TY - JOUR

T1 - TAU mutations are not a predominant cause of frontotemporal dementia in Canadian patients

AU - Levchenko, Anastasia

AU - Robitaille, Yves

AU - Strong, Michael J.

AU - Rouleau, Guy A.

PY - 2004/1/1

Y1 - 2004/1/1

N2 - Objective: Frontotemporal dementia is a neurodegenerative disease affecting mostly the frontal and/or temporal lobes, with neuronal loss and intraneuronal and/or intraglial inclusions composed of hyperphosphorylated microtubule-associated protein tau and ubiquitin. Missense and splice site mutations in the TAU gene have been identified in approximately 15% of all frontotemporal dementia cases. In this study, we evaluated the involvement of mutations in the TAU gene in development of frontotemporal dementia phenotype in patients of French or English Canadian origins. Methods: Fourteen patients with frontotemporal dementia phenotype and 98 normal controls were recruited for the study. The TAU gene was screened by sequencing and denaturing high performance liquid chromatography. Results: No mutations, except some new polymorphisms, were detected in the TAU gene of these patients. One polymorphism, however, may play a role in pathogenesis. Conclusion: Our results agree with previous work suggesting that mutations in this gene are not a frequent cause of the frontotemporal dementia phenotype in Canadian patients.

AB - Objective: Frontotemporal dementia is a neurodegenerative disease affecting mostly the frontal and/or temporal lobes, with neuronal loss and intraneuronal and/or intraglial inclusions composed of hyperphosphorylated microtubule-associated protein tau and ubiquitin. Missense and splice site mutations in the TAU gene have been identified in approximately 15% of all frontotemporal dementia cases. In this study, we evaluated the involvement of mutations in the TAU gene in development of frontotemporal dementia phenotype in patients of French or English Canadian origins. Methods: Fourteen patients with frontotemporal dementia phenotype and 98 normal controls were recruited for the study. The TAU gene was screened by sequencing and denaturing high performance liquid chromatography. Results: No mutations, except some new polymorphisms, were detected in the TAU gene of these patients. One polymorphism, however, may play a role in pathogenesis. Conclusion: Our results agree with previous work suggesting that mutations in this gene are not a frequent cause of the frontotemporal dementia phenotype in Canadian patients.

UR - http://www.scopus.com/inward/record.url?scp=4644342222&partnerID=8YFLogxK

U2 - 10.1017/S0317167100003450

DO - 10.1017/S0317167100003450

M3 - Article

C2 - 15376481

AN - SCOPUS:4644342222

VL - 31

SP - 363

EP - 367

JO - Canadian Journal of Neurological Sciences

JF - Canadian Journal of Neurological Sciences

SN - 0317-1671

IS - 3

ER -