Rüb Udo, Vonsattel Jean Paul V, Heinsen Helmut, Korf Horst-Werner
Dr. Senckenbergisches Chronomedizinisches Institut, Goethe University Frankfurt, Frankfurt, Germany.
Medical Center Neurological Institute, Columbia University, New York, NY, USA.
Adv Anat Embryol Cell Biol. 2015;217:1-146.
Huntington’s disease (HD) is a severe, autosomal dominantly inherited, gradually worsening neurological disorder, the clinical features of which were first described in 1863 by Irving W. Lyon and with additional details, in 1872, by George Huntington. Progress in molecular biological research has shown that HD is caused by meiotically unstable CAG-repeats in the mutated HD gene (the so-called IT 15 gene) on chromosome 4p16.3, which encodes the mutated protein huntingtin (Htt). This monograph provides a survey of the stepwise progress in neuropathological HD research made during a time period of more than hundred years, the currently known neuropathological hallmarks of HD, as well as their pathogenic and clinical relevance. Starting with the initial descriptions of the progressive degeneration of the neostriatum (i.e., caudate nucleus and putamen) as one of the key events in HD, the worldwide practiced Vonsattel HD grading system of striatal neurodegeneration will be outlined. Correlating qualitative and quantitative neuropathological data with characteristics pertaining to the functional neuroanatomy of the human brain, subsequent chapters will highlight the latest neuropathological HD findings: the area- and layer-specifi c neuronal loss in the cerebral neo- and allocortex, the neurodegeneration of select thalamic nuclei, the affection of the cerebellar cortex and the deep cerebellar nuclei, the involvement of distinct brainstem nuclei, and the pathophysiological relevance of these pathologies for the clinical phenotype of HD. Finally, the potential pathophysiological role of axonal transport deficit
亨廷顿舞蹈症（HD）是一种严重的、常染色体显性遗传的、逐渐恶化的神经紊乱疾病，其临床特征于1863年由欧文·W·里昂首次描述，并于1872年由乔治·亨廷顿补充了更多细节。分子生物学研究进展表明，HD是由4号染色体p16.3上突变的HD基因（即所谓的IT 15基因）中减数分裂不稳定的CAG重复序列引起的，该基因编码突变蛋白亨廷顿蛋白（Htt）。本专著概述了一百多年来神经病理学HD研究的逐步进展、目前已知的HD神经病理学特征及其致病和临床相关性。从最初将新纹状体（即尾状核和壳核）的进行性退化描述为HD的关键事件之一开始，将概述全球通用的纹状体神经变性的冯·萨特HD分级系统。将定性和定量神经病理学数据与人类大脑功能神经解剖学的特征相关联，后续章节将重点介绍最新的神经病理学HD研究结果：大脑新皮质和旧皮质特定区域和层的神经元丢失、特定丘脑核的神经变性、小脑皮质和小脑深部核团的病变、不同脑干核团的受累情况，以及这些病变对HD临床表型的病理生理相关性。最后，轴突运输缺陷的潜在病理生理作用
