The neurogenetics of atypical parkinsonian disorders.
The neurogenetics of atypical parkinsonian disorders.
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DOI：
10.1055/s-0034-1381738
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发表时间：
2014-04
影响因子：
2.7
通讯作者：
Geschwind DH
中科院分区：
文献类型：
--
作者：
Fogel BL;Clark MC;Geschwind DH
虽然经典的帕金森病是最常见的与帕金森氏症的临床特征有关的疾病，但实际上有更广泛的疾病范围，表现为一系列表型相似的神经退行性疾病，模仿其许多核心特征。这些非典型帕金森病最常见的包括进行性核上性瘫痪和皮质基底膜变性，与额颞叶痴呆相关的疾病，以及多系统萎缩和路易体痴呆。虽然这些疾病的临床区分对医生来说仍然是一个挑战，但遗传学的最新进展已经准备好梳理这些差异。对这些疾病背后的分子病因的洞察将提高诊断水平，更好地了解潜在的疾病病理，并最终为潜在治疗的开发提供刺激。同时，从单个基因的突变中观察到的广泛的表型保证了DNA测序的进步促进了广泛的测试。这些不断扩展的基因组方法，从使用下一代测序来识别致病或风险相关的基因变异，到研究将人类遗传学与环境因素联系起来的表观遗传修饰，都将把该领域带入一个新的发现时代。
Although classic Parkinson disease is the disorder most commonly associated with the clinical feature of parkinsonism, there is in fact a broader spectrum of disease represented by a collection of phenotypically similar neurodegenerative conditions which mimic many of its core features. These atypical parkinsonian disorders most commonly include progressive supranuclear palsy and corticobasal degeneration, disorders both associated with frontotemporal dementia, as well as multiple system atrophy, and dementia with Lewy bodies. While clinical distinction of these disorders still remains a challenge to physicians, recent advances in genetics are poised to tease apart the differences. Insights into the molecular etiologies underlying these conditions will improve diagnosis, yield better understanding of the underlying disease pathology, and ultimately lend stimulation to the development of potential treatments. At the same time, the wide range of phenotypes observed from mutations in a single gene warrants broad testing facilitated by advances in DNA sequencing. These expanding genomic approaches, ranging from the use of next-generation sequencing to identify causative or risk-associated gene variations to the study of epigenetic modification linking human genetics to environmental factors, are poised to lead the field into a new age of discovery.
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影响因子：
16.2
作者：
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通讯作者：
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影响因子：
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16.2
作者：
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通讯作者：
Rademakers R