Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome
Salih MA, Seidahmed MZ, Khashab H, Hamad MH, Bosley TM, Burn S, Myers A, Landsverk ML, Crotwell PL, Bilguvar K, Mane S, Kruer MC. Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome. Tremor And Other Hyperkinetic Movements 2015, 5: 306. PMID: 26203402, PMCID: PMC4502426, DOI: 10.7916/d8d21wq0.Peer-Reviewed Original ResearchMacular cherry-red spotsChildhood-onset choreaCherry-red spotWhole-exome sequencingMacular findingsProgressive choreaIntractable seizuresHomozygous missense mutationNeurodegenerative courseProfound hypotoniaRare formVolitional movementPhenotypic spectrumChoreaExome sequencingGM2 gangliosidosisHyperacusisPatientsSaudi familyNeurodegenerative disease genesMissense mutationsDisease-associated genesGangliosidosisHomozygosity mappingVariant phenotypes