Nasu-Hakola disease

Nasu-Hakola disease

a rare autosomal-recessive syndrome of bone cysts with presenile dementia.

Nasu,

T., Japanese pathologist, 1915-1996.
Nasu disease - autosomal recessive disorder characterized by lipodystrophy, sclerosing leukoencephalopathy, and skeletal abnormalities. Synonym(s): membranous lipodystrophy; Nasu-Hakola disease
Nasu-Hakola disease - Synonym(s): Nasu disease
References in periodicals archive ?
A gene called triggering receptor expressed on myeloid cells 2, or TREM2, has been associated with numerous neurodegenerative diseases, such as Alzheimer's disease, Frontotemporal lobar degeneration, Parkinson's disease, and Nasu-Hakola disease.
X-linked inheritance strongly suggests adrenomyeloneuropathy, Fabry disease, pre-mutation X-fragile diagnosis; dominant inheritance suggests cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL), collagen type IV (Col IV) mutation, Nasu-Hakola disease (NHD), adult-onset autosomal dominant leucodystrophies (ADLD) and Alexander disease diagnosis.
An Italian family affected by Nasu-Hakola disease with a novel genetic mutation in the TREM2 gene.