De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.
Liedewei Van de VondelJonathan De WinterDanique BeijerGiulia CoarelliMelanie WayandRobin PalvadeauMartje G PaulyKatrin KleinMaren RautenbergLéna Guillot-NoëlTine DeconinckAtay VuralSibel ErtanOkan DoguHIlmi UysalVesna BrankovicRebecca HerzogAlexis BriceAlexandra DurrStephan KlebeFriedrich StockAlmut Turid BischoffTim W RattayMaría-Jesús SobridoGiovanna De MichelePeter De JongheThomas KlopstockKatja LohmannGinevra ZanniFilippo M SantorelliVincent TimmermanTobias B HaackStephan Züchnernull nullRebecca SchüleGiovanni StevaninMatthis SynofzikAyse Nazli BasakJonathan BaetsPublished in: Movement disorders : official journal of the Movement Disorder Society (2022)
We show that SPTAN1 is a relevant candidate gene for ataxia and spastic paraplegia. We suggest that for the mutations identified in this study, disruption of the interlinking of spectrin helices could be a key feature of the pathomechanism. © 2022 International Parkinson and Movement Disorder Society.