ArticleNeurology. Genetics2017
Ataxia-pancytopenia syndrome with
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Article in Neurology. Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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25 citing papers in PubMed, 35 citations in OpenAlex.
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- Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebellar Disorders.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- Ancient convergence with prokaryote defense and recent adaptations to lentiviruses in primates characterize the ancestral immune factors SAMD9s.bioRxiv : the preprint server for biology · 2025Article
- Brain MRI findings in paediatric genetic disorders associated with white matter abnormalities.Developmental medicine and child neurology · 2025Article
- Germline variants in acquired aplastic anemia: current knowledge and future perspectives.Haematologica · 2024Review
- Maculopathy and adult-onset ataxia in patients with biallelic MFSD8 variants.Molecular genetics & genomic medicine · 2024Article
- Assessing Long-Term Neurologic Outcomes in SAMD9L-Related Ataxia-Pancytopenia Syndrome.Movement disorders clinical practice · 2024Article
- Germline Variants and Characteristic Features of Hereditary Hematological Malignancy Syndrome.International journal of molecular sciences · 2024Review
- Clinical and genetic analyses of a Swedish patient series diagnosed with ataxia.Journal of neurology · 2024Article
- The α-synuclein PET tracer [18F] ACI-12589 distinguishes multiple system atrophy from other neurodegenerative diseases.Nature communications · 2023Article
- Review
- Functional Study of SAMD9L in Familial Gastric Cancer.The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology · 2023Article
- New SAMD9L heterozygous mutation leading to myelodysplastic syndrome and acute myeloid leukemia: A case report and review of the literature.Cancer reports (Hoboken, N.J.) · 2023Review
- Case report:Frontiers in pediatrics · 2023Article
- Article
- New spinocerebellar ataxia subtype caused byBrain communications · 2022Article
- SAMD9L autoinflammatory or ataxia pancytopenia disease mutations activate cell-autonomous translational repression.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Ataxia-Pancytopenia Syndrome due to a de NovoNeurology. Genetics · 2021Article
- Revertant somatic mosaicism as a cause of cancer.Cancer science · 2021Review
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Authors and funding
17 authors at 1 institution in 2 countries.
Sorina GorcencoSections of Neurology (S.G., C.N., A.P.), Pediatric Neurology (K.N.), Ophthalmology (S.A., U.K.), Pediatric Oncolocgy and Hematology (D.T., U.T., J.D.), Otorhinolaryngology (M.K.), and Hematology (L.N.), Department of Clinical Sciences, Skåne University Hospital, Lund University, Sweden; Department of Children and Adolescents (J.K.-E., J.U.), Department of Diagnostic Radiology (M.S.-P.), Department of Neurology (J.K.), and Department of Clinical Genetics, (E.R.), Oulu University Hospital; PEDEGO Research Unit (J.K.-E., E.R., J.U.), Medical Research Center Oulu (J.K.-E., M.S.-P., E.R., J.K., J.U.), Biocenter Oulu (J.K.-E., J.U.), and Research Unit of Clinical Neuroscience (J.K.), University of Oulu, Finland; Department of Hematology (J.C.), Linköping University Hospital and IKE Linköping University (J.C.), Sweden; and Division of Molecular Hematology (J.D.), Institution for Laboratory Medicine, Lund University, Sweden.
Jonna Komulainen-EbrahimSections of Neurology (S.G., C.N., A.P.), Pediatric Neurology (K.N.), Ophthalmology (S.A., U.K.), Pediatric Oncolocgy and Hematology (D.T., U.T., J.D.), Otorhinolaryngology (M.K.), and Hematology (L.N.), Department of Clinical Sciences, Skåne University Hospital, Lund University, Sweden; Department of Children and Adolescents (J.K.-E., J.U.), Department of Diagnostic Radiology (M.S.-P.), Department of Neurology (J.K.), and Department of Clinical Genetics, (E.R.), Oulu University Hospital; PEDEGO Research Unit (J.K.-E., E.R., J.U.), Medical Research Center Oulu (J.K.-E., M.S.-P., E.R., J.K., J.U.), Biocenter Oulu (J.K.-E., J.U.), and Research Unit of Clinical Neuroscience (J.K.), University of Oulu, Finland; Department of Hematology (J.C.), Linköping University Hospital and IKE Linköping University (J.C.), Sweden; and Division of Molecular Hematology (J.D.), Institution for Laboratory Medicine, Lund University, Sweden.
Karin NordborgSections of Neurology (S.G., C.N., A.P.), Pediatric Neurology (K.N.), Ophthalmology (S.A., U.K.), Pediatric Oncolocgy and Hematology (D.T., U.T., J.D.), Otorhinolaryngology (M.K.), and Hematology (L.N.), Department of Clinical Sciences, Skåne University Hospital, Lund University, Sweden; Department of Children and Adolescents (J.K.-E., J.U.), Department of Diagnostic Radiology (M.S.-P.), Department of Neurology (J.K.), and Department of Clinical Genetics, (E.R.), Oulu University Hospital; PEDEGO Research Unit (J.K.-E., E.R., J.U.), Medical Research Center Oulu (J.K.-E., M.S.-P., E.R., J.K., J.U.), Biocenter Oulu (J.K.-E., J.U.), and Research Unit of Clinical Neuroscience (J.K.), University of Oulu, Finland; Department of Hematology (J.C.), Linköping University Hospital and IKE Linköping University (J.C.), Sweden; and Division of Molecular Hematology (J.D.), Institution for Laboratory Medicine, Lund University, Sweden.
Maria Suo-PalosaariSections of Neurology (S.G., C.N., A.P.), Pediatric Neurology (K.N.), Ophthalmology (S.A., U.K.), Pediatric Oncolocgy and Hematology (D.T., U.T., J.D.), Otorhinolaryngology (M.K.), and Hematology (L.N.), Department of Clinical Sciences, Skåne University Hospital, Lund University, Sweden; Department of Children and Adolescents (J.K.-E., J.U.), Department of Diagnostic Radiology (M.S.-P.), Department of Neurology (J.K.), and Department of Clinical Genetics, (E.R.), Oulu University Hospital; PEDEGO Research Unit (J.K.-E., E.R., J.U.), Medical Research Center Oulu (J.K.-E., M.S.-P., E.R., J.K., J.U.), Biocenter Oulu (J.K.-E., J.U.), and Research Unit of Clinical Neuroscience (J.K.), University of Oulu, Finland; Department of Hematology (J.C.), Linköping University Hospital and IKE Linköping University (J.C.), Sweden; and Division of Molecular Hematology (J.D.), Institution for Laboratory Medicine, Lund University, Sweden.
Sten AndréassonSections of Neurology (S.G., C.N., A.P.), Pediatric Neurology (K.N.), Ophthalmology (S.A., U.K.), Pediatric Oncolocgy and Hematology (D.T., U.T., J.D.), Otorhinolaryngology (M.K.), and Hematology (L.N.), Department of Clinical Sciences, Skåne University Hospital, Lund University, Sweden; Department of Children and Adolescents (J.K.-E., J.U.), Department of Diagnostic Radiology (M.S.-P.), Department of Neurology (J.K.), and Department of Clinical Genetics, (E.R.), Oulu University Hospital; PEDEGO Research Unit (J.K.-E., E.R., J.U.), Medical Research Center Oulu (J.K.-E., M.S.-P., E.R., J.K., J.U.), Biocenter Oulu (J.K.-E., J.U.), and Research Unit of Clinical Neuroscience (J.K.), University of Oulu, Finland; Department of Hematology (J.C.), Linköping University Hospital and IKE Linköping University (J.C.), Sweden; and Division of Molecular Hematology (J.D.), Institution for Laboratory Medicine, Lund University, Sweden.
Johanna KrügerSections of Neurology (S.G., C.N., A.P.), Pediatric Neurology (K.N.), Ophthalmology (S.A., U.K.), Pediatric Oncolocgy and Hematology (D.T., U.T., J.D.), Otorhinolaryngology (M.K.), and Hematology (L.N.), Department of Clinical Sciences, Skåne University Hospital, Lund University, Sweden; Department of Children and Adolescents (J.K.-E., J.U.), Department of Diagnostic Radiology (M.S.-P.), Department of Neurology (J.K.), and Department of Clinical Genetics, (E.R.), Oulu University Hospital; PEDEGO Research Unit (J.K.-E., E.R., J.U.), Medical Research Center Oulu (J.K.-E., M.S.-P., E.R., J.K., J.U.), Biocenter Oulu (J.K.-E., J.U.), and Research Unit of Clinical Neuroscience (J.K.), University of Oulu, Finland; Department of Hematology (J.C.), Linköping University Hospital and IKE Linköping University (J.C.), Sweden; and Division of Molecular Hematology (J.D.), Institution for Laboratory Medicine, Lund University, Sweden.
Christer NilssonSections of Neurology (S.G., C.N., A.P.), Pediatric Neurology (K.N.), Ophthalmology (S.A., U.K.), Pediatric Oncolocgy and Hematology (D.T., U.T., J.D.), Otorhinolaryngology (M.K.), and Hematology (L.N.), Department of Clinical Sciences, Skåne University Hospital, Lund University, Sweden; Department of Children and Adolescents (J.K.-E., J.U.), Department of Diagnostic Radiology (M.S.-P.), Department of Neurology (J.K.), and Department of Clinical Genetics, (E.R.), Oulu University Hospital; PEDEGO Research Unit (J.K.-E., E.R., J.U.), Medical Research Center Oulu (J.K.-E., M.S.-P., E.R., J.K., J.U.), Biocenter Oulu (J.K.-E., J.U.), and Research Unit of Clinical Neuroscience (J.K.), University of Oulu, Finland; Department of Hematology (J.C.), Linköping University Hospital and IKE Linköping University (J.C.), Sweden; and Division of Molecular Hematology (J.D.), Institution for Laboratory Medicine, Lund University, Sweden.
Ulrika KjellströmSections of Neurology (S.G., C.N., A.P.), Pediatric Neurology (K.N.), Ophthalmology (S.A., U.K.), Pediatric Oncolocgy and Hematology (D.T., U.T., J.D.), Otorhinolaryngology (M.K.), and Hematology (L.N.), Department of Clinical Sciences, Skåne University Hospital, Lund University, Sweden; Department of Children and Adolescents (J.K.-E., J.U.), Department of Diagnostic Radiology (M.S.-P.), Department of Neurology (J.K.), and Department of Clinical Genetics, (E.R.), Oulu University Hospital; PEDEGO Research Unit (J.K.-E., E.R., J.U.), Medical Research Center Oulu (J.K.-E., M.S.-P., E.R., J.K., J.U.), Biocenter Oulu (J.K.-E., J.U.), and Research Unit of Clinical Neuroscience (J.K.), University of Oulu, Finland; Department of Hematology (J.C.), Linköping University Hospital and IKE Linköping University (J.C.), Sweden; and Division of Molecular Hematology (J.D.), Institution for Laboratory Medicine, Lund University, Sweden.
Elisa RahikkalaSections of Neurology (S.G., C.N., A.P.), Pediatric Neurology (K.N.), Ophthalmology (S.A., U.K.), Pediatric Oncolocgy and Hematology (D.T., U.T., J.D.), Otorhinolaryngology (M.K.), and Hematology (L.N.), Department of Clinical Sciences, Skåne University Hospital, Lund University, Sweden; Department of Children and Adolescents (J.K.-E., J.U.), Department of Diagnostic Radiology (M.S.-P.), Department of Neurology (J.K.), and Department of Clinical Genetics, (E.R.), Oulu University Hospital; PEDEGO Research Unit (J.K.-E., E.R., J.U.), Medical Research Center Oulu (J.K.-E., M.S.-P., E.R., J.K., J.U.), Biocenter Oulu (J.K.-E., J.U.), and Research Unit of Clinical Neuroscience (J.K.), University of Oulu, Finland; Department of Hematology (J.C.), Linköping University Hospital and IKE Linköping University (J.C.), Sweden; and Division of Molecular Hematology (J.D.), Institution for Laboratory Medicine, Lund University, Sweden.
Dominik TurkiewiczSections of Neurology (S.G., C.N., A.P.), Pediatric Neurology (K.N.), Ophthalmology (S.A., U.K.), Pediatric Oncolocgy and Hematology (D.T., U.T., J.D.), Otorhinolaryngology (M.K.), and Hematology (L.N.), Department of Clinical Sciences, Skåne University Hospital, Lund University, Sweden; Department of Children and Adolescents (J.K.-E., J.U.), Department of Diagnostic Radiology (M.S.-P.), Department of Neurology (J.K.), and Department of Clinical Genetics, (E.R.), Oulu University Hospital; PEDEGO Research Unit (J.K.-E., E.R., J.U.), Medical Research Center Oulu (J.K.-E., M.S.-P., E.R., J.K., J.U.), Biocenter Oulu (J.K.-E., J.U.), and Research Unit of Clinical Neuroscience (J.K.), University of Oulu, Finland; Department of Hematology (J.C.), Linköping University Hospital and IKE Linköping University (J.C.), Sweden; and Division of Molecular Hematology (J.D.), Institution for Laboratory Medicine, Lund University, Sweden.
Mikael KarlbergSections of Neurology (S.G., C.N., A.P.), Pediatric Neurology (K.N.), Ophthalmology (S.A., U.K.), Pediatric Oncolocgy and Hematology (D.T., U.T., J.D.), Otorhinolaryngology (M.K.), and Hematology (L.N.), Department of Clinical Sciences, Skåne University Hospital, Lund University, Sweden; Department of Children and Adolescents (J.K.-E., J.U.), Department of Diagnostic Radiology (M.S.-P.), Department of Neurology (J.K.), and Department of Clinical Genetics, (E.R.), Oulu University Hospital; PEDEGO Research Unit (J.K.-E., E.R., J.U.), Medical Research Center Oulu (J.K.-E., M.S.-P., E.R., J.K., J.U.), Biocenter Oulu (J.K.-E., J.U.), and Research Unit of Clinical Neuroscience (J.K.), University of Oulu, Finland; Department of Hematology (J.C.), Linköping University Hospital and IKE Linköping University (J.C.), Sweden; and Division of Molecular Hematology (J.D.), Institution for Laboratory Medicine, Lund University, Sweden.
Lars NilssonSections of Neurology (S.G., C.N., A.P.), Pediatric Neurology (K.N.), Ophthalmology (S.A., U.K.), Pediatric Oncolocgy and Hematology (D.T., U.T., J.D.), Otorhinolaryngology (M.K.), and Hematology (L.N.), Department of Clinical Sciences, Skåne University Hospital, Lund University, Sweden; Department of Children and Adolescents (J.K.-E., J.U.), Department of Diagnostic Radiology (M.S.-P.), Department of Neurology (J.K.), and Department of Clinical Genetics, (E.R.), Oulu University Hospital; PEDEGO Research Unit (J.K.-E., E.R., J.U.), Medical Research Center Oulu (J.K.-E., M.S.-P., E.R., J.K., J.U.), Biocenter Oulu (J.K.-E., J.U.), and Research Unit of Clinical Neuroscience (J.K.), University of Oulu, Finland; Department of Hematology (J.C.), Linköping University Hospital and IKE Linköping University (J.C.), Sweden; and Division of Molecular Hematology (J.D.), Institution for Laboratory Medicine, Lund University, Sweden.
Jörg CammengaSections of Neurology (S.G., C.N., A.P.), Pediatric Neurology (K.N.), Ophthalmology (S.A., U.K.), Pediatric Oncolocgy and Hematology (D.T., U.T., J.D.), Otorhinolaryngology (M.K.), and Hematology (L.N.), Department of Clinical Sciences, Skåne University Hospital, Lund University, Sweden; Department of Children and Adolescents (J.K.-E., J.U.), Department of Diagnostic Radiology (M.S.-P.), Department of Neurology (J.K.), and Department of Clinical Genetics, (E.R.), Oulu University Hospital; PEDEGO Research Unit (J.K.-E., E.R., J.U.), Medical Research Center Oulu (J.K.-E., M.S.-P., E.R., J.K., J.U.), Biocenter Oulu (J.K.-E., J.U.), and Research Unit of Clinical Neuroscience (J.K.), University of Oulu, Finland; Department of Hematology (J.C.), Linköping University Hospital and IKE Linköping University (J.C.), Sweden; and Division of Molecular Hematology (J.D.), Institution for Laboratory Medicine, Lund University, Sweden.
Ulf TedgårdSections of Neurology (S.G., C.N., A.P.), Pediatric Neurology (K.N.), Ophthalmology (S.A., U.K.), Pediatric Oncolocgy and Hematology (D.T., U.T., J.D.), Otorhinolaryngology (M.K.), and Hematology (L.N.), Department of Clinical Sciences, Skåne University Hospital, Lund University, Sweden; Department of Children and Adolescents (J.K.-E., J.U.), Department of Diagnostic Radiology (M.S.-P.), Department of Neurology (J.K.), and Department of Clinical Genetics, (E.R.), Oulu University Hospital; PEDEGO Research Unit (J.K.-E., E.R., J.U.), Medical Research Center Oulu (J.K.-E., M.S.-P., E.R., J.K., J.U.), Biocenter Oulu (J.K.-E., J.U.), and Research Unit of Clinical Neuroscience (J.K.), University of Oulu, Finland; Department of Hematology (J.C.), Linköping University Hospital and IKE Linköping University (J.C.), Sweden; and Division of Molecular Hematology (J.D.), Institution for Laboratory Medicine, Lund University, Sweden.
Josef DavidssonSections of Neurology (S.G., C.N., A.P.), Pediatric Neurology (K.N.), Ophthalmology (S.A., U.K.), Pediatric Oncolocgy and Hematology (D.T., U.T., J.D.), Otorhinolaryngology (M.K.), and Hematology (L.N.), Department of Clinical Sciences, Skåne University Hospital, Lund University, Sweden; Department of Children and Adolescents (J.K.-E., J.U.), Department of Diagnostic Radiology (M.S.-P.), Department of Neurology (J.K.), and Department of Clinical Genetics, (E.R.), Oulu University Hospital; PEDEGO Research Unit (J.K.-E., E.R., J.U.), Medical Research Center Oulu (J.K.-E., M.S.-P., E.R., J.K., J.U.), Biocenter Oulu (J.K.-E., J.U.), and Research Unit of Clinical Neuroscience (J.K.), University of Oulu, Finland; Department of Hematology (J.C.), Linköping University Hospital and IKE Linköping University (J.C.), Sweden; and Division of Molecular Hematology (J.D.), Institution for Laboratory Medicine, Lund University, Sweden.
Johanna UusimaaSections of Neurology (S.G., C.N., A.P.), Pediatric Neurology (K.N.), Ophthalmology (S.A., U.K.), Pediatric Oncolocgy and Hematology (D.T., U.T., J.D.), Otorhinolaryngology (M.K.), and Hematology (L.N.), Department of Clinical Sciences, Skåne University Hospital, Lund University, Sweden; Department of Children and Adolescents (J.K.-E., J.U.), Department of Diagnostic Radiology (M.S.-P.), Department of Neurology (J.K.), and Department of Clinical Genetics, (E.R.), Oulu University Hospital; PEDEGO Research Unit (J.K.-E., E.R., J.U.), Medical Research Center Oulu (J.K.-E., M.S.-P., E.R., J.K., J.U.), Biocenter Oulu (J.K.-E., J.U.), and Research Unit of Clinical Neuroscience (J.K.), University of Oulu, Finland; Department of Hematology (J.C.), Linköping University Hospital and IKE Linköping University (J.C.), Sweden; and Division of Molecular Hematology (J.D.), Institution for Laboratory Medicine, Lund University, Sweden.
Andreas PuschmannSections of Neurology (S.G., C.N., A.P.), Pediatric Neurology (K.N.), Ophthalmology (S.A., U.K.), Pediatric Oncolocgy and Hematology (D.T., U.T., J.D.), Otorhinolaryngology (M.K.), and Hematology (L.N.), Department of Clinical Sciences, Skåne University Hospital, Lund University, Sweden; Department of Children and Adolescents (J.K.-E., J.U.), Department of Diagnostic Radiology (M.S.-P.), Department of Neurology (J.K.), and Department of Clinical Genetics, (E.R.), Oulu University Hospital; PEDEGO Research Unit (J.K.-E., E.R., J.U.), Medical Research Center Oulu (J.K.-E., M.S.-P., E.R., J.K., J.U.), Biocenter Oulu (J.K.-E., J.U.), and Research Unit of Clinical Neuroscience (J.K.), University of Oulu, Finland; Department of Hematology (J.C.), Linköping University Hospital and IKE Linköping University (J.C.), Sweden; and Division of Molecular Hematology (J.D.), Institution for Laboratory Medicine, Lund University, Sweden.
Lund University · SE
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveWe describe the neurologic, neuroradiologic, and ophthalmologic phenotype of 1 Swedish and 1 Finnish family with autosomal dominant ataxia-pancytopenia (ATXPC) syndrome and
methodsMembers of these families with germline
resultsTwelve individuals in both families were affected clinically. All mutation carriers examined had balance impairment, although severity was very variable. All but 1 had nystagmus, and all but 1 had pyramidal tract signs. Neurologic features were generally present from childhood on and progressed slowly. Two adult patients, who experienced increasing clumsiness, glare, and difficulties with gaze fixation, had paracentral retinal dysfunction verified by multifocal electroretinography. Brain MRI showed early, marked cerebellar atrophy in most carriers and variable cerebral periventricular white matter T2 hyperintensities. Two children were treated with hematopoietic stem cell transplantation for hematologic malignancies, and the neurologic symptoms of one of these worsened after treatment. Three affected individuals had attention deficit hyperactivity disorder or cognitive problems. Retinal dysfunction was not previously reported in individuals with ATXPC.
conclusionsThe neurologic phenotype of this syndrome is defined by balance or gait impairment, nystagmus, hyperreflexia in the lower limbs and, frequently, marked cerebellar atrophy. Paracentral retinal dysfunction may contribute to glare, reading problems, and clumsiness. Timely diagnosis of ATXPC is important to address the risk for severe hemorrhage, infection, and hematologic malignancies inherent in this syndrome; regular hematologic follow-up might be beneficial.
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