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A GABBR2 gene variant modifies pathophysiology in Huntington’s disease

April L. Philpott,Paul B. Fitzgerald,Neil W. Bailey,Andrew Churchyard,Nellie Georgiou-Karistianis,Tarrant D.R. Cummins

Neuroscience Letters（2016）

Cited 7|Views14
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Abstract
•Genetic modifiers of pathophysiology in HD have not been previously investigated.•SNP mapping of GABA and dopamine receptor genes was performed in 29HD participants.•A putatively functional GABBR2 variant was associated with cortical excitability.•GABBR2, GABRA2 and DRD2 SNPs were associated with pathophysiology and age at onset.•Uncovering genetic modifiers helps to identify novel targets for clinical trials.
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Key words
Transcranial magnetic stimulation,Single-nucleotide polymorphism,GABA,Dopamine,Cortical excitability,Age at onset
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