Why Is There No PiT1/SLC20A1 Pathogenic Variants Yet Linked to Primary Familial Brain Calcification?
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Bone and Mineral Research"
DOI: 10.1002/jbmr.3973
Abstract: We read with interested the article by Couasnay and colleagues reporting a new role for PiT1 protein, independent of its inorganic phosphate (Pi) transport function, in the regulation and homeostasis of the endoplasmic reticulum (ER)… read more here.
Keywords: couasnay colleagues; brain calcification; pit1; gene ... See more keywords
A PDGFB mutation causes paroxysmal nonkinesigenic dyskinesia with brain calcification
Sign Up to like & getrecommendations! Published in 2017 at "Movement Disorders"
DOI: 10.1002/mds.26988
Abstract: Paroxysmal nonkinesigenic dyskinesia (PNKD) is a rare movement disorder characterized by episodic attacks of involuntary movements. Mutations in the PNKD (MR-1) gene have been identified as a major genetic cause of PNKD. Primary familial brain… read more here.
Keywords: times per; nonkinesigenic dyskinesia; brain calcification; age ... See more keywords
Severe brain calcification and migraine headache caused by SLC20A2 and PDGFRB heterozygous mutations in a five‐year‐old Chinese girl
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1670
Abstract: Primary familial brain calcification (PFBC) is a rare inheritable neurodegenerative disease characterized by bilateral calcification in different brain regions and by a range of neuropsychiatric symptoms. Six causative genes of PFBC (SLC20A2, PDGFRB, PDGFB, XPR1,… read more here.
Keywords: severe brain; brain calcification; calcification; brain ... See more keywords
A novel SLC20A2 gene mutation causing primary familial brain calcification in an Ukrainian patient
Sign Up to like & getrecommendations! Published in 2018 at "Neurological Sciences"
DOI: 10.1007/s10072-018-3684-8
Abstract: Dear Editor, Primary familial brain calcification (PFBC) is a rare neurological disease characterized by symmetrical bilateral calcifications, which are mostly located in the basal ganglia but can also be detected in other areas of the… read more here.
Keywords: brain; slc20a2 gene; mutation; brain calcification ... See more keywords
MYORG Mutations: a Major Cause of Recessive Primary Familial Brain Calcification
Sign Up to like & getrecommendations! Published in 2019 at "Current Neurology and Neuroscience Reports"
DOI: 10.1007/s11910-019-0986-z
Abstract: Purpose of ReviewUntil recently, the gene associated with the recessive form of familial brain calcification (PFBC, Fahr disease) was unknown. MYORG, a gene that causes recessive PFBC was only recently discovered and is currently the… read more here.
Keywords: cause; brain calcification; calcification; myorg ... See more keywords
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
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