Digenic Variants as Possible Clinical Modifier of Primary Familial Brain Calcification Patients
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Molecular Neuroscience"
DOI: 10.1007/s12031-019-01430-9
Abstract: Primary familial brain calcification (PFBC), widely known as Fahr’s disease, is a rare disorder caused by pathogenic variants in SLC20A2 , PDGFB , PDGFRB , XPR1 , or MYORG genes. It is characterized by ectopic… read more here.
Keywords: primary familial; brain calcification; pfbc; gene ... See more keywords
First pediatric case with primary familial brain calcification due to a novel variant on the MYORG gene and review of the literature
Sign Up to like & getrecommendations! Published in 2021 at "Brain and Development"
DOI: 10.1016/j.braindev.2021.04.002
Abstract: Variants in the myogenesis-regulating glycosidase (MYORG) gene which is known as the first autosomal recessive gene that has been associated with primary familial brain calcification (AR-PFBC). Although adult patients have been reported, no pediatric case… read more here.
Keywords: primary familial; calcification; gene; brain ... See more keywords
Anticipation in a family with primary familial brain calcification caused by an SLC20A2 variant.
Sign Up to like & getrecommendations! Published in 2018 at "Neurologia i neurochirurgia polska"
DOI: 10.1016/j.pjnns.2018.03.007
Abstract: AIM OF THE STUDY To describe a family with primary familial brain calcification (PFBC) due to SLC20A2 variant showing possible genetic anticipation. MATERIALS AND METHODS We conducted historical, genealogical, clinical, and radiologic studies of a… read more here.
Keywords: primary familial; brain calcification; family; family primary ... See more keywords
Clinical and radiological diversity in genetically confirmed primary familial brain calcification
Sign Up to like & getrecommendations! Published in 2017 at "Scientific Reports"
DOI: 10.1038/s41598-017-11595-1
Abstract: Primary familial brain calcification (PFBC) is a rare neuropsychiatric disorder with characteristic symmetrical brain calcifications. Patients with PFBC may have a variety of symptoms, although they also may be clinically asymptomatic. Parkinsonism is one of… read more here.
Keywords: clinical radiological; primary familial; brain calcification; brain ... See more keywords
Ossified blood vessels in primary familial brain calcification elicit a neurotoxic astrocyte response
Sign Up to like & getrecommendations! Published in 2019 at "Brain"
DOI: 10.1093/brain/awz032
Abstract: Brain calcifications are common in aged individuals, but the mechanisms underlying their formation are unclear. Zarb et al. show that in primary familial brain calcification, a neuropsychiatric disorder featuring bilateral vessel-associated calcifications in the basal… read more here.
Keywords: brain calcification; primary familial; neurotoxic astrocyte; calcification ... See more keywords
Astrocyte–microglial association and matrix composition are common events in the natural history of primary familial brain calcification
Sign Up to like & getrecommendations! Published in 2019 at "Brain Pathology"
DOI: 10.1111/bpa.12787
Abstract: Primary familial brain calcification (PFBC) is an age‐dependent and rare neurodegenerative disorder characterized by microvascular calcium phosphate deposits in the deep brain regions. Known genetic causes of PFBC include loss‐of‐function mutations in genes involved in… read more here.
Keywords: primary familial; brain calcification; calcification; composition ... See more keywords
Novel likely pathogenic SLC20A variant in primary familial brain calcification
Sign Up to like & getrecommendations! Published in 2022 at "BMJ Case Reports"
DOI: 10.1136/bcr-2021-245909
Abstract: A woman in her 30s was referred to our neurology outpatient clinic following an incidental finding of significant bilateral and symmetric basal ganglia, thalamic, cerebellar and subcortical white matter calcification on brain CT and MRI.… read more here.
Keywords: brain calcification; calcification; brain; familial brain ... See more keywords
A novel PDGFRB sequence variant in a family with a mild form of primary familial brain calcification: a case report and a review of the literature
Sign Up to like & getrecommendations! Published in 2019 at "BMC Neurology"
DOI: 10.1186/s12883-019-1292-8
Abstract: BackgroundPrimary familial brain calcification is a rare autosomal dominant or recessive neurodegenerative disease, characterized by bilateral brain calcifications in different areas of the brain. It is a clinically heterogeneous disease and patients are reported to… read more here.
Keywords: primary familial; brain calcification; brain; familial brain ... See more keywords
Teaching NeuroImage: Primary Familial Brain Calcification in SLC20A2 Genotype
Sign Up to like & getrecommendations! Published in 2022 at "Neurology"
DOI: 10.1212/wnl.0000000000201343
Abstract: A 52-year-old woman presented with a 4-year history of parkinsonism characterized by hypomimia, bradykinesia, right-hand rest tremor, reduced right arm swing, and short stride length. CT head (Figure 1) and MRI brain (Figure 2) showed… read more here.
Keywords: brain calcification; calcification; brain; genotype ... See more keywords
The primary familial brain calcification-associated protein MYORG is an α-galactosidase with restricted substrate specificity
Sign Up to like & getrecommendations! Published in 2022 at "PLoS Biology"
DOI: 10.1371/journal.pbio.3001764
Abstract: Primary familial brain calcification (PFBC) is characterised by abnormal deposits of calcium phosphate within various regions of the brain that are associated with severe cognitive impairments, psychiatric conditions, and movement disorders. Recent studies in diverse… read more here.
Keywords: myorg; brain calcification; brain; familial brain ... See more keywords