other

CAG-CCG loss-of-interruption variant

Variant of the HTT repeat region that removes the CCG interruption next to the CAG tract, carried by a small share of Huntington disease patients and associated with earlier onset.

Known aliases

CAG-CCG LOI
loss-of-interruption variant

Relationships

No evidence-backed relationships are recorded.

Current clusters

science1 publisher

One Huntington variant concentrates very large repeat expansions in the neurons that die

Carriers of the CAG-CCG loss-of-interruption variant start having motor symptoms up to 12.5 years earlier than other Huntington patients. A UBC-led team measured the long expansions in their isolated striatal neurons, and saw no matching signal in blood.

Publishers:genengnews.com

Reality

Evidence60
Adoption: Insufficient
Hype gap+20
Incentives58
Confidence55