Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University Medical Center, 630 W. 168th St., Box 16, New York, NY 10032, USA.
Neurology. 2011 Feb 1;76(5):475-83. doi: 10.1212/WNL.0b013e31820a0d13.
To derive an algorithm for genetic testing of patients with frontotemporal lobar degeneration (FTLD).
A literature search was performed to review the clinical and pathologic phenotypes and family history associated with each FTLD gene.
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.
Recent findings in genetics, pathology, and imaging allow clinicians to use the clinical presentation of the patient with FTLD to inform genetic testing decisions.
为额颞叶变性(FTLD)患者的基因检测制定算法。
进行文献检索,以回顾与每个 FTLD 基因相关的临床和病理表型以及家族史。
根据文献复习,制定了一个算法,使临床医生能够使用患者的临床和神经影像学表型以及家族史和尸检信息来决定是否需要进行基因检测,如果需要,应进行哪些适当的检测。
遗传学、病理学和影像学的最新发现使临床医生能够根据 FTLD 患者的临床表现来做出基因检测决策。