Read the Case-Based Curriculum for Neurology Residents.

II,
Case
A 26 year old man sought neurological consultation to determine whether he was
at risk for developing Huntington's disease (HD). His mother was found to have HD
twelve years ago at the age of 38 and now was profoundly demented and living in a
nursing home. The mother's father and paternal aunt had died of HD several decades
earlier. The patient had no symptoms of HD, but, like his two asymptomaric younger
sisters, he was anxious about the possibiliry of developing HD.
Upon funher evaluation, the patient informed the neurologist that he was engaged
to be maried but that his prospecrive inJaws strongly opposed rhe marriage unless the
patient underwent genetic testing and was found nor to have the HD gene. The patient
expressed cenainty that he could nor possibly carry the gene because he felt normal and
had no symptoms. Nevenheless, he was ambivalent about undergoing genetic testing
because he was not sure he really wanted to know for cenain whether he was destined to
develop HD.
The results of neurological examination were entirely normal. The neurologist
informed the patienr that rhere was no way of knowing with cenainty whether he was
destined to develop HD excepr by performing the genetic tesr. yer the neurologisr was
uncenain about how to proceed in this case because it was the prospective in-laws rather
than the patient who were most eager for him to undergo genetic testing for
presympromatic idenrifi cation of HD.