Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy

A rare hereditary autosomal recessive disorder characterized by cyst-like bone changes visible on x-rays beginning in the patient's 20s as well as bone fractures and pain in the ankles, feet, wrists, and hands. Brain abnormalities present in the patient's 30s and are characterized by LEUKOENCEPHALOPATHY, cognitive and behavioral changes, DEMENTIA and ATAXIA. Mutations in the TYROBP and TREM2 genes have been identified. OMIM: 221770

Also Known As:

Networked: 34 relevant articles (0 outcomes, 4 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Frontotemporal Dementia (Semantic Dementia)
2.	Lipodystrophy
3.	Alzheimer Disease (Alzheimer's Disease)
4.	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
5.	Bone Cysts (Bone Cyst)

Experts

1.	Satoh, Jun-Ichi: 7 articles (01/2020 - 08/2011)
2.	Saito, Yuko: 5 articles (11/2018 - 04/2012)
3.	Ishida, Tsuyoshi: 4 articles (11/2018 - 08/2011)
4.	Kino, Yoshihiro: 4 articles (11/2018 - 12/2015)
5.	Yanaizu, Motoaki: 3 articles (11/2018 - 11/2016)
6.	Arai, Nobutaka: 3 articles (12/2015 - 08/2011)
7.	Arima, Kunimasa: 3 articles (12/2015 - 08/2011)
8.	Jinnai, Kenji: 3 articles (12/2015 - 08/2011)
9.	Yagishita, Saburo: 3 articles (12/2015 - 08/2011)
10.	Tabunoki, Hiroko: 3 articles (01/2014 - 08/2011)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy:

1.	Proteins (Proteins, Gene)FDA Link 10/01/2016 - "Loss-of-function mutations in TREM2 or in the gene encoding its adaptor protein cause the rare Nasu-Hakola disease (NHD). " 01/01/2015 - "Here, we review the genetic causes of PLOSL with loss-of-function mutations or deletions in one of two genes, TYROBP and TREM2, encoding for two proteins DNAX-activating protein 12 (DAP12) and triggering receptor expressed on myeloid cells-2 (TREM2). " 10/01/2018 - "We used stem cell-derived microglia to study the consequences of missense mutations in the microglial-expressed protein triggering receptor expressed on myeloid cells 2 (TREM2), which are causal for frontotemporal dementia-like syndrome and Nasu-Hakola disease. " 07/09/2008 - "DAP12 is a microglial signaling protein expressed around birth, mutations of which in the human induces the Nasu-Hakola disease, characterized by early dementia. " 10/01/2022 - "However, in Alzheimer Disease TREM2 allele variants lead to an impaired, but functional TREM2 protein, so that patients do not develop Nasu-Hakola disease but are at increased risk to develop other neurodegenerative diseases. "
2.	LipidsIBA 02/01/1988 - "[Lipid chemical study of an autopsy case of Nasu-Hakola disease]." 02/01/1988 - "Lipid chemical analysis of a case of membranous lipodystrophy (Nasu-Hakola disease) was reported. " 01/01/1991 - "Ultrastructural lipid and glycoconjugate cytochemistry of membranous lipodystrophy (Nasu-Hakola disease)." 06/01/1989 - "Nasu-Hakola disease is not a typical form of lysosomal storage disease, because lysosomal enzyme activities remain normal and there is no accumulation of urinary oligosaccharides and lipids, no vacuolation of lymphocytes, and no hepatosplenomegaly. " 02/01/2018 - "Nasu-Hakola disease (NHD) is a rare autosomal recessive disorder, characterized by progressive presenile dementia and formation of multifocal bone cysts, caused by genetic mutations of either triggering receptor expressed on myeloid cells 2 (TREM2) or TYRO protein tyrosine kinase binding protein (TYROBP), alternatively named DNAX-activation protein 12 (DAP12), both of which are expressed on microglia in the brain and form the receptor-adaptor complex that chiefly recognizes anionic lipids. "
3.	LectinsIBA 01/01/1988 - "This paper reports three cases of membranous lipodystrophy (Nasu-Hakola disease) in two families and studies the carbohydrate components of membranocystic lesions in all three cases, using twelve kinds of lectins labelled by horseradish peroxidase (HRP). "
4.	Sulfoglycosphingolipids (Sulfatides)IBA 12/01/1989 - "A study was conducted on the fatty acid composition of cerebroside, sulfatide and ganglioside in the brains of 4 cases of Nasu-Hakola disease. "
5.	Horseradish PeroxidaseIBA 01/01/1988 - "This paper reports three cases of membranous lipodystrophy (Nasu-Hakola disease) in two families and studies the carbohydrate components of membranocystic lesions in all three cases, using twelve kinds of lectins labelled by horseradish peroxidase (HRP). "
6.	GangliosidesIBA 12/01/1989 - "A study was conducted on the fatty acid composition of cerebroside, sulfatide and ganglioside in the brains of 4 cases of Nasu-Hakola disease. " 12/01/1989 - "Fatty acid analysis of galactolipids and ganglioside in the brains of four cases of Nasu-Hakola disease."
7.	Fatty Acids (Saturated Fatty Acids)IBA 12/01/1989 - "A study was conducted on the fatty acid composition of cerebroside, sulfatide and ganglioside in the brains of 4 cases of Nasu-Hakola disease. " 12/01/1989 - "Fatty acid analysis of galactolipids and ganglioside in the brains of four cases of Nasu-Hakola disease."
8.	CarbohydratesIBA 01/01/1988 - "This paper reports three cases of membranous lipodystrophy (Nasu-Hakola disease) in two families and studies the carbohydrate components of membranocystic lesions in all three cases, using twelve kinds of lectins labelled by horseradish peroxidase (HRP). "
9.	Carrier Proteins (Binding Protein)IBA 07/01/2000 - "Here we characterize the molecular defect in PLOSL by identifying one large deletion in all Finnish PLOSL alleles and another mutation in a Japanese patient, both representing loss-of-function mutations, in the gene encoding TYRO protein tyrosine kinase binding protein (TYROBP; formerly DAP12). " 01/01/2022 - "Loss-of-function mutations in the gene that encodes TYRO protein kinase-binding protein (TYROBP) cause Nasu-Hakola disease, a heritable disease resembling Alzheimer's disease (AD). " 01/01/2020 - "To characterize processes affected by R47H, we performed an integrative network analysis of genes expressed in brains of AD patients with R47H, sporadic AD without the variant, and patients with polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), systemic disease with early-onset dementia caused by loss-of-function mutations in TREM2 or its adaptor TYRO protein tyrosine kinase-binding protein (TYROBP). " 02/01/2018 - "Nasu-Hakola disease (NHD) is a rare autosomal recessive disorder, characterized by progressive presenile dementia and formation of multifocal bone cysts, caused by genetic mutations of either triggering receptor expressed on myeloid cells 2 (TREM2) or TYRO protein tyrosine kinase binding protein (TYROBP), alternatively named DNAX-activation protein 12 (DAP12), both of which are expressed on microglia in the brain and form the receptor-adaptor complex that chiefly recognizes anionic lipids. "
10.	Protein-Tyrosine Kinases (Tyrosine Kinase)IBA 07/01/2000 - "Here we characterize the molecular defect in PLOSL by identifying one large deletion in all Finnish PLOSL alleles and another mutation in a Japanese patient, both representing loss-of-function mutations, in the gene encoding TYRO protein tyrosine kinase binding protein (TYROBP; formerly DAP12). " 01/01/2020 - "To characterize processes affected by R47H, we performed an integrative network analysis of genes expressed in brains of AD patients with R47H, sporadic AD without the variant, and patients with polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), systemic disease with early-onset dementia caused by loss-of-function mutations in TREM2 or its adaptor TYRO protein tyrosine kinase-binding protein (TYROBP). " 02/01/2018 - "Nasu-Hakola disease (NHD) is a rare autosomal recessive disorder, characterized by progressive presenile dementia and formation of multifocal bone cysts, caused by genetic mutations of either triggering receptor expressed on myeloid cells 2 (TREM2) or TYRO protein tyrosine kinase binding protein (TYROBP), alternatively named DNAX-activation protein 12 (DAP12), both of which are expressed on microglia in the brain and form the receptor-adaptor complex that chiefly recognizes anionic lipids. "

Therapies and Procedures

1.	Bone Transplantation (Bone Grafting) 01/01/2014 - "In this case report, we presented a 42-year-old male with Nasu-Hakola disease having bilateral painful talar lipomembranous cystic lesions treated with curettage and iliac bone grafting. "
2.	Therapeutics 01/01/2015 - "Based on the state of the field, genetic testing now aids in diagnosis of PLOSL, but therapeutics and interventions are still under development."
3.	Curettage 01/01/2014 - "In this case report, we presented a 42-year-old male with Nasu-Hakola disease having bilateral painful talar lipomembranous cystic lesions treated with curettage and iliac bone grafting. "