Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia.
Rauan KaiyrzhanovJuan Dario Ortigoza-EscobarBrett W StringerManizha GanievaVykuntaraju K GowdaVarunvenkat M SrinivasanAlfons MacayaAndreas LanerEnas OnboolRanda Al-ShammariMohammed Al-OwainNicolas DeconinckCatheline VilainPauline DontaineEleanor SelfRabia AkramGhulam HussainShahid Mahmood BaigJaved IqbalVincenzo SalpietroMaedeh NeshatdoustMahboubeh KasiriGozde Yesil SayınTurkan UygurKaren PysdenIan R BerryCesar Augusto AlvesJean GiacomottoHenry HouldenReza MaroofianPublished in: Movement disorders : official journal of the Movement Disorder Society (2024)
Our comprehensive analysis of phenotypic features indicates that CA8-RD exhibits a wide range of clinical manifestations, setting it apart from other subtypes within the category of CAMRQ. CA8-RD is characterized by cerebellar atrophy and should be recognized as part of the autosomal-recessive cerebellar ataxias associated with NDD. Notably, the presence of progressive superior vermis atrophy serves as a valuable diagnostic indicator. © 2024 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.