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Mutations in the co...
Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids.
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Rademakers, Rosa (author)
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Baker, Matt (author)
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Nicholson, Alexandra M (author)
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show more...
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Rutherford, Nicola J (author)
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Finch, NiCole (author)
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Soto-Ortolaza, Alexandra (author)
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Lash, Jennifer (author)
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Wider, Christian (author)
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Wojtas, Aleksandra (author)
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DeJesus-Hernandez, Mariely (author)
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Adamson, Jennifer (author)
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Kouri, Naomi (author)
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- Sundal, Christina (author)
- Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi,Institute of Neuroscience and Physiology
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Shuster, Elizabeth A (author)
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Aasly, Jan (author)
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MacKenzie, James (author)
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Roeber, Sigrun (author)
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Kretzschmar, Hans A (author)
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Boeve, Bradley F (author)
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Knopman, David S (author)
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Petersen, Ronald C (author)
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Cairns, Nigel J (author)
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Ghetti, Bernardino (author)
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Spina, Salvatore (author)
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Garbern, James (author)
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Tselis, Alexandros C (author)
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Uitti, Ryan (author)
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Das, Pritam (author)
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Van Gerpen, Jay A (author)
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Meschia, James F (author)
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Levy, Shawn (author)
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Broderick, Daniel F (author)
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Graff-Radford, Neill (author)
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Ross, Owen A (author)
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Miller, Bradley B (author)
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Swerdlow, Russell H (author)
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Dickson, Dennis W (author)
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Wszolek, Zbigniew K (author)
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(creator_code:org_t)
- 2011-12-25
- 2012
- English.
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In: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 44:2, s. 200-5
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https://europepmc.or...
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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Abstract
Subject headings
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- Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is an autosomal-dominant central nervous system white-matter disease with variable clinical presentations, including personality and behavioral changes, dementia, depression, parkinsonism, seizures and other phenotypes. We combined genome-wide linkage analysis with exome sequencing and identified 14 different mutations affecting the tyrosine kinase domain of the colony stimulating factor 1 receptor (encoded by CSF1R) in 14 families with HDLS. In one kindred, we confirmed the de novo occurrence of the mutation. Follow-up sequencing identified an additional CSF1R mutation in an individual diagnosed with corticobasal syndrome. In vitro, CSF-1 stimulation resulted in rapid autophosphorylation of selected tyrosine residues in the kinase domain of wild-type but not mutant CSF1R, suggesting that HDLS may result from partial loss of CSF1R function. As CSF1R is a crucial mediator of microglial proliferation and differentiation in the brain, our findings suggest an important role for microglial dysfunction in HDLS pathogenesis.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Neurovetenskaper (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Neurosciences (hsv//eng)
Keyword
- Adolescent
- Adult
- Aged
- Aged
- 80 and over
- Base Sequence
- Exome
- Female
- Genetic Linkage
- Humans
- Leukodystrophy
- Globoid Cell
- genetics
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Phosphorylation
- Protein-Tyrosine Kinases
- genetics
- Receptor
- Macrophage Colony-Stimulating Factor
- genetics
- Sequence Analysis
- DNA
- Young Adult
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Rademakers, Rosa
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Baker, Matt
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Nicholson, Alexa ...
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Rutherford, Nico ...
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Finch, NiCole
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Soto-Ortolaza, A ...
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show more...
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Lash, Jennifer
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Wider, Christian
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Wojtas, Aleksand ...
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DeJesus-Hernande ...
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Adamson, Jennife ...
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Kouri, Naomi
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Sundal, Christin ...
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Shuster, Elizabe ...
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Aasly, Jan
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MacKenzie, James
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Roeber, Sigrun
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Kretzschmar, Han ...
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Boeve, Bradley F
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Knopman, David S
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Petersen, Ronald ...
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Cairns, Nigel J
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Ghetti, Bernardi ...
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Spina, Salvatore
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Garbern, James
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Tselis, Alexandr ...
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Uitti, Ryan
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Das, Pritam
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Van Gerpen, Jay ...
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Meschia, James F
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Levy, Shawn
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Broderick, Danie ...
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Graff-Radford, N ...
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Ross, Owen A
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Miller, Bradley ...
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Swerdlow, Russel ...
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Dickson, Dennis ...
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Wszolek, Zbignie ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Neurosciences
- Articles in the publication
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Nature genetics
- By the university
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University of Gothenburg