Alternative name(s) : NODRS
Gene_locus : 1
Mutation : 7
OMIM : 614015
Comment
Seven unique DAGLA variants identified in nine children from eight families. All variants lead to premature protein truncation proximally in the final exon and disrupt multiple predicted phosphorylation sites and a protein-protein interaction domain with HOMER scaffolding proteins. Mutations where outside the alpha/beta hydrolase domain and had no effect on DAGLA enzymatic activity. The defect could be du to mis-localized DAGLA. Patients showed a neuro-ocular phenotype characterized by developmental delay, ataxia, and complex oculomotor abnormality with paroxysms of nystagmus or eye deviation accompanied by compensatory head posture and worsened incoordination most frequently after waking.
| Title : Identification of DAGLA as an autoantibody target in cerebellar ataxia - Miske_2024_J.Neurol.Neurosurg.Psychiatry__ |
| Author(s) : Miske R , Scharf M , Borowski K , Specht I , Corty M , Loritz MJ , Rombach F , Laureys G , Rochow N , Radzimski C , Schnitter L , Ratuszny D , Skripuletz T , Wattjes MP , Hahn S , Denno Y , Guerti K , Oyaert M , Benkhadra F , Bien CI , Nitsch S , Wandinger KP , van Pesch V , Probst C , Teegen B , Komorowski L , Suhs KW |
| Ref : Journal of Neurology Neurosurg Psychiatry , : , 2024 |
| Abstract : |
| PubMedSearch : Miske_2024_J.Neurol.Neurosurg.Psychiatry__ |
| PubMedID: 38663995 |
| Gene_locus related to this paper: human-DAGLA |
| Title : Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome (NODRS) - Bainbridge_2022_Brain__ |
| Author(s) : Bainbridge MN , Mazumder A , Ogasawara D , Abou Jamra R , Bernard G , Bertini E , Burglen L , Cope H , Crawford A , Derksen A , Dure L , Gantz E , Koch-Hogrebe M , Hurst ACE , Mahida S , Marshall P , Micalizzi A , Novelli A , Peng H , Rodriguez D , Robbins SL , Rutledge SL , Scalise R , Schliesske S , Shashi V , Srivastava S , Thiffault I , Topol S , Qebibo L , Wieczorek D , Cravatt B , Haricharan S , Torkamani A , Friedman J |
| Ref : Brain , : , 2022 |
| Abstract : |
| PubMedSearch : Bainbridge_2022_Brain__ |
| PubMedID: 35737950 |
| Gene_locus related to this paper: human-DAGLA |