A Novel Mutation in ELOVL4 Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia: A Broadened Spectrum of SCA34.
Ozaki K, Doi H, Mitsui J, Sato N, Iikuni Y, Majima T, Yamane K, Irioka T, Ishiura H, Doi K, Morishita S, Higashi M, Sekiguchi T, Koyama K, Ueda N, Miura Y, Miyatake S, Matsumoto N, Yokota T, Tanaka F, Tsuji S, Mizusawa H, Ishikawa K.
A novel ELOVL4 variant, L168S, causes early childhood-onset Spinocerebellar ataxia-34 and retinal dysfunction: a case report.
Gyening YK, Boris K, Cyril M, Brush RS, Nassogne MC, Agbaga MP.
Acta Neuropathol Commun. 2023 Aug 11;11(1):131. doi: 10.1186/s40478-023-01628-4.
PMID:37568198
SCA34 caused by ELOVL4 L168F mutation is a lysosomal lipid storage disease sharing pathology features with neuronal ceroid lipofuscinosis and peroxisomal disorders.
Ellezam B, Kaseka ML, Nguyen DK, Michaud J.
Acta Neuropathol. 2023 Aug;146(2):337-352. doi: 10.1007/s00401-023-02582-0. Epub 2023 May 15.
PMID:37184663
Synapse-Specific Defects in Synaptic Transmission in the Cerebellum of W246G Mutant ELOVL4 Rats-a Model of Human SCA34.
Nagaraja RY, Stiles MA, Sherry DM, Agbaga MP, Ahmad M.