%0 Journal Article
%T Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders.
%A Ortigoza-Escobar JD
%A Zamani M
%A Dorison N
%A Sadeghian S
%A Azizimalamiri R
%A Alvi JR
%A Sultan T
%A Galehdari H
%A Shariati G
%A Saberi A
%A Leeuwen L
%A Zifarelli G
%A Bauer P
%A d'Hardemare V
%A Doummar D
%A Roze E
%A Travaglini L
%A Nicita F
%A Ojea Ponce N
%A Zahraei SM
%A Alabdi L
%A Tamim A
%A Hashem MO
%A Ababneh F
%A Morrow MM
%A Curry C
%A Tam A
%A Ruedy J
%A Bhambhani V
%A Veith R
%A Strømme P
%A Efthymiou S
%A Alkuraya FS
%A Moreno-De-Luca A
%A Burglen L
%A Houlden H
%A Maroofian R
%J Mov Disord
%V 0
%N 0
%D 2024 Jun 20
%M 38899514
%F 9.698
%R 10.1002/mds.29883
%X <B>BACKGROUND: </B>Biallelic ZBTB11 variants have previously been associated with an ultrarare subtype of autosomal recessive intellectual developmental disorder (MRT69).<BR><B>OBJECTIVE: </B>The aim was to provide insights into the clinical and genetic characteristics of ZBTB11-related disorders (ZBTB11-RD), with a particular emphasis on progressive complex movement abnormalities.<BR><B>METHODS: </B>Thirteen new and 16 previously reported affected individuals, ranging in age from 2 to 50 years, with biallelic ZBTB11 variants underwent clinical and genetic characterization.<BR><B>RESULTS: </B>All patients exhibited a range of neurodevelopmental phenotypes with varying severity, encompassing ocular and neurological features. Eleven new patients presented with complex abnormal movements, including ataxia, dystonia, myoclonus, stereotypies, and tremor, and 7 new patients exhibited cataracts. Deep brain stimulation was successful in treating 1 patient with generalized progressive dystonia. Our analysis revealed 13 novel variants.<BR><B>CONCLUSIONS: </B>This study provides additional insights into the clinical features and spectrum of ZBTB11-RD, highlighting the progressive nature of movement abnormalities in the background of neurodevelopmental phenotype. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.