ArticleNeurology. Genetics2022
Revealing the Mutational Spectrum in Southern Africans With Amyotrophic Lateral Sclerosis.
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Article in Neurology. Genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17citing papers in PubMed
2.6field-weighted citation impact, top 9% of its field
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Who cites it
17 citing papers in PubMed, 22 citations in OpenAlex.
- Motor neuron disease in Africa: a critical appraisal of the literature.Nature reviews. Neurology · 2026Review
- Mechanism of the N87D mutation in SOD1-atypical amyotrophic lateral sclerosis case report and literature review molecular mechanism of N87D mutation in SOD1.Neurogenetics · 2026Review
- Physiological and pathological roles of ANXA11: a multifunctional regulator in neurodegeneration and other disorders.Cell communication and signaling : CCS · 2026Review
- Article
- Exploring the phenotypic fingerprints of ANXA11 variants in ALS: a population-based study in an European cohort.Journal of neurology · 2025Article
- Annexin A11 mutations are associated with nuclear envelope dysfunction in vivo and in human tissues.Brain : a journal of neurology · 2025Article
- First insights into genotype and phenotype of familial amyotrophic lateral sclerosis in Egypt: early onset and high consanguinity.Frontiers of medicine · 2024Article
- Gaps in biomedical research in frontotemporal dementia: A call for diversity and disparities focused research.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Review
- Clinical features and progress in diagnosis and treatment of amyotrophic lateral sclerosis.Annals of medicine · 2024Review
- Human TDP43 is required for ALS‑related annexin A11 toxicity inBiomedical reports · 2024Article
- Variability in SOD1-associated amyotrophic lateral sclerosis: geographic patterns, clinical heterogeneity, molecular alterations, and therapeutic implications.Translational neurodegeneration · 2024Review
- Analysis of Structural Variants Previously Associated With ALS in Europeans Highlights Genomic Architectural Differences in Africans.Neurology. Genetics · 2023Article
- The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia.Frontiers in neurology · 2023Article
- Case report: Flail leg syndrome in familial amyotrophic lateral sclerosis with L144SFrontiers in neurology · 2023Article
- New developments of biofluid-based biomarkers for routine diagnosis and disease trajectories in frontotemporal dementia.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2022Review
- A review of the genetic spectrum of hereditary spastic paraplegias, inherited neuropathies and spinal muscular atrophies in Africans.Orphanet journal of rare diseases · 2022Review
- Article
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Authors and funding
15 authors at 1 institution in 1 country.
Melissa NelNeurology Research Group (M.N., A.C.M., N.M., J.M.H.), Neuroscience Institute, University of Cape Town; Computational Biology Division (M.N., A.C.M., N.M., G.R.B., N.J.M.), Institute of Infectious Disease and Molecular Medicine, Cape Town, South Africa; Center for Applied Bioinformatics (G.W., E.R., J.M.), St. Jude Children's Research Hospital, Memphis, TN; Department of Neuroscience (M.v.B.), Mayo Clinic, Jacksonville, FL; Department of Neurology (J.W., A.C., M.B.), University of Miami, FL; Center for Molecular Neurology (R.R.), University of Antwerp, Belguim; Department of Cell and Molecular Biology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; and Neurology (J.M.H.), Department of Medicine, University of Cape Town, South Africa.
Amokelani C MahunguNeurology Research Group (M.N., A.C.M., N.M., J.M.H.), Neuroscience Institute, University of Cape Town; Computational Biology Division (M.N., A.C.M., N.M., G.R.B., N.J.M.), Institute of Infectious Disease and Molecular Medicine, Cape Town, South Africa; Center for Applied Bioinformatics (G.W., E.R., J.M.), St. Jude Children's Research Hospital, Memphis, TN; Department of Neuroscience (M.v.B.), Mayo Clinic, Jacksonville, FL; Department of Neurology (J.W., A.C., M.B.), University of Miami, FL; Center for Molecular Neurology (R.R.), University of Antwerp, Belguim; Department of Cell and Molecular Biology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; and Neurology (J.M.H.), Department of Medicine, University of Cape Town, South Africa.
Nomakhosazana MonnakgotlaNeurology Research Group (M.N., A.C.M., N.M., J.M.H.), Neuroscience Institute, University of Cape Town; Computational Biology Division (M.N., A.C.M., N.M., G.R.B., N.J.M.), Institute of Infectious Disease and Molecular Medicine, Cape Town, South Africa; Center for Applied Bioinformatics (G.W., E.R., J.M.), St. Jude Children's Research Hospital, Memphis, TN; Department of Neuroscience (M.v.B.), Mayo Clinic, Jacksonville, FL; Department of Neurology (J.W., A.C., M.B.), University of Miami, FL; Center for Molecular Neurology (R.R.), University of Antwerp, Belguim; Department of Cell and Molecular Biology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; and Neurology (J.M.H.), Department of Medicine, University of Cape Town, South Africa.
Gerrit R BothaNeurology Research Group (M.N., A.C.M., N.M., J.M.H.), Neuroscience Institute, University of Cape Town; Computational Biology Division (M.N., A.C.M., N.M., G.R.B., N.J.M.), Institute of Infectious Disease and Molecular Medicine, Cape Town, South Africa; Center for Applied Bioinformatics (G.W., E.R., J.M.), St. Jude Children's Research Hospital, Memphis, TN; Department of Neuroscience (M.v.B.), Mayo Clinic, Jacksonville, FL; Department of Neurology (J.W., A.C., M.B.), University of Miami, FL; Center for Molecular Neurology (R.R.), University of Antwerp, Belguim; Department of Cell and Molecular Biology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; and Neurology (J.M.H.), Department of Medicine, University of Cape Town, South Africa.
Nicola J MulderNeurology Research Group (M.N., A.C.M., N.M., J.M.H.), Neuroscience Institute, University of Cape Town; Computational Biology Division (M.N., A.C.M., N.M., G.R.B., N.J.M.), Institute of Infectious Disease and Molecular Medicine, Cape Town, South Africa; Center for Applied Bioinformatics (G.W., E.R., J.M.), St. Jude Children's Research Hospital, Memphis, TN; Department of Neuroscience (M.v.B.), Mayo Clinic, Jacksonville, FL; Department of Neurology (J.W., A.C., M.B.), University of Miami, FL; Center for Molecular Neurology (R.R.), University of Antwerp, Belguim; Department of Cell and Molecular Biology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; and Neurology (J.M.H.), Department of Medicine, University of Cape Town, South Africa.
Gang WuNeurology Research Group (M.N., A.C.M., N.M., J.M.H.), Neuroscience Institute, University of Cape Town; Computational Biology Division (M.N., A.C.M., N.M., G.R.B., N.J.M.), Institute of Infectious Disease and Molecular Medicine, Cape Town, South Africa; Center for Applied Bioinformatics (G.W., E.R., J.M.), St. Jude Children's Research Hospital, Memphis, TN; Department of Neuroscience (M.v.B.), Mayo Clinic, Jacksonville, FL; Department of Neurology (J.W., A.C., M.B.), University of Miami, FL; Center for Molecular Neurology (R.R.), University of Antwerp, Belguim; Department of Cell and Molecular Biology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; and Neurology (J.M.H.), Department of Medicine, University of Cape Town, South Africa.
Evadnie RampersaudNeurology Research Group (M.N., A.C.M., N.M., J.M.H.), Neuroscience Institute, University of Cape Town; Computational Biology Division (M.N., A.C.M., N.M., G.R.B., N.J.M.), Institute of Infectious Disease and Molecular Medicine, Cape Town, South Africa; Center for Applied Bioinformatics (G.W., E.R., J.M.), St. Jude Children's Research Hospital, Memphis, TN; Department of Neuroscience (M.v.B.), Mayo Clinic, Jacksonville, FL; Department of Neurology (J.W., A.C., M.B.), University of Miami, FL; Center for Molecular Neurology (R.R.), University of Antwerp, Belguim; Department of Cell and Molecular Biology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; and Neurology (J.M.H.), Department of Medicine, University of Cape Town, South Africa.
Marka van BlitterswijkNeurology Research Group (M.N., A.C.M., N.M., J.M.H.), Neuroscience Institute, University of Cape Town; Computational Biology Division (M.N., A.C.M., N.M., G.R.B., N.J.M.), Institute of Infectious Disease and Molecular Medicine, Cape Town, South Africa; Center for Applied Bioinformatics (G.W., E.R., J.M.), St. Jude Children's Research Hospital, Memphis, TN; Department of Neuroscience (M.v.B.), Mayo Clinic, Jacksonville, FL; Department of Neurology (J.W., A.C., M.B.), University of Miami, FL; Center for Molecular Neurology (R.R.), University of Antwerp, Belguim; Department of Cell and Molecular Biology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; and Neurology (J.M.H.), Department of Medicine, University of Cape Town, South Africa.ORCID https://orcid.org/0000-0002-3054-7053
Joanne WuuNeurology Research Group (M.N., A.C.M., N.M., J.M.H.), Neuroscience Institute, University of Cape Town; Computational Biology Division (M.N., A.C.M., N.M., G.R.B., N.J.M.), Institute of Infectious Disease and Molecular Medicine, Cape Town, South Africa; Center for Applied Bioinformatics (G.W., E.R., J.M.), St. Jude Children's Research Hospital, Memphis, TN; Department of Neuroscience (M.v.B.), Mayo Clinic, Jacksonville, FL; Department of Neurology (J.W., A.C., M.B.), University of Miami, FL; Center for Molecular Neurology (R.R.), University of Antwerp, Belguim; Department of Cell and Molecular Biology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; and Neurology (J.M.H.), Department of Medicine, University of Cape Town, South Africa.
Anne CooleyNeurology Research Group (M.N., A.C.M., N.M., J.M.H.), Neuroscience Institute, University of Cape Town; Computational Biology Division (M.N., A.C.M., N.M., G.R.B., N.J.M.), Institute of Infectious Disease and Molecular Medicine, Cape Town, South Africa; Center for Applied Bioinformatics (G.W., E.R., J.M.), St. Jude Children's Research Hospital, Memphis, TN; Department of Neuroscience (M.v.B.), Mayo Clinic, Jacksonville, FL; Department of Neurology (J.W., A.C., M.B.), University of Miami, FL; Center for Molecular Neurology (R.R.), University of Antwerp, Belguim; Department of Cell and Molecular Biology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; and Neurology (J.M.H.), Department of Medicine, University of Cape Town, South Africa.
Jason MyersNeurology Research Group (M.N., A.C.M., N.M., J.M.H.), Neuroscience Institute, University of Cape Town; Computational Biology Division (M.N., A.C.M., N.M., G.R.B., N.J.M.), Institute of Infectious Disease and Molecular Medicine, Cape Town, South Africa; Center for Applied Bioinformatics (G.W., E.R., J.M.), St. Jude Children's Research Hospital, Memphis, TN; Department of Neuroscience (M.v.B.), Mayo Clinic, Jacksonville, FL; Department of Neurology (J.W., A.C., M.B.), University of Miami, FL; Center for Molecular Neurology (R.R.), University of Antwerp, Belguim; Department of Cell and Molecular Biology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; and Neurology (J.M.H.), Department of Medicine, University of Cape Town, South Africa.ORCID https://orcid.org/0000-0002-0341-0860
Rosa RademakersNeurology Research Group (M.N., A.C.M., N.M., J.M.H.), Neuroscience Institute, University of Cape Town; Computational Biology Division (M.N., A.C.M., N.M., G.R.B., N.J.M.), Institute of Infectious Disease and Molecular Medicine, Cape Town, South Africa; Center for Applied Bioinformatics (G.W., E.R., J.M.), St. Jude Children's Research Hospital, Memphis, TN; Department of Neuroscience (M.v.B.), Mayo Clinic, Jacksonville, FL; Department of Neurology (J.W., A.C., M.B.), University of Miami, FL; Center for Molecular Neurology (R.R.), University of Antwerp, Belguim; Department of Cell and Molecular Biology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; and Neurology (J.M.H.), Department of Medicine, University of Cape Town, South Africa.ORCID https://orcid.org/0000-0002-4049-0863
J Paul TaylorNeurology Research Group (M.N., A.C.M., N.M., J.M.H.), Neuroscience Institute, University of Cape Town; Computational Biology Division (M.N., A.C.M., N.M., G.R.B., N.J.M.), Institute of Infectious Disease and Molecular Medicine, Cape Town, South Africa; Center for Applied Bioinformatics (G.W., E.R., J.M.), St. Jude Children's Research Hospital, Memphis, TN; Department of Neuroscience (M.v.B.), Mayo Clinic, Jacksonville, FL; Department of Neurology (J.W., A.C., M.B.), University of Miami, FL; Center for Molecular Neurology (R.R.), University of Antwerp, Belguim; Department of Cell and Molecular Biology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; and Neurology (J.M.H.), Department of Medicine, University of Cape Town, South Africa.ORCID https://orcid.org/0000-0002-5794-0349
Michael BenatarNeurology Research Group (M.N., A.C.M., N.M., J.M.H.), Neuroscience Institute, University of Cape Town; Computational Biology Division (M.N., A.C.M., N.M., G.R.B., N.J.M.), Institute of Infectious Disease and Molecular Medicine, Cape Town, South Africa; Center for Applied Bioinformatics (G.W., E.R., J.M.), St. Jude Children's Research Hospital, Memphis, TN; Department of Neuroscience (M.v.B.), Mayo Clinic, Jacksonville, FL; Department of Neurology (J.W., A.C., M.B.), University of Miami, FL; Center for Molecular Neurology (R.R.), University of Antwerp, Belguim; Department of Cell and Molecular Biology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; and Neurology (J.M.H.), Department of Medicine, University of Cape Town, South Africa.ORCID https://orcid.org/0000-0003-4241-5135
Jeannine M HeckmannNeurology Research Group (M.N., A.C.M., N.M., J.M.H.), Neuroscience Institute, University of Cape Town; Computational Biology Division (M.N., A.C.M., N.M., G.R.B., N.J.M.), Institute of Infectious Disease and Molecular Medicine, Cape Town, South Africa; Center for Applied Bioinformatics (G.W., E.R., J.M.), St. Jude Children's Research Hospital, Memphis, TN; Department of Neuroscience (M.v.B.), Mayo Clinic, Jacksonville, FL; Department of Neurology (J.W., A.C., M.B.), University of Miami, FL; Center for Molecular Neurology (R.R.), University of Antwerp, Belguim; Department of Cell and Molecular Biology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; and Neurology (J.M.H.), Department of Medicine, University of Cape Town, South Africa.ORCID https://orcid.org/0000-0002-8999-718X
Mahindra and Mahindra Limited (India) · IN
Funding
Uncovering new genes and disease modifiers for ALS and related disordersU54NS092091 · NINDS · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI Marka Van Blitterswijk · 2014 to 2026
$19.8MDynamic RNA-protein assemblies and neurological diseaseR35NS097974 · NINDS · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · PI TAYLOR, JOSEPH PAUL · 2017 to 2024
$7.2MNINDS NIH HHS R35 NS097974NINDS NIH HHS U54 NS092091
Abstract
BACKGROUND AND
objectivesTo perform the first screen of 44 amyotrophic lateral sclerosis (ALS) genes in a cohort of African genetic ancestry individuals with ALS using whole-genome sequencing (WGS) data.
methodsOne hundred three consecutive cases with probable/definite ALS (using the revised El Escorial criteria), and self-categorized as African genetic ancestry, underwent WGS using various Illumina platforms. As population controls, 238 samples from various African WGS data sets were included. Our analysis was restricted to 44 ALS genes, which were curated for rare sequence variants and classified according to the American College of Medical Genetics guidelines as likely benign, uncertain significance, likely pathogenic, or pathogenic variants.
resultsThirteen percent of 103 ALS cases harbored pathogenic variants; 5 different DISCUSSION: Our findings show that known ALS genes can be expected to identify a genetic cause of disease in >11% of sporadic ALS cases of African genetic ancestry. Similar to European cohorts, the 2 most frequent genes harboring pathogenic variants in this population group are
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