Borri G
Divisione Neurologica Lancisi, Ospedale S. Camillo, Roma.
Riv Neurol. 1989 Nov-Dec;59(6):223-8.
With the advent of recombinant DNA techniques and the identification of closely linked DNA markers, it is now possible to determine whether at-risk subjects have inherited the Huntington's disease (HD) gene. Since the presymptomatic testing is only applicable to those at-risk subjects with diagnosed genetic haplotype segregating with HD in their families, neurologists, neuropsychologists and neurophysiologists purpose to correlate clinical evidences and genetic data. At the present time using neuropsychological tests, nonspecific abnormalities have been observed in visuospatial abilities, memory and in functions associated with the frontal lobes; still the general reduction of visual evoked potential amplitude has to be considered a very interesting finding in the at-risk subjects with probability of having inherited the HD gene.
随着重组DNA技术的出现以及紧密连锁DNA标记的识别，现在有可能确定高危个体是否遗传了亨廷顿舞蹈病（HD）基因。由于症状前检测仅适用于那些在其家族中已诊断出与HD分离的遗传单倍型的高危个体，神经科医生、神经心理学家和神经生理学家旨在将临床证据与遗传数据相关联。目前，通过神经心理学测试，已在视觉空间能力、记忆以及与额叶相关的功能中观察到非特异性异常；然而，在有可能遗传了HD基因的高危个体中，视觉诱发电位幅度的普遍降低仍被认为是一个非常有趣的发现。
