Neurobiol Dis 2018 Jan 2;109(Pt A):44-53. Epub 2017 Oct 2.
Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, via Gaslini 5, 16148 Genoa, Italy; Centre of Excellence for Biomedical Research (CEBR), University of Genoa, Viale Benedetto XV 9, 16132 Genoa, Italy; Medical Genetics Unit, Istituto Giannina Gaslini, via Gaslini 5, 16148 Genoa, Italy. Electronic address:
Deleterious mutations in the glutamate receptor metabotropic 1 gene (GRM1) cause a recessive form of cerebellar ataxia, SCAR13. GRM1 and GRM5 code for the metabotropic glutamate type 1 (mGlu1) and type 5 (mGlu5) receptors, respectively. Their different expression profiles suggest they could have distinct functional roles. Read More