Presymptomatic tests in Huntington's disease and dominant ataxias.
Huntington's disease (HD) and dominant ataxias (SCA) represent neurodegenerative hereditary diseases dominantly transmitted for which a direct and accurate genetic test is now available for molecular confirmation and presymptomatic test. Predictive testing programs, according to published international guidelines, are available worldwide. A large number of subjects (n=165) required a predictive HD diagnosis, although only 36% completed the program flow-chart and received the final genetic result (26 had a positive, 34 negative result for mutation). In 4 cases, an allele of intermediate range (33-34 CAGs) was found. Two of these shared the intermediate allele with an expanded repeat. In this case, we estimated the patient's risk to have affected children over the usually reported 50%. In 4 cases, the presymptomatic diagnosis was requested by persons at-risk for SCA1 and SCA3/Machado-Joseph disease. There were no adverse events to results of both HD and SCA presymptomatic diagnoses.
Cannella
M
M
Department of Molecular Pathology, IRCCS INM Neuromed, Pozzilli, Italy.
Simonelli
M
M
D'Alessio
C
C
Pierelli
F
F
Ruggieri
S
S
Squitieri
F
F
D017668:Age of Onset; D004252:DNA Mutational Analysis / Q000523:psychology*; D005260:Female; D005817:Genetic Counseling / Q000523:psychology*; D005820:Genetic Testing / Q000523:psychology*; D006801:Humans; D006816:Huntington Disease / Q000235:genetics* / Q000523:psychology; D008297:Male; D009483:Neuropsychological Tests / Q000592:standards*; D010353:Patient Education as Topic / Q000592:standards*; D011237:Predictive Value of Tests; D020754:Spinocerebellar Ataxias / Q000235:genetics* / Q000523:psychology; D019680:Trinucleotide Repeat Expansion / Q000235:genetics