C9orf72 Repeat Expansion Frequency among Patients with Huntington Disease Genetic Testing.

CONCLUSION: These findings suggest that C9orf72 repeat expansion does not coexist with HTT repeat expansion and that C9orf72 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 of C9orf72 repeat expansion was limited to large expansions. PMID: 30336474 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/30336474?dopt=Abstract

Source: Neuro-Degenerative Diseases - October 18, 2018 Category: Neurology Authors: Ida CM, Butz ML, Lundquist PA, Dawson DB Tags: Neurodegener Dis Source Type: research