【摘 要】
:
Huntington's disease(HD)is an autosomal dominant neurodegenerative disorder caused by a CAG trinucleotide repeat expansion exceeding a threshold length(>35 repea
【机 构】
:
State Key Laboratory of Medical Neurobiology and Ministry of Education Frontiers Center for Brain Sc
论文部分内容阅读
Huntington's disease(HD)is an autosomal dominant neurodegenerative disorder caused by a CAG trinucleotide repeat expansion exceeding a threshold length(>35 repeats)in exon 1 of the huntingtin gene(HTT)[1].The age at onset is typically 40-50 years,except for a very low percentage(approximately 6%)of juvenile-onset HD patients carrying 75 or more CAG repeats;longer CAG repeats predict an earlier onset[1].The clinical features of HD vary among individuals but are typically characterized by progressive motor dysfunction,cognitive disorder,and psychiatric disturbance[1].HD patients are usually healthy before the onset,showing no diagnosable symptoms[1].
其他文献
子宫内膜异位症(EM)是一种雌激素依赖的慢性疾病,在育龄期女性中发病率达10%~15%.其病因不明,保守治疗后容易复发,难以根治,有恶变的风险.因此,EM需要长期管理.rn国内外EM诊治指
Glioma-associated microglial cells,a key component of the tumor microenvironment,play an important role in glioma progression.In this study,the mouse glioma cel
1 概述rn子痫前期(preeclampsia,PE)是以高血压为基本表现的妊娠期疾病,严重威胁母儿健康和生命.至今,没有单一的发病机制和理论能解释所有PE的发病,也没有单一的预防方法能
The microtubule-associated protein tau was identified in the neurofibrillary tangles (NFTs) of Alzheimer's disease (AD) more than 30 years ago, and its mutation
Dr.Leslie Ungerleider, who together with Mortimer Mishkin established the model of “two functionally dissociated cortical visual pathways in the primate brain
Dissecting inter-regional connectivity at the cellular level is a key step towards understanding the functional oper-ation scheme of a complex brain network.Lar
With the development of in vivo imaging techniques, it was discovered early in this century that microglia are highly dynamic even in the resting state [1].Howe
Parkinson disease (PD) is a progressive neurodegenerative disease characterized by the loss of dopamine neurons in the substantia nigra, resulting in striatal d
The locus coeruleus(LC)is one of the essential chemoregulatory and sleep-wake(S-W)modulating cen-ters in the brain.LC neurons remain highly active during wakefu
Neuroinflammation and α-synuclein(α-syn)aggregation are both neuropathological hallmarks of Parkinson's dis-ease(PD).Microglia are crucial participants in eli