Basal ganglia calcifications (Fahr's syndrome): related conditions and clinical features

G Donzuso, G Mostile, A Nicoletti, M Zappia - Neurological sciences, 2019 - Springer
Basal ganglia calcifications could be incidental findings up to 20% of asymptomatic patients
undergoing CT or MRI scan. The presence of neuropsychiatric symptoms associated with …

The genetics of primary familial brain calcification: a literature review

SY Chen, CJ Ho, YT Lu, CH Lin, MY Lan… - International Journal of …, 2023 - mdpi.com
Primary familial brain calcification (PFBC), also known as Fahr's disease, is a rare inherited
disorder characterized by bilateral calcification in the basal ganglia according to …

Loss of function of CMPK2 causes mitochondria deficiency and brain calcification

M Zhao, HZ Su, YH Zeng, Y Sun, XX Guo, YL Li… - Cell Discovery, 2022 - nature.com
Brain calcification is a critical aging-associated pathology and can cause multifaceted
neurological symptoms. Cerebral phosphate homeostasis dysregulation, blood-brain barrier …

Identification and validation of aging-related genes in Alzheimer's disease

Q Zhang, J Li, L Weng - Frontiers in neuroscience, 2022 - frontiersin.org
Aging is recognized as the key risk factor for Alzheimer's disease (AD). This study aimed to
identify and verify potential aging-related genes associated with AD using bioinformatics …

A practical approach to early-onset Parkinsonism

GM Riboldi, E Frattini, E Monfrini… - Journal of …, 2022 - content.iospress.com
Early-onset parkinsonism (EO parkinsonism), defined as subjects with disease onset before
the age of 40 or 50 years, can be the main clinical presentation of a variety of conditions that …

Biallelic loss-of-function mutations in JAM2 cause primary familial brain calcification

Z Cen, Y Chen, S Chen, H Wang, D Yang, H Zhang… - Brain, 2020 - academic.oup.com
Primary familial brain calcification is a monogenic disease characterized by bilateral
calcifications in the basal ganglia and other brain regions, and commonly presents motor …

The pathology of primary familial brain calcification: implications for treatment

X Xu, H Sun, J Luo, X Cheng, W Lv, W Luo… - Neuroscience …, 2023 - Springer
Primary familial brain calcification (PFBC) is an inherited neurodegenerative disorder mainly
characterized by progressive calcium deposition bilaterally in the brain, accompanied by …

Hereditary disorders of cardiovascular calcification

F Rutsch, I Buers, Y Nitschke - Arteriosclerosis, thrombosis, and …, 2021 - Am Heart Assoc
Arterial calcification is a common phenomenon in the elderly, in patients with atherosclerosis
or renal failure and in diabetes. However, when present in very young individuals, it is likely …

The role of sclerostin in bone and ectopic calcification

A De Maré, PC D'Haese, A Verhulst - International journal of molecular …, 2020 - mdpi.com
Sclerostin, a 22-kDa glycoprotein that is mainly secreted by the osteocytes, is a soluble
inhibitor of canonical Wnt signaling. Therefore, when present at increased concentrations, it …

Microglia control small vessel calcification via TREM2

Y Zarb, S Sridhar, S Nassiri, SG Utz, J Schaffenrath… - Science …, 2021 - science.org
Microglia participate in central nervous system (CNS) development and homeostasis and
are often implicated in modulating disease processes. However, less is known about the …