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 …

Single-cell dissection of the human brain vasculature

FJ Garcia, N Sun, H Lee, B Godlewski, H Mathys… - Nature, 2022 - nature.com
Despite the importance of the cerebrovasculature in maintaining normal brain physiology
and in understanding neurodegeneration and drug delivery to the central nervous system …

Absence of microglia promotes diverse pathologies and early lethality in Alzheimer's disease mice

SK Shabestari, S Morabito, EP Danhash, A McQuade… - Cell reports, 2022 - cell.com
Microglia are strongly implicated in the development and progression of Alzheimer's disease
(AD), yet their impact on pathology and lifespan remains unclear. Here we utilize a CSF1R …

Genotype–phenotype relations in primary familial brain calcification: systematic MDSGene review

A Balck, S Schaake, NS Kuhnke, A Domingo… - Movement …, 2021 - Wiley Online Library
This systematic MDSGene review covers individuals with confirmed genetic forms of primary
familial brain calcification (PFBC) available in the literature. Data on 516 (47% men) …

The Rostock International Parkinson's Disease (ROPAD) study: protocol and initial findings

V Skrahina, H Gaber, EJ Vollstedt… - Movement …, 2021 - Wiley Online Library
ABSTRACT Background Genetic stratification of Parkinson's disease (PD) patients facilitates
gene‐tailored research studies and clinical trials. The objective of this study was to describe …

Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes

A Batla, XY Tai, L Schottlaender, R Erro, B Balint… - Parkinsonism & related …, 2017 - Elsevier
Introduction There are now a number genes, known to be associated with familial primary
brain calcification (PFBC), causing the so called 'Fahr's' disease or syndrome. These are …

Movement disorders in treatable inborn errors of metabolism

D Ebrahimi‐Fakhari, C Van Karnebeek… - Movement …, 2019 - Wiley Online Library
There are several hundred single‐gene disorders that we classify as inborn errors of
metabolism. Inborn errors of metabolism are often rare and highly heterogeneous …

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 …

Primary brain calcification: an international study reporting novel variants and associated phenotypes

EM Ramos, M Carecchio, R Lemos, J Ferreira… - European Journal of …, 2018 - nature.com
Primary familial brain calcification (PFBC) is a rare cerebral microvascular calcifying
disorder with a wide spectrum of motor, cognitive, and neuropsychiatric symptoms. It is …