Rauan Kaiyrzhanov, Juan Darío Ortigoza-Escobar, Brett W Stringer, Manizha Ganieva, Vykuntaraju K Gowda, Varunvenkat M Srinivasan, Alfons Macaya, Andreas Laner, Enas Onbool, Randa Al-Shammari, Mohammed Al-Owain, Nicolas Deconinck, Catheline Vilain, Pauline Dontaine, Eleanor Self, Rabia Akram, Ghulam Hussain, Shahid Mahmood Baig, Javed Iqbal, Vincenzo Salpietro, Maedeh Neshatdoust, Mahboubeh Kasiri, Gozde Yesil, Turkan Uygur, Karen Pysden, Ian R Berry, Cesar Augusto Alves, Jean Giacomotto, Henry Houlden, Reza Maroofian
BACKGROUND: Based on a limited number of reported families, biallelic CA8 variants have currently been associated with a recessive neurological disorder named, cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 (CAMRQ-3). OBJECTIVES: We aim to comprehensively investigate CA8-related disorders (CA8-RD) by reviewing existing literature and exploring neurological, neuroradiological, and molecular observations in a cohort of newly identified patients...
April 6, 2024: Movement Disorders: Official Journal of the Movement Disorder Society