Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

Kaiyrzhanov, R., Rad, A., Lin, S.-J., Bertoli-Avella, A., Kallemeijn, W. W., Godwin, A., Zaki, M. S., Huang, K., Lau, T., Petree, C., Efthymiou, S., Karimiani, E. G., Hempel, M., Normand, E. A., Rudnik-Schöneborn, S., Schatz, U. A., Baggelaar, M. P., Ilyas, M., Sultan, T., … Maroofian, R. (2023). Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders. Brain, 147(4), 1436–1456. https://doi.org/10.1093/brain/awad380
Authors:
Rauan Kaiyrzhanov
Aboulfazl Rad
Sheng-Jia Lin
Aida Bertoli-Avella
Wouter W Kallemeijn
Annie Godwin
Maha S Zaki
Kevin Huang
Tracy Lau
Cassidy Petree
Stephanie Efthymiou
Ehsan Ghayoor Karimiani
Maja Hempel
Elizabeth A Normand
Sabine Rudnik-Schöneborn
Ulrich A Schatz
Marc P Baggelaar
Muhammad Ilyas
Tipu Sultan
Javeria Raza Alvi
Manizha Ganieva
Ben Fowler
Ruxandra Aanicai
Gulsen Akay Tayfun
Abdulaziz Al Saman
Abdulrahman Alswaid
Nafise Amiri
Nilufar Asilova
Vorasuk Shotelersuk
Patra Yeetong
Matloob Azam
Meisam Babaei
Gholamreza Bahrami Monajemi
Pouria Mohammadi
Saeed Samie
Selina Husna Banu
Jorge Pinto Basto
Fanny Kortüm
Mislen Bauer
Peter Bauer
Christian Beetz
Masoud Garshasbi
Awatif Hameed Issa
Wafaa Eyaid
Hind Ahmed
Narges Hashemi
Kazem Hassanpour
Isabella Herman
Sherozjon Ibrohimov
Ban A Abdul-Majeed
Maria Imdad
Maksudjon Isrofilov
Qassem Kaiyal
Suliman Khan
Brian Kirmse
Janet Koster
Charles Marques Lourenço
Tadahiro Mitani
Oana Moldovan
David Murphy
Maryam Najafi
Davut Pehlivan
Maria Eugenia Rocha
Vincenzo Salpietro
Miriam Schmidts
Adel Shalata
Mohammad Mahroum
Jawabreh Kassem Talbeya
Robert W Taylor
Dayana Vazquez
Annalisa Vetro
Hans R Waterham
Mashaya Zaman
Tina A Schrader
Wendy K Chung
Renzo Guerrini
James R Lupski
Joseph Gleeson
Mohnish Suri
Yalda Jamshidi
Kailash P Bhatia
Barbara Vona
Michael Schrader
Mariasavina Severino
Matthew Guille
Edward W Tate
Gaurav K Varshney
Henry Houlden
Reza Maroofian
Affiliated Authors:
Wendy K Chung
Columbia Affiliation:
Subjects:
Peroxisome Proliferator-Activated Receptors (OpenAlex Topic)
Ubiquitin-Proteasome Proteolytic Pathway (OpenAlex Topic)
Endoplasmic Reticulum Stress and Unfolded Protein Response (OpenAlex Topic)
Intellectual Disability (MeSH)
Microcephaly (MeSH)
Movement Disorders (MeSH)
Nervous System Malformations (MeSH)
Neurodevelopmental Disorders (MeSH)
Author Keywords:
acbd6
neurodegeneration
dystonia
ataxia
parkinsonism
n-myristoylation
elink
Publication Type:
Article
Unique ID:
10.1093/brain/awad380
PMID:
37951597
DOI:
10.1093/brain/awad380
Journal:
Brain
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record
View Scopus Record
View OpenAlex Record
View Web of Science Record

Record Created: