An algorithm for genetic testing of frontotemporal lobar degeneration

被引：50

作者：

Goldman, J. S. ^{[1
]}

Rademakers, R. ^{[2
]}

Huey, E. D. ^{[1
]}

Boxer, A. L. ^{[3
]}

Mayeux, R. ^{[1
]}

Miller, B. L. ^{[3
]}

Boeve, B. F. ^{[4
]}

机构：

[1] Columbia Univ, Med Ctr, Taub Inst Res Alzheimers Dis & Aging Brain, New York, NY 10032 USA

[2] Mayo Clin, Dept Neurosci, Jacksonville, FL 32224 USA

[3] Univ Calif San Francisco, Dept Neurol, Memory & Aging Ctr, San Francisco, CA 94143 USA

[4] Mayo Clin, Dept Neurol, Rochester, MN USA

来源：

NEUROLOGY | 2011年 / 76卷 / 05期

关键词：

AMYOTROPHIC-LATERAL-SCLEROSIS; PROGRANULIN MUTATION CARRIERS; MOTOR-NEURON DISEASE; TAU GENE; DEMENTIA; FTDP-17; CHROMOSOME-17; PHENOTYPE; MAPT; CONSENSUS;

D O I：

10.1212/WNL.0b013e31820a0d13

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Objective: To derive an algorithm for genetic testing of patients with frontotemporal lobar degeneration (FTLD). Methods: A literature search was performed to review the clinical and pathologic phenotypes and family history associated with each FTLD gene. Results: Based on the literature review, an algorithm was developed to allow clinicians to use the clinical and neuroimaging phenotypes of the patient and the family history and autopsy information to decide whether or not genetic testing is warranted, and if so, the order for appropriate tests. Conclusions: Recent findings in genetics, pathology, and imaging allow clinicians to use the clinical presentation of the patient with FTLD to inform genetic testing decisions. Neurology (R) 2011;76:475-483

引用

页码：475 / 483

页数：9

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