[Huntington chorea: perspective changes in presymptomatic diagnosis (updating synthetic review)].
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.
Borri
G
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Divisione Neurologica Lancisi, Ospedale S. Camillo, Roma.
D005072:Evoked Potentials, Auditory; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis; D006801:Humans; D006816:Huntington Disease / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology / Q000523:psychology; D008297:Male; D009484:Neuropsychology; D011247:Pregnancy; D011296:Prenatal Diagnosis
La Corea di Huntington: cambiamento di prospettiva nella diagnosi presintomatica (Rassegna sintetica di aggiornamento).