Alternative name(s) : Spastic paraplegia 86, autosomal recessive\; SPG86, SPG86
Gene_locus : human-ABHD16A
Mutation : 9 mutations Q279X_human-ABHD16A R114X_human-ABHD16A R457Q_human-ABHD16A R445X_human-ABHD16A L409R_human-ABHD16A R118H_human-ABHD16A N121I_human-ABHD16A R252Q_human-ABHD16A T192QfsX25_human-ABHD16A
Comment
ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies (Lemire et al. 2021\; Yahia et al. 2021\; Miyake 2021)| Title : A homozygous ABHD16A variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face - Miyake_2021_Clin.Genet__ |
| Author(s) : Miyake N , Silva S , Troncoso M , Okamoto N , Andachi Y , Kato M , Iwabuchi C , Hirose M , Fujita A , Uchiyama Y , Matsumoto N |
| Ref : Clin Genet , : , 2021 |
| Abstract : Miyake_2021_Clin.Genet__ |
| ESTHER : Miyake_2021_Clin.Genet__ |
| PubMedSearch : Miyake_2021_Clin.Genet__ |
| PubMedID: 34866177 |
| Gene_locus related to this paper: human-ABHD16A |
| Title : ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies - Lemire_2021_Am.J.Hum.Genet__ |
| Author(s) : Lemire G , Ito YA , Marshall AE , Chrestian N , Stanley V , Brady L , Tarnopolsky M , Curry CJ , Hartley T , Mears W , Derksen A , Rioux N , Laflamme N , Hutchison HT , Pais LS , Zaki MS , Sultan T , Dane AD , Gleeson JG , Vaz FM , Kernohan KD , Bernard G , Boycott KM |
| Ref : American Journal of Human Genetics , : , 2021 |
| Abstract : Lemire_2021_Am.J.Hum.Genet__ |
| ESTHER : Lemire_2021_Am.J.Hum.Genet__ |
| PubMedSearch : Lemire_2021_Am.J.Hum.Genet__ |
| PubMedID: 34587489 |
| Gene_locus related to this paper: human-ABHD16A |
| Title : Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia - Yahia_2021_Front.Neurol_12_720201 |
| Author(s) : Yahia A , Elsayed LEO , Valter R , Hamed AAA , Mohammed IN , Elseed MA , Salih MA , Esteves T , Auger N , Abubaker R , Koko M , Abozar F , Malik H , Adil R , Emad S , Musallam MA , Idris R , Eltazi IZM , Babai A , Ahmed EAA , Abd Allah ASI , Mairey M , Ahmed A , Elbashir MI , Brice A , Ibrahim ME , Ahmed AE , Lamari F , Stevanin G |
| Ref : Front Neurol , 12 :720201 , 2021 |
| Abstract : Yahia_2021_Front.Neurol_12_720201 |
| ESTHER : Yahia_2021_Front.Neurol_12_720201 |
| PubMedSearch : Yahia_2021_Front.Neurol_12_720201 |
| PubMedID: 34489854 |
| Gene_locus related to this paper: human-ABHD16A |