A New ELOVL4 Mutation in a Case of Spinocerebellar Ataxia With Erythrokeratodermia

Expanding the Clinical Phenotype Associated With<i>ELOVL4</i>Mutation: Study of a Large French-Canadian Family With Autosomal Dominant Spinocerebellar Ataxia and Erythrokeratodermia

Cadieux-Dion, M., Turcotte-Gauthier, M., Noreau, A., Martin, C., Meloche, C., Gravel, M., Drouin, C. A., Rouleau, G. A., Nguyen, D. K., & Cossette, P. (2014) · JAMA Neurology · doi:10.1001/jamaneurol.2013.6337 · Cited by 124 · see citing works

ELOVL5 Mutations Cause Spinocerebellar Ataxia 38

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Retinal Degenerative Diseases

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Erythrokeratodermia With Ataxia

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A novel recessive mutation in the gene ELOVL4 causes a neuro-ichthyotic disorder with variable expressivity

Mir, H., Raza, S. I., Touseef, M., Memon, M. M., Khan, M. N., Jaffar, S., & Ahmad, W. (2014) · BMC Medical Genetics · doi:10.1186/1471-2350-15-25 · Cited by 37 · see citing works

Focus on Molecules: ELOVL4

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Docosanoids and elovanoids from omega-3 fatty acids are pro-homeostatic modulators of inflammatory responses, cell damage and neuroprotection

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Spinocerebellar ataxia: relationship between phenotype and genotype – a review

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Novel Cellular Functions of Very Long Chain-Fatty Acids: Insight From ELOVL4 Mutations

Deák, F., Anderson, R. E., Fessler, J. L., & Sherry, D. M. (2019) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2019.00428 · Cited by 110 · see citing works

Elovanoids are novel cell-specific lipid mediators necessary for neuroprotective signaling for photoreceptor cell integrity

Jun, B., Mukherjee, P. K., Asatryan, A., Kautzmann, M.-A., Heap, J., Gordon, W. C., Bhattacharjee, S., Yang, R., Petasis, N. A., & Bazan, N. G. (2017) · Scientific Reports · doi:10.1038/s41598-017-05433-7 · Cited by 80 · see citing works

ELOVL4: Very long-chain fatty acids serve an eclectic role in mammalian health and function

Hopiavuori, B. R., Anderson, R. E., & Agbaga, M. (2018) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2018.10.004 · Cited by 78 · see citing works

Very long chain fatty acid-containing lipids: A decade of novel insights from the study of ELOVL4.

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Parkinsonism and Related Disorders

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The Geographic Diversity of Spinocerebellar Ataxias (SCAs) in the Americas: A Systematic Review

Teive, H. A. G., Meira, A. T., Camargo, C. H. F., & Munhoz, R. P. (2019) · Movement Disorders Clinical Practice · doi:10.1002/mdc3.12822 · Cited by 49 · see citing works

Homozygous Expression of Mutant ELOVL4 Leads to Seizures and Death in a Novel Animal Model of Very Long-Chain Fatty Acid Deficiency

Hopiavuori, B. R., Deák, F., Wilkerson, J. L., Brush, R. S., Rocha-Hopiavuori, N. A., Hopiavuori, A. R., Ozan, K. G., Sullivan, M. T., Wren, J. D., Georgescu, C., et al. (2017) · Molecular Neurobiology · doi:10.1007/s12035-017-0824-8 · Cited by 41 · see citing works

Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38)

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Regional changes in CNS and retinal glycerophospholipid profiles with age: a molecular blueprint

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Distribution of ELOVL4 in the developing and adult mouse brain

Sherry, D. M., Hopiavuori, B. R., Stiles, M. A., Rahman, N. S., Ozan, K. G., Deak, F., Agbaga, M.-P., & Anderson, R. E. (2017) · Frontiers in Neuroanatomy · doi:10.3389/fnana.2017.00038 · Cited by 38 · see citing works

Motor Deficits and Cerebellar Atrophy in Elovl5 Knock Out Mice

Hoxha, E., Gabriele, R. M. C., Balbo, I., Ravera, F., Masante, L., Zambelli, V., Albergo, C., Mitro, N., Caruso, D., Gregorio, E. D., et al. (2017) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2017.00343 · Cited by 34 · see citing works

Novel ELOVL4 mutation associated with erythrokeratodermia and spinocerebellar ataxia (SCA 34)

Bourque, P. R., Warman‐Chardon, J., Lelli, D. A., LaBerge, L., Kirshen, C., Bradshaw, S. H., Hartley, T., & Boycott, K. M. (2018) · Neurology Genetics · doi:10.1212/nxg.0000000000000263 · Cited by 33 · see citing works

A family with spinocerebellar ataxia and retinitis pigmentosa attributed to an ELOVL4 mutation

Xiao, C., Binkley, E. M., Rexach, J. E., Knight-Johnson, A., Khemani, P., Fogel, B. L., Das, S., Stone, E. M., & Gomez, C. M. (2019) · Neurology Genetics · doi:10.1212/nxg.0000000000000357 · Cited by 33 · see citing works

Characterization of the phenotype with cognitive impairment and protein mislocalization in SCA34

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Prevalence and clinicoradiological features of spinocerebellar ataxia type 34 in a Japanese ataxia cohort

Ozaki, K., Ansai, A., Nobuhara, K., Araki, T., Kubodera, T., Ishii, T., Higashi, M., Sato, N. J., Soga, K., Mizusawa, H., et al. (2019) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2019.05.019 · Cited by 31 · see citing works

Overview of how N32 and N34 elovanoids sustain sight by protecting retinal pigment epithelial cells and photoreceptors

Bazan, N. G. (2020) · Journal of Lipid Research · doi:10.1194/jlr.tr120001137 · Cited by 26 · see citing works

The ELOVL proteins: Very and ultra long-chain fatty acids at the crossroads between metabolic and neurodegenerative disorders.

Ferrero, E., Vaz, F. M., Cheillan, D., Brusco, A., & Marelli, C. (2025) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2025.109050 · Cited by 24 · see citing works

ELOVL4 Mutations That Cause Spinocerebellar Ataxia-34 Differentially Alter Very Long Chain Fatty Acid Biosynthesis

Gyening, Y. K., Chauhan, N. K., Tytanic, M., Ea, V. L., Brush, R. S., & Agbaga, M. (2022) · Journal of Lipid Research · doi:10.1016/j.jlr.2022.100317 · Cited by 19 · see citing works

Therapeutic Role of ELOVL in Neurological Diseases

Siddiqui, A. J., Jahan, S., Chaturvedi, S., Siddiqui, M. A., Alshahrani, M. M., Abdelgadir, A., Hamadou, W. S., Saxena, J., Sundararaj, B. K., Snoussi, M., et al. (2023) · ACS Omega · doi:10.1021/acsomega.3c00056 · Cited by 19 · see citing works

The Elovl4 Spinocerebellar Ataxia-34 Mutation 736T>G (p.W246G) Impairs Retinal Function in the Absence of Photoreceptor Degeneration

Agbaga, M., Stiles, M. A., Brush, R. S., Sullivan, M. T., Machalinski, A. H., Jones, K. L., Anderson, R. E., & Sherry, D. M. (2020) · Molecular Neurobiology · doi:10.1007/s12035-020-02052-8 · Cited by 18 · see citing works

W246G Mutant ELOVL4 Impairs Synaptic Plasticity in Parallel and Climbing Fibers and Causes Motor Defects in a Rat Model of SCA34

Nagaraja, R., Sherry, D. M., Fessler, J. L., Stiles, M. A., Li, F., Multani, K. S., Orock, A., Ahmad, M., Brush, R., Anderson, R. E., et al. (2021) · Molecular Neurobiology · doi:10.1007/s12035-021-02439-1 · Cited by 14 · see citing works

Neuropathology of SCA34 showing widespread oligodendroglial pathology with vacuolar white matter degeneration: a case study

Ozaki, K., Irioka, T., Uchihara, T., Yamada, A., Nakamura, A., Majima, T., Igarashi, S., Shintaku, H., Yakeishi, M., Tsuura, Y., et al. (2021) · Acta Neuropathologica Communications · doi:10.1186/s40478-021-01272-w · Cited by 13 · see citing works

Congenital Ichthyosis in a Case of Spinocerebellar Ataxia Type 34: A Novel Presentation for a Known Mutation

Haeri, G., Akhoundi, F. H., Alavi, A., Ghiasi, M., Munhoz, R. P., & Rohani, M. (2020) · Movement Disorders Clinical Practice · doi:10.1002/mdc3.13123 · Cited by 11 · see citing works

Elovl5 Expression in the Central Nervous System of the Adult Mouse

Balbo, I., Montarolo, F., Boda, E., Tempia, F., & Hoxha, E. (2021) · Frontiers in Neuroanatomy · doi:10.3389/fnana.2021.669073 · Cited by 9 · see citing works

Effects of the administration of Elovl5-dependent fatty acids on a spino-cerebellar ataxia 38 mouse model

Balbo, I., Montarolo, F., Genovese, F., Tempia, F., & Hoxha, E. (2022) · Behavioral and Brain Functions · doi:10.1186/s12993-022-00194-4 · Cited by 8 · see citing works

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, M. L., Nguyen, D. K., & Michaud, J. (2023) · Acta Neuropathologica · doi:10.1007/s00401-023-02582-0 · Cited by 8 · see citing works

A novel ELOVL4 variant, L168S, causes early childhood-onset Spinocerebellar ataxia-34 and retinal dysfunction: a case report

Gyening, Y. K., Keren, B., Mignot, C., Brush, R. S., Nassogne, M., & Agbaga, M. (2023) · Acta Neuropathologica Communications · doi:10.1186/s40478-023-01628-4 · Cited by 8 · see citing works

Expanding the allelic spectrum of ELOVL4‐related autosomal recessive neuro‐ichthyosis

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Incomplete Elongation of Ultra-long-chain Polyunsaturated Acyl-CoAs by the Fatty Acid Elongase ELOVL4 in Spinocerebellar Ataxia Type 34

Tamura, Y., Sassa, T., Nishizawa, T., & Kihara, A. (2023) · Molecular and Cellular Biology · doi:10.1080/10985549.2023.2169563 · Cited by 7 · see citing works

Rare mutation in ELOVL4 gene in SCA34 and cognitive affection: Expounding the role of cerebellum

Mukherjee, S., Roy, M., Ghosh, S., Guha, G., Saha, S. P., & Dalal, A. B. (2021) · Clinical Neurology and Neurosurgery · doi:10.1016/j.clineuro.2021.106983 · Cited by 4 · see citing works

ELOVL4 with erythrokeratoderma: A pediatric case and emerging genodermatosis

Croitoru, D. O., Lu, J. D., Lara‐Corrales, I., Kannus, P., & Pope, E. (2021) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.62136 · Cited by 3 · see citing works

Progressive symmetric erythrokeratodermia with spinocerebellar ataxia due to ELOVL4 mutation in a Chinese family

Wang, Z., Lin, Z., & Wang, H. (2021) · Indian Journal of Dermatology Venereology and Leprology · doi:10.25259/ijdvl_488_20 · Cited by 3 · see citing works

The Spinocerebellar Ataxia 34-Causing W246G ELOVL4 Mutation Does Not Alter Cerebellar Neuron Populations in a Rat Model

Fessler, J. L., Stiles, M. A., Agbaga, M., Ahmad, M., & Sherry, D. M. (2024) · The Cerebellum · doi:10.1007/s12311-024-01708-8 · Cited by 1 · see citing works

Potential Clinical Benefit of Very Long Chain Fatty Acid Supplementation in Spinocerebellar Ataxia Type 34

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Acral collodion membrane associated with ichthyosis due to a heterozygous pathogenic variant of ELOVL4 gene

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Ataxia Phenomenology

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Additional file 2 of Neuropathology of SCA34 showing widespread oligodendroglial pathology with vacuolar white matter degeneration: a case study

Ozaki, K., Irioka, T., Uchihara, T., Yamada, A., Nakamura, A., Majima, T., Igarashi, S., Shintaku, H., Yakeishi, M., Tsuura, Y., et al. (2021) · Figshare · doi:10.6084/m9.figshare.16864978

Additional file 1 of Neuropathology of SCA34 showing widespread oligodendroglial pathology with vacuolar white matter degeneration: a case study

Ozaki, K., Irioka, T., Uchihara, T., Yamada, A., Nakamura, A., Majima, T., Igarashi, S., Shintaku, H., Yakeishi, M., Tsuura, Y., et al. (2021) · Figshare · doi:10.6084/m9.figshare.16864975

Identification de nouveaux gènes d'ataxies récessives syndromiques : implication des désordres métaboliques modérés

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A previously unreported ELOVL4 frameshift variant in a patient with early severe cognitive decline, parkinsonism, and cerebellar ataxia

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Clinical characteristics of four patients with ERCC4 mutations manifesting ataxia phenotype

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Étude clinique et génétique d'une nouvelle forme d'ataxie spinocérébelleuse pure associée à l'Érythrokératodermie

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Ataxia with vitamin E deficiency with a mutation in a phospholipid transfer protein gene

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A Family with Spinocerebellar Ataxia and Retinitis Pigmentosa Attributed to a Novel ELOVL4 Mutation (P6.035)

Xiao, C., Binkley, E. M., Rexach, J. E., Knight-Johnson, A., Khemani, P., Fogel, B. L., Das, S., Stone, E. M., & Gomez, C. M. (2018) · Neurology · doi:10.1212/wnl.90.15_supplement.p6.035

Spinocerebellar Ataxia 48 Patient With a Novel De Novo Variant of STUB1

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