An algorithm for genetic testing of frontotemporal lobar degeneration

作者：Goldman J S^*; Rademakers R; Huey E D; Boxer A L; Mayeux R; Miller B L; Boeve B F

来源：Neurology, 2011, 76(5): 475-483.

DOI：10.1212/WNL.0b013e31820a0d13

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

• 出版日期2011-2-1