Hereditary Diffuse Leukoencephalopathy with Spheroids

A hereditary, autosomal dominant, adult-onset, rapidly progressive NEURODEGENERATIVE DISORDER characterized by variable behavioral, cognitive, and motor changes. Patients often die of DEMENTIA within 6 years of onset. NEUROIMAGING shows patchy abnormalities in the cerebral WHITE MATTER, predominantly affecting the FRONTAL LOBE and PARIETAL LOBE. Mutations in the CSF1R gene have been identified. OMIM: 221820

Also Known As:

Adult-Onset Leukodystrophy with Neuroaxonal Spheroids; Autosomal Dominant Leukoencephalopathy with Neuroaxonal Spheroids; Dementia, Familial, Neumann Type; Gliosis, Familial Progressive Subcortical; Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids; Leukoencephalopathy with Neuroaxonal Spheroids, Autosomal Dominant; Leukoencephalopathy, Diffuse Hereditary, With Spheroids; Neuroaxonal Leukodystrophy; Subcortical Gliosis of Neumann

Networked: 26 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Nervous System Diseases: 14178
- Central Nervous System Diseases: 4213
  - Brain Diseases: 15694
    - Leukoencephalopathies: 1557
      - Hereditary Diffuse Leukoencephalopathy with Spheroids: 26

Related Diseases

1.	Sarcoidosis (Schaumann Disease)
2.	Leukoencephalopathies
3.	CADASIL
4.	Dementia (Dementias)
5.	Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

Experts

1.	Rademakers, Rosa: 3 articles (02/2019 - 12/2011)
2.	Boeve, Bradley F: 2 articles (02/2019 - 12/2011)
3.	Petersen, Ronald C: 2 articles (02/2019 - 12/2011)
4.	Bender, Benjamin: 2 articles (12/2014 - 12/2013)
5.	Biskup, Saskia: 2 articles (12/2014 - 12/2013)
6.	Karle, Kathrin N: 2 articles (12/2014 - 12/2013)
7.	Nägele, Thomas: 2 articles (12/2014 - 12/2013)
8.	Schöls, Ludger: 2 articles (12/2014 - 12/2013)
9.	Yoshida, Kunihiro: 2 articles (09/2013 - 01/2013)
10.	Aasly, Jan: 2 articles (08/2012 - 12/2011)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Hereditary Diffuse Leukoencephalopathy with Spheroids:

1.	Macrophage Colony-Stimulating FactorIBA 08/01/2021 - "Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is an adult onset leukodystrophy, causally related to mutations in the colony-stimulating factor 1 receptor (CSF1R) gene. " 10/10/2017 - "MR Spectroscopy in Patients with Hereditary Diffuse Leukoencephalopathy with Spheroids and Asymptomatic Carriers of Colony-stimulating Factor 1 Receptor Mutation." 01/01/2017 - "Genetic testing revealed a mutation in the colony-stimulating factor 1 receptor gene, which led to the diagnosis of hereditary diffuse leukoencephalopathy with spheroids. " 09/13/2016 - "Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) is a rare autosomal dominant disorder characterized by cerebral white matter degeneration and caused by mutations in the colony-stimulating factor 1 receptor (CSF1R) gene. " 01/01/2016 - "Mutations in the colony stimulating factor 1 receptor (CSF1R) have recently been discovered as causal for hereditary diffuse leukoencephalopathy with axonal spheroids. "
2.	Macrophage Colony-Stimulating Factor Receptor (Receptor, Macrophage Colony Stimulating Factor)IBA 11/01/2013 - "M-CSF receptor mutations in hereditary diffuse leukoencephalopathy with spheroids impair not only kinase activity but also surface expression." 12/10/2015 - "In clinical studies, we show a selective increase of the slan-negative intermediate monocytes to >100 cells per microliter in patients with sarcoidosis and a fivefold depletion of the slan-positive monocytes in patients with hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS), which is caused by macrophage colony-stimulating factor (M-CSF) receptor mutations. "
3.	Colony-Stimulating Factor Receptors (Colony-Stimulating Factor Receptor)IBA 05/01/2021 - "Specifically, updated knowledge regarding the neuroimaging patterns of the following diseases is summarized: sporadic Creutzfeldt-Jakob disease, neuronal intranuclear inclusion disease, and hereditary diffuse leukoencephalopathy with axonal spheroids-colony-stimulating factor receptors/adult-onset leukoencephalopathy with axonal spheroids and pigmented glia. " 02/01/2019 - "Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is an adult-onset autosomal dominant leukoencephalopathy resulting from mutations affecting the tyrosine kinase domain of the colony stimulating factor receptor 1 protein (encoded by CSF1R). "
4.	Cathepsin AIBA 09/03/2019 - "Several types of monogenic, hereditary cerebral SVD have been identified: cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL), hereditary diffuse leukoencephalopathy with spheroids (HDLS), COL4A1/2-related disorders, and Fabry disease. "
5.	Lamin Type B (Lamin B)IBA 01/01/2014 - "In particular, we review the clinical spectrum and the molecular pathogenesis of certain adult-onset leukoencephalopathies, including cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), cerebroretinal microangiopathy with calcifications and cysts (CRMCC), hereditary diffuse leukoencephalopathy with spheroids (HDLS), fragile X-associated tremor/ataxia syndrome (FXTAS), vanishing white matter disease (VWM), autosomal dominant leukodystrophy due to lamin B1 duplication (ADLD), and vascular leukoencephalopathy mapping to chromosome 20q13. "
6.	Eukaryotic Initiation Factor-2B (Eukaryotic Initiation Factor 2B)IBA 01/01/2018 - "Among these, cerebral autosomal dominant and recessive arteriopathy with subcortical infarcts and leukoencephalopathy, cerebroretinal vasculopathy, metachromatic leukodystrophy, hereditary diffuse leukoencephalopathy with spheroids, and vanishing white matter disease present with rapidly progressive dementia as dominant feature and are caused by mutations in NOTCH3, HTRA1, TREX1, ARSA, CSF1R, EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5, respectively. "
7.	Proteins (Proteins, Gene)FDA Link 02/01/2019 - "Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is an adult-onset autosomal dominant leukoencephalopathy resulting from mutations affecting the tyrosine kinase domain of the colony stimulating factor receptor 1 protein (encoded by CSF1R). "
8.	Protein-Tyrosine Kinases (Tyrosine Kinase)IBA 02/01/2019 - "Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is an adult-onset autosomal dominant leukoencephalopathy resulting from mutations affecting the tyrosine kinase domain of the colony stimulating factor receptor 1 protein (encoded by CSF1R). "
9.	PrionsIBA 10/12/2004 - "Neuropathologic etiologies of PPCD were Alzheimer disease (AD) (n = 13), AD plus Parkinson disease (n = 1), AD-Lewy body variant (n = 2), dementia with Lewy bodies plus progressive subcortical gliosis of Neumann (n = 1), corticobasal degeneration (n = 2), and prion-associated diseases: Creutzfeldt-Jakob disease (n = 1) and fatal familial insomnia (n = 1). "
10.	Phosphotransferases (Kinase)IBA 11/01/2013 - "M-CSF receptor mutations in hereditary diffuse leukoencephalopathy with spheroids impair not only kinase activity but also surface expression."

Therapies and Procedures

1.	Stem Cell Transplantation 01/01/2016 - "Our findings suggest that expression of wild-type CSF1R in some cells, whether achieved by mosaicism or chimerism, may confer benefit in hereditary diffuse leukoencephalopathy with axonal spheroids and suggest that haematopoietic stem cell transplantation might have a therapeutic role for this disorder."