A Novel Missense Mutation of the CSF1R Gene Causes Incurable CSF1R-Related Leukoencephalopathy: Case Report and Review of Literature

Clinical features and genetic characteristics of hereditary diffuse leukoencephalopathy with spheroids due to CSF1R mutation: a case report and literature review

(2020) Lv-Ping Zhuang et al.   Annals of Translational Medicine

A Novel Hypomorphic CSF1R Gene Mutation in the Biallelic State Leading to Fatal Childhood Neurodegeneration

(2020) Parag Mohan Tamhankar et al.   NEUROPEDIATRICS

Loss of homeostatic microglial phenotype in CSF1R-related Leukoencephalopathy

(2020) Liam Kempthorne et al.   Acta Neuropathologica Communications

Spinal Cord Involvement in Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia

(2020) Shanglin Li et al.   JAMA Neurology

Microglial replacement therapy: a potential therapeutic strategy for incurable CSF1R-related leukoencephalopathy

(2020) Jinming Han et al.   Acta Neuropathologica Communications

A novel mutation in the CSF1R gene causes hereditary diffuse leukoencephalopathy with axonal spheroids

(2019) Qin Du et al.   NEUROLOGICAL SCIENCES

Functional characterization of a novel CSF1R mutation causing hereditary diffuse leukoencephalopathy with spheroids

(2019) Torsten Kraya et al.   Molecular Genetics & Genomic Medicine

Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia

(2019) Nynke Oosterhof et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Diagnosis of hereditary diffuse leukoencephalopathy with neuroaxonal spheroids based on next-generation sequencing in a family

(2019) Tianji Shi et al.   MEDICINE

CSF1R mutation presenting as dementia with Lewy bodies

(2019) Rishi Sharma et al.   NEUROCASE

A novel CSF-1R mutation in a family with hereditary diffuse leukoencephalopathy with axonal spheroids misdiagnosed as hydrocephalus

(2019) Miaomiao Wang et al.   NEUROGENETICS

A Novel Splicing Mutation in the CSF1R Gene in a Family With Hereditary Diffuse Leukoencephalopathy With Axonal Spheroids

(2019) Xiaodong Yang et al.   Frontiers in Genetics

Differences of Microglia in the Brain and the Spinal Cord

(2019) Fang-Ling Xuan et al.   Frontiers in Cellular Neuroscience

Allogeneic HSCT for adult-onset leukoencephalopathy with spheroids and pigmented glia

(2019) Jeffrey M Gelfand et al.   BRAIN

Clinicopathologic characterization and abnormal autophagy of CSF1R-related leukoencephalopathy

(2019) Wo-Tu Tian et al.   Translational Neurodegeneration

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP): Integrating the literature on hereditary diffuse leukoencephalopathy with spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD)

(2018) Scott J. Adams et al.   JOURNAL OF CLINICAL NEUROSCIENCE

Mirror movements and blepharoclonus as novel phenomena in hereditary diffuse leukoencephalopathy with spheroids

(2018) Andreas Traschütz et al.   PARKINSONISM & RELATED DISORDERS

Early-onset dementia, leukoencephalopathy and brain calcifications: a clinical, imaging and pathological comparison of ALSP and PLOSL/Nasu Hakola disease

(2018) C. Coomans et al.   ACTA NEUROLOGICA BELGICA

Identification and functional characterization of novel mutations including frameshift mutation in exon 4 of CSF1R in patients with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

(2018) Takeshi Miura et al.   JOURNAL OF NEUROLOGY

AARS2 Compound Heterozygous Variants in a Case of Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia

(2018) Danqing Wang et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Colony-Stimulating Factor 1 Receptor (CSF1R) Regulates Microglia Density and Distribution, but Not Microglia Differentiation In Vivo

(2018) Nynke Oosterhof et al.   Cell Reports

Remarkable behavioural signs and progressive non-fluent aphasia in a patient with adult-onset leucoencephalopathy with axonal spheroids and pigmented glia

(2018) Michitaka Funayama et al.   Psychogeriatrics

CSF1R Mutation p.G589R and the Distribution Pattern of Brain Calcification

(2017) Kensuke Daida et al.   INTERNAL MEDICINE

Sporadic Cases with Novel Mutations and Pedigree in Hereditary Leukoencephalopathy with Axonal Spheroids

(2017) Liyong Wu et al.   JOURNAL OF ALZHEIMERS DISEASE

Clinicopathologic and Genetic Studies of 2 Patients With Hereditary Diffuse Leukoencephalopathy With Axonal Spheroids

(2016) Min-Yu Lan et al.   ALZHEIMER DISEASE & ASSOCIATED DISORDERS

Characteristic microglial features in patients with hereditary diffuse leukoencephalopathy with spheroids

(2016) Mari Tada et al.   ANNALS OF NEUROLOGY

Involvement of the optic nerve in mutated CSF1R-induced hereditary diffuse leukoencephalopathy with axonal spheroids

(2016) Yaqing Shu et al.   BMC Neurology

CSF1Rmosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids

(2016) Florian S. Eichler et al.   BRAIN

Hereditary diffuse leukoencephalopathy with spheroids - a volumetric and radiological comparison with multiple sclerosis patients and healthy controls

(2016) T. Granberg et al.   EUROPEAN JOURNAL OF NEUROLOGY

CSF1R-related leukoencephalopathy mimicking primary progressive multiple sclerosis

(2016) Carol Prieto-Morin et al.   JOURNAL OF NEUROLOGY

A family with hereditary diffuse leukoencephalopathy with spheroids caused by a novel c.2442+2T>C mutation in the CSF1R gene

(2016) Ito Kawakami et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

A young-onset frontal dementia with dramatic calcifications due to a novel CSF1R mutation

(2016) Ethan Gore et al.   NEUROCASE

Comprehensive diagnostics in a case of hereditary diffuse leukodystrophy with spheroids

(2015) Marie Meyer-Ohlendorf et al.   BMC Neurology

Sporadic adult-onset leucodystrophy with axonal spheroids and pigmented glia with no mutations in the known targeted genes

(2015) Ivan Fernández-Vega et al.   HISTOPATHOLOGY

Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series

(2015) David S Lynch et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Hereditary diffuse leukoencephalopathy with spheroids (HDLS) with a novel CSF1R mutation and spinal cord involvement

(2015) Peter Körtvelyessy et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Characterization of spheroids in hereditary diffuse leukoencephalopathy with axonal spheroids

(2015) Chenghua Jin et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia linked CSF1R mutation: Report of four Korean cases

(2015) Eun-Joo Kim et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia Caused by a Novel R782G Mutation in CSF1R

(2015) Nicola Foulds et al.   Scientific Reports

Common neuropathological features underlie distinct clinical presentations in three siblings with hereditary diffuse leukoencephalopathy with spheroids caused by CSF1R p.Arg782His

(2015) John L. Robinson et al.   Acta Neuropathologica Communications

Enlarging the Nosological Spectrum of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids (HDLS)

(2014) Sarah Hoffmann et al.   BRAIN PATHOLOGY

Diffuse leukoencephalopathy with spheroids: Biopsy findings and a novel mutation

(2014) Johannes Levin et al.   CLINICAL NEUROLOGY AND NEUROSURGERY

Hereditary diffuse leukoencephalopathy with spheroids with phenotype of primary progressive multiple sclerosis

(2014) C. Sundal et al.   EUROPEAN JOURNAL OF NEUROLOGY

Hereditary Diffuse Leukoencephalopathy with Spheroids Characterized by Spastic Hemiplegia Preceding Mental Impairment

(2014) Fukiko Kitani-Morii et al.   INTERNAL MEDICINE

Hereditary diffuse leukoencephalopathy with axonal spheroids: three patients with stroke-like presentation carrying new mutations in the CSF1R gene

(2014) Carla Battisti et al.   JOURNAL OF NEUROLOGY

Early Pathologic Changes in Hereditary Diffuse Leukoencephalopathy With Spheroids

(2014) Yuichi Riku et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

A novel mutation in the CSF1R gene causes a variable leukoencephalopathy with spheroids

(2014) Roberta La Piana et al.   NEUROGENETICS

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia: report on a case with morphometric studies

(2013) Teresa Calatayud et al.   CLINICAL NEUROPATHOLOGY

Early Involvement of the Corpus Callosum in a Patient with Hereditary Diffuse Leukoencephalopathy with Spheroids Carrying the de novo K793T Mutation of CSF1R

(2013) Yasufumi Kondo et al.   INTERNAL MEDICINE

A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids

(2013) Rebekah Ahmed et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

A new CSF1R mutation presenting with an extensive white matter lesion mimicking primary progressive multiple sclerosis

(2013) Toshio Inui et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Increasing and persistent DWI changes in a patient with Hereditary Diffuse Leukoencephalopathy with Spheroids

(2013) Yuka Terasawa et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

A case of hereditary diffuse leukoencephalopathy with axonal spheroids caused by a de novo mutation in CSF1R masquerading as primary progressive multiple sclerosis

(2013) Ban-yu Saitoh et al.   Multiple Sclerosis Journal

CSF1R mutations link POLD and HDLS as a single disease entity

(2013) A. M. Nicholson et al.   NEUROLOGY

Adult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia: report of five cases and a new mutation

(2012) Kirk Kleinfeld et al.   JOURNAL OF NEUROLOGY

Hereditary diffuse leukoencephalopathy with axonal spheroids caused by R782H mutation in CSF1R: Case report

(2012) Michiaki Kinoshita et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Update of the original HDLS kindred: divergent clinical courses

(2011) C. Sundal et al.   ACTA NEUROLOGICA SCANDINAVICA

Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): A misdiagnosed disease entity

(2011) Christina Sundal et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids

(2011) Rosa Rademakers et al.   NATURE GENETICS

Adult onset leukodystrophy with neuroaxonal spheroids and demyelinating plaque-like lesions

(2011) Elena Martinez-Saez et al.   NEUROPATHOLOGY

Adult Onset Leukodystrophy with Neuroaxonal Spheroids: Clinical, Neuroimaging and Neuropathologic Observations

(2008) Stefanie H. Freeman et al.   BRAIN PATHOLOGY

Insights into the dynamics of hereditary diffuse leukoencephalopathy with axonal spheroids

(2008) J. A. Van Gerpen et al.   NEUROLOGY