ArticleNeurology. Genetics2020
Characterization of the phenotype with cognitive impairment and protein mislocalization in SCA34.
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Article in Neurology. Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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19 citing papers in PubMed, 33 citations in OpenAlex.
- Article
- Revisiting 'hot cross bun' sign: a multicentre MRI study of 97 patients with autopsy-confirmed multiple system atrophy.Journal of neurology, neurosurgery, and psychiatry · 2026Article
- Expanding the clinical-radiological phenotype of SCA34 and its role in the differential diagnosis of the hot cross bun sign.Journal of neurology · 2025Article
- Neurocognition, cerebellar functions and psychiatric features in spinocerebellar ataxia type 34: a case series.Frontiers in computational neuroscience · 2025Article
- The Spinocerebellar Ataxia 34-Causing W246G ELOVL4 Mutation Does Not Alter Cerebellar Neuron Populations in a Rat Model.Cerebellum (London, England) · 2024Article
- Potential Clinical Benefit of Very Long Chain Fatty Acid Supplementation in Spinocerebellar Ataxia Type 34.Cerebellum (London, England) · 2024Review
- A Review of Ocular Movement Abnormalities in Hereditary Cerebellar Ataxias.Cerebellum (London, England) · 2024Review
- Two New Families and a Literature Review of ELOVL4-Associated Spinocerebellar Ataxia Type 34.Cerebellum (London, England) · 2024Review
- Clinical and genetic analyses of a Swedish patient series diagnosed with ataxia.Journal of neurology · 2024Article
- Spinocerebellar ataxia-type 34: A case report and brief review of the literature.Radiology case reports · 2023Article
- Synapse-Specific Defects in Synaptic Transmission in the Cerebellum of W246G Mutant ELOVL4 Rats-a Model of Human SCA34.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2023Article
- A novel ELOVL4 variant, L168S, causes early childhood-onset Spinocerebellar ataxia-34 and retinal dysfunction: a case report.Acta neuropathologica communications · 2023Article
- SCA34 caused by ELOVL4 L168F mutation is a lysosomal lipid storage disease sharing pathology features with neuronal ceroid lipofuscinosis and peroxisomal disorders.Acta neuropathologica · 2023Article
- Therapeutic Role of ELOVL in Neurological Diseases.ACS omega · 2023Review
- Incomplete Elongation of Ultra-long-chain Polyunsaturated Acyl-CoAs by the Fatty Acid Elongase ELOVL4 in Spinocerebellar Ataxia Type 34.Molecular and cellular biology · 2023Article
- Hot Cross Bun Sign in Progressive Ataxia with ELOVL4 Mutation-Case Report.Movement disorders clinical practice · 2022Article
- Lipid Dyshomeostasis and Inherited Cerebellar Ataxia.Molecular neurobiology · 2022Review
- Neuropathology of SCA34 showing widespread oligodendroglial pathology with vacuolar white matter degeneration: a case study.Acta neuropathologica communications · 2021Article
- Congenital Ichthyosis in a Case of Spinocerebellar Ataxia Type 34: A Novel Presentation for a Known Mutation.Movement disorders clinical practice · 2021Article
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Authors and funding
13 authors at 1 institution in 1 country.
Marie BeaudinDepartment of Medicine (M.B., L.S., N.D.), Faculty of Medicine, Université Laval; Division of Neurosciences (M.B., L.M., N.D.), CHU de Québec - Université Laval; Clinique Interdisciplinaire de Mémoire (L.S., R.L.), CHU de Québec; Laval University Experimental Organogenesis Research Center/LOEX (C.M., L.T.-D., F.G.-L.), Division of Regenerative Medicine, CHU de Québec Research Center - Enfant-Jésus Hospital; Montreal Neurological Institute (G.H., G.A.R.), McGill University, Québec, Canada; CHU Grenoble-Alpes (L.M.), Grenoble, France; CIUSSS de la Mauricie-et-du-Centre-du-Québec (K.L.), Trois-Rivières; Centre universitaire d'ophtalmologie (A.L.), Department of Surgery, Faculty of Medicine, CHU de Québec - Université Laval; and Centre Mère-Enfant-Soleil (N.C.), Université Laval, Québec, Canada.ORCID 0000-0001-8615-4390
Leila SellamiDepartment of Medicine (M.B., L.S., N.D.), Faculty of Medicine, Université Laval; Division of Neurosciences (M.B., L.M., N.D.), CHU de Québec - Université Laval; Clinique Interdisciplinaire de Mémoire (L.S., R.L.), CHU de Québec; Laval University Experimental Organogenesis Research Center/LOEX (C.M., L.T.-D., F.G.-L.), Division of Regenerative Medicine, CHU de Québec Research Center - Enfant-Jésus Hospital; Montreal Neurological Institute (G.H., G.A.R.), McGill University, Québec, Canada; CHU Grenoble-Alpes (L.M.), Grenoble, France; CIUSSS de la Mauricie-et-du-Centre-du-Québec (K.L.), Trois-Rivières; Centre universitaire d'ophtalmologie (A.L.), Department of Surgery, Faculty of Medicine, CHU de Québec - Université Laval; and Centre Mère-Enfant-Soleil (N.C.), Université Laval, Québec, Canada.
Christian MartelDepartment of Medicine (M.B., L.S., N.D.), Faculty of Medicine, Université Laval; Division of Neurosciences (M.B., L.M., N.D.), CHU de Québec - Université Laval; Clinique Interdisciplinaire de Mémoire (L.S., R.L.), CHU de Québec; Laval University Experimental Organogenesis Research Center/LOEX (C.M., L.T.-D., F.G.-L.), Division of Regenerative Medicine, CHU de Québec Research Center - Enfant-Jésus Hospital; Montreal Neurological Institute (G.H., G.A.R.), McGill University, Québec, Canada; CHU Grenoble-Alpes (L.M.), Grenoble, France; CIUSSS de la Mauricie-et-du-Centre-du-Québec (K.L.), Trois-Rivières; Centre universitaire d'ophtalmologie (A.L.), Department of Surgery, Faculty of Medicine, CHU de Québec - Université Laval; and Centre Mère-Enfant-Soleil (N.C.), Université Laval, Québec, Canada.
Lydia Touzel-DeschênesDepartment of Medicine (M.B., L.S., N.D.), Faculty of Medicine, Université Laval; Division of Neurosciences (M.B., L.M., N.D.), CHU de Québec - Université Laval; Clinique Interdisciplinaire de Mémoire (L.S., R.L.), CHU de Québec; Laval University Experimental Organogenesis Research Center/LOEX (C.M., L.T.-D., F.G.-L.), Division of Regenerative Medicine, CHU de Québec Research Center - Enfant-Jésus Hospital; Montreal Neurological Institute (G.H., G.A.R.), McGill University, Québec, Canada; CHU Grenoble-Alpes (L.M.), Grenoble, France; CIUSSS de la Mauricie-et-du-Centre-du-Québec (K.L.), Trois-Rivières; Centre universitaire d'ophtalmologie (A.L.), Department of Surgery, Faculty of Medicine, CHU de Québec - Université Laval; and Centre Mère-Enfant-Soleil (N.C.), Université Laval, Québec, Canada.
Gabrielle HouleDepartment of Medicine (M.B., L.S., N.D.), Faculty of Medicine, Université Laval; Division of Neurosciences (M.B., L.M., N.D.), CHU de Québec - Université Laval; Clinique Interdisciplinaire de Mémoire (L.S., R.L.), CHU de Québec; Laval University Experimental Organogenesis Research Center/LOEX (C.M., L.T.-D., F.G.-L.), Division of Regenerative Medicine, CHU de Québec Research Center - Enfant-Jésus Hospital; Montreal Neurological Institute (G.H., G.A.R.), McGill University, Québec, Canada; CHU Grenoble-Alpes (L.M.), Grenoble, France; CIUSSS de la Mauricie-et-du-Centre-du-Québec (K.L.), Trois-Rivières; Centre universitaire d'ophtalmologie (A.L.), Department of Surgery, Faculty of Medicine, CHU de Québec - Université Laval; and Centre Mère-Enfant-Soleil (N.C.), Université Laval, Québec, Canada.
Laurence MartineauDepartment of Medicine (M.B., L.S., N.D.), Faculty of Medicine, Université Laval; Division of Neurosciences (M.B., L.M., N.D.), CHU de Québec - Université Laval; Clinique Interdisciplinaire de Mémoire (L.S., R.L.), CHU de Québec; Laval University Experimental Organogenesis Research Center/LOEX (C.M., L.T.-D., F.G.-L.), Division of Regenerative Medicine, CHU de Québec Research Center - Enfant-Jésus Hospital; Montreal Neurological Institute (G.H., G.A.R.), McGill University, Québec, Canada; CHU Grenoble-Alpes (L.M.), Grenoble, France; CIUSSS de la Mauricie-et-du-Centre-du-Québec (K.L.), Trois-Rivières; Centre universitaire d'ophtalmologie (A.L.), Department of Surgery, Faculty of Medicine, CHU de Québec - Université Laval; and Centre Mère-Enfant-Soleil (N.C.), Université Laval, Québec, Canada.
Kevin LacroixDepartment of Medicine (M.B., L.S., N.D.), Faculty of Medicine, Université Laval; Division of Neurosciences (M.B., L.M., N.D.), CHU de Québec - Université Laval; Clinique Interdisciplinaire de Mémoire (L.S., R.L.), CHU de Québec; Laval University Experimental Organogenesis Research Center/LOEX (C.M., L.T.-D., F.G.-L.), Division of Regenerative Medicine, CHU de Québec Research Center - Enfant-Jésus Hospital; Montreal Neurological Institute (G.H., G.A.R.), McGill University, Québec, Canada; CHU Grenoble-Alpes (L.M.), Grenoble, France; CIUSSS de la Mauricie-et-du-Centre-du-Québec (K.L.), Trois-Rivières; Centre universitaire d'ophtalmologie (A.L.), Department of Surgery, Faculty of Medicine, CHU de Québec - Université Laval; and Centre Mère-Enfant-Soleil (N.C.), Université Laval, Québec, Canada.
Andréane LavalléeDepartment of Medicine (M.B., L.S., N.D.), Faculty of Medicine, Université Laval; Division of Neurosciences (M.B., L.M., N.D.), CHU de Québec - Université Laval; Clinique Interdisciplinaire de Mémoire (L.S., R.L.), CHU de Québec; Laval University Experimental Organogenesis Research Center/LOEX (C.M., L.T.-D., F.G.-L.), Division of Regenerative Medicine, CHU de Québec Research Center - Enfant-Jésus Hospital; Montreal Neurological Institute (G.H., G.A.R.), McGill University, Québec, Canada; CHU Grenoble-Alpes (L.M.), Grenoble, France; CIUSSS de la Mauricie-et-du-Centre-du-Québec (K.L.), Trois-Rivières; Centre universitaire d'ophtalmologie (A.L.), Department of Surgery, Faculty of Medicine, CHU de Québec - Université Laval; and Centre Mère-Enfant-Soleil (N.C.), Université Laval, Québec, Canada.
Nicolas ChrestianDepartment of Medicine (M.B., L.S., N.D.), Faculty of Medicine, Université Laval; Division of Neurosciences (M.B., L.M., N.D.), CHU de Québec - Université Laval; Clinique Interdisciplinaire de Mémoire (L.S., R.L.), CHU de Québec; Laval University Experimental Organogenesis Research Center/LOEX (C.M., L.T.-D., F.G.-L.), Division of Regenerative Medicine, CHU de Québec Research Center - Enfant-Jésus Hospital; Montreal Neurological Institute (G.H., G.A.R.), McGill University, Québec, Canada; CHU Grenoble-Alpes (L.M.), Grenoble, France; CIUSSS de la Mauricie-et-du-Centre-du-Québec (K.L.), Trois-Rivières; Centre universitaire d'ophtalmologie (A.L.), Department of Surgery, Faculty of Medicine, CHU de Québec - Université Laval; and Centre Mère-Enfant-Soleil (N.C.), Université Laval, Québec, Canada.
Guy A RouleauDepartment of Medicine (M.B., L.S., N.D.), Faculty of Medicine, Université Laval; Division of Neurosciences (M.B., L.M., N.D.), CHU de Québec - Université Laval; Clinique Interdisciplinaire de Mémoire (L.S., R.L.), CHU de Québec; Laval University Experimental Organogenesis Research Center/LOEX (C.M., L.T.-D., F.G.-L.), Division of Regenerative Medicine, CHU de Québec Research Center - Enfant-Jésus Hospital; Montreal Neurological Institute (G.H., G.A.R.), McGill University, Québec, Canada; CHU Grenoble-Alpes (L.M.), Grenoble, France; CIUSSS de la Mauricie-et-du-Centre-du-Québec (K.L.), Trois-Rivières; Centre universitaire d'ophtalmologie (A.L.), Department of Surgery, Faculty of Medicine, CHU de Québec - Université Laval; and Centre Mère-Enfant-Soleil (N.C.), Université Laval, Québec, Canada.
François Gros-LouisDepartment of Medicine (M.B., L.S., N.D.), Faculty of Medicine, Université Laval; Division of Neurosciences (M.B., L.M., N.D.), CHU de Québec - Université Laval; Clinique Interdisciplinaire de Mémoire (L.S., R.L.), CHU de Québec; Laval University Experimental Organogenesis Research Center/LOEX (C.M., L.T.-D., F.G.-L.), Division of Regenerative Medicine, CHU de Québec Research Center - Enfant-Jésus Hospital; Montreal Neurological Institute (G.H., G.A.R.), McGill University, Québec, Canada; CHU Grenoble-Alpes (L.M.), Grenoble, France; CIUSSS de la Mauricie-et-du-Centre-du-Québec (K.L.), Trois-Rivières; Centre universitaire d'ophtalmologie (A.L.), Department of Surgery, Faculty of Medicine, CHU de Québec - Université Laval; and Centre Mère-Enfant-Soleil (N.C.), Université Laval, Québec, Canada.
Robert LaforceDepartment of Medicine (M.B., L.S., N.D.), Faculty of Medicine, Université Laval; Division of Neurosciences (M.B., L.M., N.D.), CHU de Québec - Université Laval; Clinique Interdisciplinaire de Mémoire (L.S., R.L.), CHU de Québec; Laval University Experimental Organogenesis Research Center/LOEX (C.M., L.T.-D., F.G.-L.), Division of Regenerative Medicine, CHU de Québec Research Center - Enfant-Jésus Hospital; Montreal Neurological Institute (G.H., G.A.R.), McGill University, Québec, Canada; CHU Grenoble-Alpes (L.M.), Grenoble, France; CIUSSS de la Mauricie-et-du-Centre-du-Québec (K.L.), Trois-Rivières; Centre universitaire d'ophtalmologie (A.L.), Department of Surgery, Faculty of Medicine, CHU de Québec - Université Laval; and Centre Mère-Enfant-Soleil (N.C.), Université Laval, Québec, Canada.ORCID 0000-0002-2031-490X
Nicolas DupréDepartment of Medicine (M.B., L.S., N.D.), Faculty of Medicine, Université Laval; Division of Neurosciences (M.B., L.M., N.D.), CHU de Québec - Université Laval; Clinique Interdisciplinaire de Mémoire (L.S., R.L.), CHU de Québec; Laval University Experimental Organogenesis Research Center/LOEX (C.M., L.T.-D., F.G.-L.), Division of Regenerative Medicine, CHU de Québec Research Center - Enfant-Jésus Hospital; Montreal Neurological Institute (G.H., G.A.R.), McGill University, Québec, Canada; CHU Grenoble-Alpes (L.M.), Grenoble, France; CIUSSS de la Mauricie-et-du-Centre-du-Québec (K.L.), Trois-Rivières; Centre universitaire d'ophtalmologie (A.L.), Department of Surgery, Faculty of Medicine, CHU de Québec - Université Laval; and Centre Mère-Enfant-Soleil (N.C.), Université Laval, Québec, Canada.ORCID 0000-0001-7270-6115
Université du Québec à Montréal · CA
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo better characterize the neurologic and cognitive profile of patients with spinocerebellar ataxia 34 (SCA34) caused by
methodsWe investigated a 5-generation French-Canadian kindred presenting with a late-onset cerebellar ataxia and recruited age- and education-matched controls to evaluate the presence of neurocognitive impairment. Immunohistochemistry of dermal fibroblasts derived from a patient's skin biopsy was performed.
resultsPatients had a late-onset slowly progressive cerebellar syndrome (mean age at onset 47 years; range 32-60 years) characterized by truncal and limb ataxia, dysarthria, hypometric saccades, and saccadic pursuits. No patient had past or current signs of erythrokeratodermia variabilis, which had previously been reported. MRI revealed cerebellar atrophy, with pontine atrophy (4 of 6 patients), and cruciform hypersignal in the pons (2 of 6 patients). Fluorodeoxyglucose-PET showed diffuse cerebellar hypometabolism in all 5 tested patients with subtle parietal hypometabolism in 3. Significant cognitive deficits were found in executive functioning, along with apparent visuospatial, attention, and psychiatric involvement. Immunohistochemistry of dermal fibroblasts showed mislocalization of the ELOVL4 protein, which appeared punctate and aggregated, supporting a dominant negative effect of the mutation on protein localization.
conclusionsOur findings support the pathogenicity of
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