Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.
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ABSTRACT:
SUBMITTER: Watson LM
PROVIDER: S-EPMC5591020 | biostudies-literature | 2017 Sep
REPOSITORIES: biostudies-literature
Publications
Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.
Watson Lauren M LM Bamber Elizabeth E Schnekenberg Ricardo Parolin RP Williams Jonathan J Bettencourt Conceição C Lickiss Jennifer J Jayawant Sandeep S Fawcett Katherine K Clokie Samuel S Wallis Yvonne Y Clouston Penny P Sims David D Houlden Henry H Becker Esther B E EBE Németh Andrea H AH
American journal of human genetics 20170901 3
The metabotropic glutamate receptor 1 (mGluR1) is abundantly expressed in the mammalian central nervous system, where it regulates intracellular calcium homeostasis in response to excitatory signaling. Here, we describe heterozygous dominant mutations in GRM1, which encodes mGluR1, that are associated with distinct disease phenotypes: gain-of-function missense mutations, linked in two different families to adult-onset cerebellar ataxia, and a de novo truncation mutation resulting in a dominant-n ...[more]
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