Cargando…

Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS): new cases, systematic literature review, and associations with CSF1R-ALSP

CSF1R mutations cause autosomal-dominant CSF1R-related leukoencephalopathy with axonal spheroids and pigmented glia (CSF1R-ALSP) and autosomal-recessive brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS). The former is increasingly recognized, and disease-modifying therapy was i...

Descripción completa

Detalles Bibliográficos
Autores principales:	Dulski, Jarosław, Souza, Josiane, Santos, Mara Lúcia, Wszolek, Zbigniew K.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2023
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10288773/ https://www.ncbi.nlm.nih.gov/pubmed/37349768 http://dx.doi.org/10.1186/s13023-023-02772-9

Ejemplares similares

Homozygous mutation in CSF1R causes brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS)
por: Daghagh, Hossein, et al.
Publicado: (2023)

Hematopoietic Stem Cell Transplantation in CSF1R-Related Leukoencephalopathy: Retrospective Study on Predictors of Outcomes
por: Dulski, Jarosław, et al.
Publicado: (2022)

Microglial dyshomeostasis drives perineuronal net and synaptic loss in a CSF1R(+/−) mouse model of ALSP, which can be rescued via CSF1R inhibitors
por: Arreola, Miguel A., et al.
Publicado: (2021)

Genetic architecture of Parkinson’s disease subtypes – Review of the literature
por: Dulski, Jarosław, et al.
Publicado: (2022)

Dysosteosclerosis: Clinical and Radiological Evolution Reflecting Genetic Heterogeneity
por: Turan, Serap, et al.
Publicado: (2022)

An Autopsy Proven Case of CSF1R-mutant Adult-onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP) with Premature Ovarian Failure
por: Kim, Seong-Ik, et al.
Publicado: (2019)

A Case Report of Dysosteosclerosis Observed from the Prenatal Period
por: Kobayashi, Kisho, et al.
Publicado: (2010)

Redefining the phenotype of ALSP and AARS2 mutation–related leukodystrophy
por: Lakshmanan, Rahul, et al.
Publicado: (2017)

Minocycline protects against microgliopathy in a Csf1r haplo-insufficient mouse model of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP)
por: Li, Xin, et al.
Publicado: (2023)

A Null Mutation of TNFRSF11A Causes Dysosteosclerosis, Not Osteopetrosis
por: Kırkgöz, Tarık, et al.
Publicado: (2022)

Neuropsychological profile of CSF1R-related leukoencephalopathy
por: Rush, Beth K., et al.
Publicado: (2023)

Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP) in an Indian Man
por: Rao, Tejaswi, et al.
Publicado: (2022)

Dysosteosclerosis Presents as an “Osteoclast-Poor” Form of Osteopetrosis: Comprehensive Investigation of a 3-Year-Old Girl and Literature Review
por: Whyte, Michael P, et al.
Publicado: (2010)

Adult-onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP) Masquerading Primary Progressive Aphasia
por: Goyal, Sheetal, et al.
Publicado: (2022)

Loss of homeostatic microglial phenotype in CSF1R-related Leukoencephalopathy
por: Kempthorne, Liam, et al.
Publicado: (2020)

Microglial replacement therapy: a potential therapeutic strategy for incurable CSF1R-related leukoencephalopathy
por: Han, Jinming, et al.
Publicado: (2020)

Pathologic basis of the preferential thinning of thecorpus callosum in adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP)
por: Kinoshita, Michiaki, et al.
Publicado: (2021)

Correction to: Loss of homeostatic microglial phenotype in CSF1R-related Leukoencephalopathy
por: Kempthorne, Liam, et al.
Publicado: (2020)

A case of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) with a high antinuclear antibody titer
por: Zheng, Shitan, et al.
Publicado: (2021)

SAT-080 SLC29A3 Pathogenic Variant as a Causal for Dysosteosclerosis, a Poor Osteoclast Form of Osteopetrosis
por: Seiltgens, Cristian, et al.
Publicado: (2020)

Inhibition of colony stimulating factor-1 receptor (CSF-1R) as a potential therapeutic strategy for neurodegenerative diseases: opportunities and challenges
por: Han, Jinming, et al.
Publicado: (2022)

Clinicopathologic characterization and abnormal autophagy of CSF1R-related leukoencephalopathy
por: Tian, Wo-Tu, et al.
Publicado: (2019)

Arthrogryposis multiplex congenital in a child manifesting phenotypic features resembling dysosteosclerosis/osteosclerosis malformation complex; 3DCT scan analysis of the skull base
por: Al Kaissi, Ali, et al.
Publicado: (2008)

Abnormal iron homeostasis and neurodegeneration
por: Muhoberac, Barry B., et al.
Publicado: (2013)

Abnormal protein oligomers for neurodegeneration
por: Tokuda, Eiichi, et al.
Publicado: (2017)

CSF1R inhibitor JNJ-40346527 attenuates microglial proliferation and neurodegeneration in P301S mice
por: Mancuso, Renzo, et al.
Publicado: (2019)

Nucleic acid oxidation is associated with biomarkers of neurodegeneration in CSF in people with HIV
por: Ellis, Ronald J., et al.
Publicado: (2020)

Sex differences in CSF biomarkers for neurodegeneration and blood‐brain barrier integrity
por: Skillbäck, Tobias, et al.
Publicado: (2021)

Association of CSF and PET markers of neurodegeneration with electroclinical progression in Lafora disease
por: d'Orsi, Giuseppe, et al.
Publicado: (2023)

Neurofilament light protein in CSF and blood is associated with neurodegeneration and disease severity in Huntington’s disease R6/2 mice
por: Soylu-Kucharz, Rana, et al.
Publicado: (2017)

Clinical and genetic characterization of adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia associated with CSF1R mutation
por: Konno, T., et al.
Publicado: (2016)

CSF Neurofilament Light Chain Levels in Primary Progressive MS: Signs of Axonal Neurodegeneration
por: Pawlitzki, Marc, et al.
Publicado: (2018)

A Novel Missense Mutation of the CSF1R Gene Causes Incurable CSF1R-Related Leukoencephalopathy: Case Report and Review of Literature
por: Chen, Jie, et al.
Publicado: (2020)

Abnormal regulation of TSG101 in mice with spongiform neurodegeneration
por: Jiao, Jian, et al.
Publicado: (2009)

Senataxin protects the genome: Implications for neurodegeneration and other abnormalities
por: Lavin, Martin F., et al.
Publicado: (2013)

Abnormal Capillary Vasodynamics Contribute to Ictal Neurodegeneration in Epilepsy
por: Leal-Campanario, Rocio, et al.
Publicado: (2017)

Association of CSF, Plasma, and Imaging Markers of Neurodegeneration With Clinical Progression in People With Subjective Cognitive Decline
por: Ebenau, Jarith L., et al.
Publicado: (2022)

Brain alterations in the early Alzheimer’s continuum with amyloid-β, tau, glial and neurodegeneration CSF markers
por: Salvadó, Gemma, et al.
Publicado: (2022)

Neurodegeneration or dysfunction in Phelan-McDermid syndrome? A multimodal approach with CSF and computational MRI
por: Jesse, Sarah, et al.
Publicado: (2023)

Coexisting of bone marrow fibrosis, dysplasia and an X chromosomal abnormality in chronic neutrophilic leukemia with CSF3R mutation: a case report and literature review
por: Wu, Xue Bin, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_r37s1cnspjc10l8o7b6utkl662