The C9orf72 hexanucleotide repeat expansion presents a challenge for testing laboratories and genetic counseling
Sign Up to like & getrecommendations! Published in 2019 at "Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration"
DOI: 10.1080/21678421.2019.1588904
Abstract: Abstract C9orf72 hexanucleotide repeat expansions are the most common known cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Genetic testing for C9orf72 expansions in patients with ALS and/or FTD and their relatives has… read more here.
Keywords: repeat; testing laboratories; c9orf72; c9orf72 hexanucleotide ... See more keywords
Secondary mania as a possible presentation of a C9orf72 hexanucleotide repeat expansion.
Sign Up to like & getrecommendations! Published in 2019 at "Bipolar disorders"
DOI: 10.1111/bdi.12724
Abstract: C9Orf72 hexanucelotide repeat expansions have been associated with ALS and FTD. Although various psychiatric symptoms have been described in patients with C9Orf72 hexanucleotide repeat expansions, the full clinical spectrum has not yet been elucidated. There… read more here.
Keywords: c9orf72 hexanucleotide; repeat; secondary mania; hexanucleotide repeat ... See more keywords