C9orf72 Repeat Expansion Frequency among Patients with Huntington Disease Genetic Testing

Conclusion: These findings suggest thatC9orf72 repeat expansion does not coexist withHTT repeat expansion and thatC9orf72 repeat expansion testing is unnecessary for patients with HD. In addition,C9orf72 evaluation may be considered for individuals negative for HD genetic testing. Similar to in previous studies, methylation ofC9orf72 repeat expansion was limited to large expansions.Neurodegener Dis 2018;18:239 –253
Source: Neurodegenerative Diseases - Category: Neurology Source Type: research