 ]
Rousseau, Stephane [2 ,3 ,4 ]
Rovelet-Lecrux, Anne [2 ,3 ,4 ]
Quillard-Muraine, Muriel [5 ]
Guyant-Marechal, Lucie [3 ,4 ]
Martinaud, Olivier [3 ,4 ]
Pariente, Jeremie [6 ,7 ]
Puel, Michele [6 ,7 ]
Rollin-Sillaire, Adeline [3 ,4 ,8 ]
Pasquier, Florence [3 ,4 ,8 ]
Le Ber, Isabelle [3 ,4 ,9 ]
Sarazin, Marie [3 ,4 ,9 ]
Croisile, Bernard [10 ]
Boutoleau-Bretonniere, Claire [11 ]
Thomas-Anterioni, Catherine [12 ]
Paquet, Claire [13 ,14 ]
Moreaud, Olivier [15 ]
Gabelle, Audrey [16 ]
Sellal, Francois [17 ]
Sauvee, Mathilde [18 ]
Laquerriere, Annie [19 ]
Duyckaerts, Charles [20 ]
Delisle, Marie-Bernadette [21 ]
Streichenberger, Nathalie [22 ,23 ]
Lannes, Beatrice [24 ]
Frebourg, Thierry [2 ]
Hannequin, Didier [2 ,3 ,4 ]
Campion, Dominique [1 ,2 ,3 ,4 ]
机构
[1] CHU, Inserm U1079, Fac Med, F-76183 Rouen, France
[2] Fac Med Pharm, Rouen, France
[3] Lille Univ Hosp, Rouen Univ Hosp, CNR MAJ, Paris, France
[4] Paris Salpetriere Univ Hosp, Paris, France
[5] Rouen Univ Hosp, Biochem Lab, Rouen, France
[6] Purpan Univ Hosp, Dept Neurol, CMRR, Toulouse, France
[7] Purpan Univ Hosp, INSERM U825, Toulouse, France
[8] Univ Lille Nord France, Deparment Neurol, CHU, EA1046, Lille Nord, France
[9] Univ Hosp Pitie Salpetriere, AP HP, UMR S975, IM2A,CRCICM, Paris, France
[10] Grp Hosp Est, Univ Hosp, CMRR, Dept Neuropsychol, Bron, France
[11] Nantes Univ Hosp, CMRR, Dept Neurol, Nantes, France
[12] Univ Hosp N, CMRR, Dept Neurol, St Etienne, France
[13] Univ Paris 07, Lariboisiere Univ Hosp, CMRR N, F-75221 Paris 05, France
[14] Univ Paris 07, INSERM U839, F-75221 Paris 05, France
[15] Grenoble Univ Hosp, CMRR, Grenoble, France
[16] Montpellier Univ Hosp, Gui de Chauliac Hosp, CMRR, Montpellier, France
[17] CMRR Hop Civils Colmar, Dept Neurol, Colmar, France
[18] Nancy Univ Hosp, CMRR, Dept Neurol, Nancy, France
[19] Rouen Univ Hosp, Neuropathol Lab, Rouen, France
[20] Univ Hosp Pitie Salpetriere, CRCICM AP HP, Escourolle Neuropathol Lab, Paris, France
[21] Rangueil Univ Hosp, Neuropathol Lab, Toulouse, France
[22] Univ Lyon, CNRS UMR 5292, INSERM U1028, Lyon, France
[23] Univ Lyon, Neuropathol Lab, Lyon, France
[24] Hautpierre Hosp, Dept Pathol, Strasbourg, France
关键词
Alzheimer's disease; A beta PP; CSF biomarkers; early-onset; genetics; PSEN1; PSEN2; PRESENILIN-1; MUTATION; SPASTIC PARAPARESIS; VARIABLE PHENOTYPE; APP DUPLICATION; BETA-DEPOSITION; GENE-MUTATIONS; DEMENTIA; DIAGNOSIS; ASSOCIATION; FAMILY;
D O I
10.3233/JAD-2012-120172
中图分类号
Q189 [神经科学];
学科分类号
071006 ;
摘要
We describe 56 novel autosomal dominant early-onset Alzheimer disease (ADEOAD) families with PSEN1, PSEN2, and A beta PP mutations or duplications, raising the total of families with mutations on known genes to 111 (74 PSEN1, 8 PSEN2, 16 A beta PP, and 13 A beta PP duplications) in the French series. In 33 additional families (23% of the series), the genetic determinism remained uncharacterized after this screening. Cerebrospinal fluid (CSF) biomarker levels were obtained for patients of 58 families (42 with known mutations and 16 without genetic characterization). CSF biomarkers profile was consistent with an AD diagnosis in 90% of families carrying mutations on known genes. In families without mutation, CSF biomarkers were consistent with AD diagnosis in 14/16 cases. Overall, these results support further genetic heterogeneity in the determinism of ADEOAD and suggest that other major genes remain to be characterized.
引用
收藏
页码:847 / 856
页数:10
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