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Four Swedish cases ...
Four Swedish cases of CSF1R-related leukoencephalopathy: Visualization of clinical phenotypes
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- Rosenstein, Igal, 1984 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för klinisk neurovetenskap,Institute of Neuroscience and Physiology, Department of Clinical Neuroscience,South Elfsborg Hospital,Sahlgrenska University Hospital,Sahlgrenska Academy
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- Andersen, Oluf, 1941 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för klinisk neurovetenskap,Institute of Neuroscience and Physiology, Department of Clinical Neuroscience,Sahlgrenska University Hospital,Sahlgrenska Academy
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- Victor, Daniel (author)
- Karolinska Institutet,Halmstad County Hospital
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- Englund, Elisabet (author)
- Lund University,Lunds universitet,Institutionen för laboratoriemedicin,Medicinska fakulteten,Patologi, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Department of Laboratory Medicine,Faculty of Medicine,Pathology, Lund,Section V,Department of Clinical Sciences, Lund
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- Granberg, Tobias (author)
- Karolinska Institute,Karolinska Institutet,Karolinska University Hospital
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- Oldfors Hedberg, Carola, 1969 (author)
- University of Gothenburg,Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för laboratoriemedicin,Department of Laboratory Medicine
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- Jood, Katarina, 1966 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för klinisk neurovetenskap,Institute of Neuroscience and Physiology, Department of Clinical Neuroscience,Sahlgrenska University Hospital,Sahlgrenska Academy
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- Fitrah, Yusran Ady (author)
- Niigata University
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- Ikeuchi, Takeshi (author)
- Niigata University
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- Danylaité Karrenbauer, Virginija (author)
- Karolinska Institute,Karolinska University Hospital
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(creator_code:org_t)
- 2022-02-04
- 2022
- English.
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In: Acta Neurologica Scandinavica. - : Hindawi Limited. - 0001-6314 .- 1600-0404. ; 145:5, s. 599-609
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Abstract
Subject headings
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- Colony stimulating factor 1 receptor (CSF1R)-related leukoencephalopathy is a rare, genetic disease caused by heterozygous mutations in the CSF1R gene with rapidly progressive neurodegeneration, behavioral, cognitive, motor disturbances. Objective: To describe four cases of CSF1R-related leukoencephalopathy from three families with two different pathogenic mutations in the tyrosine kinase domain of CSF1R and to develop an integrated presentation of inter-individual diversity of clinical presentations. Methods: This is an observational study of a case series. Patients diagnosed with CSF1R encephalopathy were evaluated with standardized functional estimation scores and subject to analysis of cerebrospinal fluid biomarkers. Brain computed tomography (CT) and magnetic resonance imaging (MRI) were evaluated. We performed a functional phosphorylation assay to confirm the dysfunction of mutated CSF1R protein. Results: Two heterozygous missense mutations in the CSF1R gene were identified, c.2344C>T; p.Arg777Trp and c.2329C>T; p.Arg782Cys. A phosphorylation assay in vitro showed markedly reduced autophosphorylation in cells expressing mutations. According to ACMG criteria, both mutations were pathogenic. A radiological investigation revealed typical white matter lesions in all cases. There was inter-individual diversity in the loss of cognitive, motor-neuronal, and extrapyramidal functions. Conclusions: Including the present cases, currently three CSF1R mutations are known in Sweden. We present a visualization tool to describe the clinical diversity, with potential use for longitudinal follow-up for this and other leukoencephalopathies.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- adult-onset leukoencephalopathy with spheroids and pigmented glia
- biomarkers
- colony stimulating factor 1 receptor
- CSF1R gene
- neurodegeneration
- primary microgliopathy
Publication and Content Type
- ref (subject category)
- art (subject category)
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Rosenstein, Igal ...
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Andersen, Oluf, ...
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Victor, Daniel
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Englund, Elisabe ...
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Granberg, Tobias
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Oldfors Hedberg, ...
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Jood, Katarina, ...
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Fitrah, Yusran A ...
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Ikeuchi, Takeshi
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Danylaité Karren ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Neurology
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Acta Neurologica ...
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University of Gothenburg
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Karolinska Institutet
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Lund University