ArticleMolecular genetics & genomic medicine2020
Clinical and genetic analysis of ATP13A2 in hereditary spastic paraplegia expands the phenotype.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 28 citations in OpenAlex.
- Progress in modelling ATP13A2-linked neurodegeneration.NPJ Parkinson's disease · 2026Review
- Phenotypic Variability in ATP13A2 Mutations: The First Report of SPG78 From India.Journal of movement disorders · 2025Article
- Hereditary Spastic Paraplegia in Alberta: Lessons from a Well-Defined Cohort Including the Indigenous Population.Movement disorders clinical practice · 2025Observational
- Motor Neuron Involvement in Two ATP13A2-Related Families: ALS And HSP-Like Phenotypes.Movement disorders clinical practice · 2025Article
- Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.Brain : a journal of neurology · 2025Article
- Spastic Paraplegia Type 78 Associated With ATP13A2 Gene Variants in Compound Heterozygosity.Molecular genetics & genomic medicine · 2025Article
- Nigral ATP13A2 depletion induces Parkinson's disease-related neurodegeneration in a pilot study in non-human primates.NPJ Parkinson's disease · 2024Article
- A novel ATP13A2 variant causing complicated hereditary spastic paraplegia.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024Article
- Bachmann-Bupp syndrome and treatment.Developmental medicine and child neurology · 2024Review
- Movement disorders in hereditary spastic paraplegias.Arquivos de neuro-psiquiatria · 2023Review
- ATP13A2 (PARK9) and basal ganglia function.Frontiers in neurology · 2023Review
- Autosomal Recessive Spastic Paraplegia Type 78 Associated with a Homozygous Variant in theMovement disorders clinical practice · 2022Article
- ATP13A2 protects dopaminergic neurons in Parkinson's disease: from biology to pathology.Journal of biomedical research · 2022Article
- Hereditary Spastic Paraplegia: An Update.International journal of molecular sciences · 2022Review
- Structural basis of polyamine transport by human ATP13A2 (PARK9).Molecular cell · 2021Article
- Genotype-Phenotype Correlations in Monogenic Parkinson Disease: A Review on Clinical and Molecular Findings.Frontiers in neurology · 2021Review
- Targeting of Lysosomal Pathway Genes for Parkinson's Disease Modification: Insights From Cellular and Animal Models.Frontiers in neurology · 2021Review
- Identification of a novel mutation inNeurology. Genetics · 2020Article
- Psychiatric Manifestations ofMovement disorders clinical practice · 2020Article
- Clinical and genetic analysis of ATP13A2 in hereditary spastic paraplegia expands the phenotype.Molecular genetics & genomic medicine · 2020Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundHereditary spastic paraplegias (HSP) are neurodegenerative disorders characterized by lower limb spasticity and weakness, with or without additional symptoms. Mutations in ATP13A2, known to cause Kufor-Rakeb syndrome (KRS), have been recently implicated in HSP.
methodsWhole-exome sequencing was done in a Canada-wide HSP cohort.
resultsThree additional patients with homozygous ATP13A2 mutations were identified, representing 0.7% of all HSP families. Spastic paraplegia was the predominant feature, all patients suffered from psychiatric symptoms, and one patient had developed seizures. Of the identified mutations, c.2126G>C;(p.[Arg709Thr]) is novel, c.2158G>T;(p.[Gly720Trp]) has not been reported in ATP13A2-related diseases, and c.2473_2474insAAdelC;p.[Leu825Asnfs*32]) has been previously reported in KRS but not in HSP. Structural analysis of the mutations suggested a disruptive effect, and enrichment analysis suggested the potential involvement of specific pathways.
conclusionOur study suggests that in HSP patients with psychiatric symptoms, ATP13A2 mutations should be suspected, especially if they also have extrapyramidal symptoms.
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