Brain Calcification

Gene: TREM2

Green List (high evidence)

Additional cases are reported.
PMID 33969597 reports 7 unrelated patients with TREM2 variants who had bilateral calcification of the basal ganglia.
PMID 35705056 uses TREM2 knockout human microglia in the experiment and demonstrates deletion of the TREM2 gene impairs the clearance of calcification crystals, which may suggest the potential mechanism of TREM2-associated brain calcification.

Created: 3 May 2023, 3:26 p.m. | Last Modified: 3 May 2023, 3:26 p.m.

Panel Version: 1.76

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, MIM# 618193

Publications

• 33969597
• 35705056

Green List (high evidence)

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy-2 (PLOSL2), or Nasu-Hakola disease, is a recessively inherited presenile frontal dementia with leukoencephalopathy and basal ganglia calcification. In most cases the disorder first manifests in early adulthood as pain and swelling in ankles and feet, followed by bone fractures. Neurologic symptoms manifest in the fourth decade of life as a frontal lobe syndrome with loss of judgment, euphoria, and disinhibition. Progressive decline in other cognitive domains begins to develop at about the same time. The disorder culminates in a profound dementia and death by age 50 years. More than 5 unrelated families reported.
Sources: Expert list

Created: 22 Dec 2020, 9:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, MIM# 618193

Publications

• 12080485
• 15883308