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JOURNAL ARTICLE
Stefan Sennfält, Peter Gustavsson, Helena Malmgren, Eric Gilland, Håkan Almqvist, Mikael Oscarson, Martin Engvall, Ingemar Björkhem, Daniel Nilsson, Kristina Lagerstedt-Robinson, Per Svenningsson, Martin Paucar
INTRODUCTION: Brain calcifications are frequent findings on imaging. In a small proportion of cases, these calcifications are associated with pathogenic gene variants, hence termed primary familial brain calcification (PFBC). The clinical penetrance is incomplete and phenotypic variability is substantial. This paper aims to characterize a Swedish PFBC cohort including 25 patients: 20 from seven families and five sporadic cases. METHODS: Longitudinal clinical assessment and CT imaging were conducted, abnormalities were assessed using the total calcification score (TCS)...
April 18, 2024: Journal of the Neurological Sciences
#2
JOURNAL ARTICLE
Christoph Zechner, Eugene P Rhee
PURPOSE OF REVIEW: Disruptions of phosphate homeostasis are associated with a multitude of diseases with insufficient treatments. Our knowledge regarding the mechanisms underlying metazoan phosphate homeostasis and sensing is limited. Here, we highlight four major advancements in this field during the last 12-18 months. RECENT FINDINGS: First, kidney glycolysis senses filtered phosphate, which results in the release of glycerol 3-phosphate (G-3-P). Circulating G-3-P then stimulates synthesis of the phosphaturic hormone fibroblast growth factor 23 in bone...
April 3, 2024: Current Opinion in Nephrology and Hypertension
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JOURNAL ARTICLE
Viorica Chelban, Henriette Aksnes, Reza Maroofian, Lauren C LaMonica, Luis Seabra, Anette Siggervåg, Perrine Devic, Hanan E Shamseldin, Jana Vandrovcova, David Murphy, Anne-Claire Richard, Olivier Quenez, Antoine Bonnevalle, M Natalia Zanetti, Rauan Kaiyrzhanov, Vincenzo Salpietro, Stephanie Efthymiou, Lucia V Schottlaender, Heba Morsy, Annarita Scardamaglia, Ambreen Tariq, Alistair T Pagnamenta, Ajia Pennavaria, Liv S Krogstad, Åse K Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten M Brønstad, Sandrine Tury, Andrés Moreno De Luca, Anne Boland-Auge, Robert Olaso, Jean-François Deleuze, Mathieu Anheim, Benjamin Cretin, Barbara Vona, Fahad Alajlan, Firdous Abdulwahab, Jean-Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Gungor, Semra Hiz Kurul, Hanns Lochmuller, Sahar I Da'as, Khalid A Fakhro, Alicia Gómez-Pascual, Juan A Botía, Nicholas W Wood, Rita Horvath, Andreas M Ernst, James E Rothman, Meriel McEntagart, Yanick J Crow, Fowzan S Alkuraya, Gaël Nicolas, Thomas Arnesen, Henry Houlden
Primary familial brain calcification (PFBC) is characterized by calcium deposition in the brain, causing progressive movement disorders, psychiatric symptoms, and cognitive decline. PFBC is a heterogeneous disorder currently linked to variants in six different genes, but most patients remain genetically undiagnosed. Here, we identify biallelic NAA60 variants in ten individuals from seven families with autosomal recessive PFBC. The NAA60 variants lead to loss-of-function with lack of protein N-terminal (Nt)-acetylation activity...
March 13, 2024: Nature Communications
#4
JOURNAL ARTICLE
Shai A Shaked, Shai Abehsera, Andreas Ziegler, Shmuel Bentov, Rivka Manor, Simy Weil, Ehud Ohana, Jerry Eichler, Eliahu D Aflalo, Amir Sagi
The SLC20A2 transporter supplies phosphate ions (Pi ) for diverse biological functions in vertebrates, yet has not been studied in crustaceans. Unlike vertebrates, whose skeletons are mineralized mainly by calcium phosphate, only minute amounts of Pi are found in the CaCO3 -mineralized exoskeletons of invertebrates. In this study, a crustacean SLC20A2 transporter was discovered and Pi transport to exoskeletal elements was studied with respect to the role of Pi in invertebrate exoskeleton biomineralization, revealing an evolutionarily conserved mechanism for Pi transport in both vertebrates and invertebrates...
February 28, 2024: Acta Biomaterialia
#5
JOURNAL ARTICLE
Mariana Ramos-Brossier, David Romeo-Guitart, Fabien Lanté, Valérie Boitez, François Mailliet, Soham Saha, Manon Rivagorda, Eleni Siopi, Ivan Nemazanyy, Christine Leroy, Stéphanie Moriceau, Sarah Beck-Cormier, Patrice Codogno, Alain Buisson, Laurent Beck, Gérard Friedlander, Franck Oury
In recent years, primary familial brain calcification (PFBC), a rare neurological disease characterized by a wide spectrum of cognitive disorders, has been associated to mutations in the sodium (Na)-Phosphate (Pi) co-transporter SLC20A2. However, the functional roles of the Na-Pi co-transporters in the brain remain still largely elusive. Here we show that Slc20a1 (PiT-1) and Slc20a2 (PiT-2) are the most abundant Na-Pi co-transporters expressed in the brain and are involved in the control of hippocampal-dependent learning and memory...
January 9, 2024: Cell Death & Disease
#6
Benjamin J Strober, Martin Jinye Zhang, Tiffany Amariuta, Jordan Rossen, Alkes L Price
Heritable diseases often manifest in a highly tissue specific manner, with different disease loci mediated by genes in distinct tissues or cell types. We propose Tissue Gene Fine Mapping (TGFM), a fine mapping method that infers the posterior probability (PIP) for each gene tissue pair to mediate a disease locus by analyzing GWAS summary statistics (and in sample LD) and leveraging eQTL data from diverse tissues to build cis predicted expression models; TGFM also assigns PIPs to causal variants that are not mediated by gene expression in assayed genes and tissues...
November 8, 2023: medRxiv
#7
JOURNAL ARTICLE
Onur Can Begentas, Dilara Koc, Nuriye Kayali Sendur, Peri Besarat, Sena Ezgin, Musa Temel, Hatice Ayse Tokcaer Bora, Erkan Kiris
Primary familial brain calcification (PFBC) is a rare neurological condition characterized by abnormal calcification commonly in basal ganglia and multiple other brain regions, leading to neuropsychiatric, cognitive, and motor symptoms. SLC20A2, one of the known causative genes for PFBC, contains the highest number of variants directly associated with the disease. Here, we established an iPSC line (METUi002-A) from the peripheral blood mononuclear cells of a clinically diagnosed PFBC patient carrying a SLC20A2 mutation (c...
October 18, 2023: Stem Cell Research
#8
Jamal Al Ali, Jessica Yang, Matthew S Phillips, Joseph Fink, James Mastrianni, Kaitlin Seibert
Fahr's disease, or primary familial brain calcification (PFBC), is a rare genetic neurologic disease characterized by abnormal calcification of the basal ganglia, subcortical white matter and cerebellum. Common clinical features include parkinsonism, neuropsychiatric symptoms, and cognitive decline. Genes implicated in Fahr's disease include PDGFB , PDGFRB , SLC20A2 , XPR1 , MYORG , and JAM2 . We present the case of a 51-year-old woman who developed subacute cognitive and behavioral changes primarily affecting frontal-subcortical pathways and parkinsonism in association with extensive bilateral calcifications within the basal ganglia, subcortical white matter, and cerebellum on neuroimaging...
2023: Frontiers in Neurology
#9
(no author information available yet)
No abstract text is available yet for this article.
September 25, 2023: Neuropathology: Official Journal of the Japanese Society of Neuropathology
#10
Bahadar S Srichawla, Eduardo Andrade, Vincent Kipkorir
Brain calcifications, previously known as Fahr's disease, is a rare neurological disorder marked by various clinical symptoms, including movement disorders, cognitive impairment, and psychiatric disturbances. Despite its clinical importance, its pathophysiology is unclear and there are no specific treatments. We present four cases of brain calcifications from our tertiary care center, with three female patients (75%) and an average age of 63 years. Our cohort featured both genetic and endocrine etiologies, including one primary familial brain calcification case with a c...
2023: SAGE Open Medical Case Reports
#11
JOURNAL ARTICLE
Changrui Xiao, Thomas Cassini, Daniel Benavides, Anusha Ebrahim, David Adams, Camilo Toro
BACKGROUND AND OBJECTIVES: Ectopic intracerebral calcifications (EICs) in the basal ganglia, thalamus, cerebellum, or white matter are seen in a variety of disease states or may be found incidentally on brain imaging. The clinical significance and proportion of cases attributable to an underlying genetic cause is unknown. METHODS: This retrospective cohort study details the clinical, imaging, and genomic findings of 44 patients with EICs who had no established diagnosis despite extensive medical workup...
October 2023: Neurology. Genetics
#12
JOURNAL ARTICLE
Upasana Maheshwari, José M Mateos, Ulrike Weber-Stadlbauer, Ruiqing Ni, Virgil Tamatey, Sucheta Sridhar, Alejandro Restrepo, Pim A de Jong, Sheng-Fu Huang, Johanna Schaffenrath, Sebastian A Stifter, Flora Szeri, Melanie Greter, Huiberdina L Koek, Annika Keller
Calcification of the cerebral microvessels in the basal ganglia in the absence of systemic calcium and phosphate imbalance is a hallmark of primary familial brain calcification (PFBC), a rare neurodegenerative disorder. Mutation in genes encoding for sodium-dependent phosphate transporter 2 (SLC20A2), xenotropic and polytropic retrovirus receptor 1 (XPR1), platelet-derived growth factor B (PDGFB), platelet-derived growth factor receptor beta (PDGFRB), myogenesis regulating glycosidase (MYORG), and junctional adhesion molecule 2 (JAM2) are known to cause PFBC...
July 28, 2023: Brain Pathology
#13
JOURNAL ARTICLE
Nikolai Gil D Reyes, Anthony E Lang
No abstract text is available yet for this article.
July 2023: Movement Disorders Clinical Practice
#14
REVIEW
Shih-Ying Chen, Chen-Jui Ho, Yan-Ting Lu, Chih-Hsiang Lin, Min-Yu Lan, Meng-Han Tsai
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 neuroimaging. Other brain regions, such as the thalamus, cerebellum, and subcortical white matter, can also be affected. Among the diverse clinical phenotypes, the most common manifestations are movement disorders, cognitive deficits, and psychiatric disturbances. Although patients with PFBC always exhibit brain calcification, nearly one-third of cases remain clinically asymptomatic...
June 29, 2023: International Journal of Molecular Sciences
#15
JOURNAL ARTICLE
Bruno Vieira Gomes, João Ricardo Mendes de Oliveira
Primary familial brain calcification (PFBC), often called Fahr's disease, is a condition in which calcium phosphate accumulates in the brain, mainly in the basal ganglia, thalamus, and cerebellum, and without the association of any metabolic or infectious cause. Patients present a variety of neurological and psychiatric disorders, usually during adulthood. The disease is caused by autosomal dominant pathogenic variants in genes such as SLC20A2, PDGFRB, PDGFB, and XPR1. MYORG and JAM2 are the other genes linked to homozygous patterns of inheritance...
July 7, 2023: Journal of Molecular Neuroscience: MN
#16
JOURNAL ARTICLE
Sophie Hebestreit, Janine Schwahn, Vesile Sandikci, Mate E Maros, Ivan Valkadinov, Rüstem Yilmaz, Lukas Eckrich, Seyed Babak Loghmani, Hendrik Lesch, Julian Conrad, Holger Wenz, Anne Ebert, David Brenner, Jochen H Weishaupt
Primary familial brain calcification (PFBC; formerly Fahr's disease) and early-onset Alzheimer's disease (EOAD) may share partially overlapping pathogenic principles. Although the heterozygous loss-of-function mutation c.1523 + 1G > T in the PFBC-linked gene SLC20A2 was detected in a patient with asymmetric tremor, early-onset dementia, and brain calcifications, CSF β-amyloid parameters and FBB-PET suggested cortical β-amyloid pathology. Genetic re-analysis of exome sequences revealed the probably pathogenic missense mutation c...
June 21, 2023: Neurogenetics
#17
REVIEW
Edoardo Monfrini, Federica Arienti, Paola Rinchetti, Francesco Lotti, Giulietta M Riboldi
Many conditions can present with accumulation of calcium in the brain and manifest with a variety of neurological symptoms. Brain calcifications can be primary (idiopathic or genetic) or secondary to various pathological conditions (e.g., calcium-phosphate metabolism derangement, autoimmune disorders and infections, among others). A set of causative genes associated with primary familial brain calcification (PFBC) has now been identified, and include genes such as SLC20A2 , PDGFB , PDGFRB , XPR1 , MYORG , and JAM2 ...
May 19, 2023: International Journal of Molecular Sciences
#18
JOURNAL ARTICLE
Nikolai Gil D Reyes, Anthony E Lang
No abstract text is available yet for this article.
March 2023: Movement Disorders Clinical Practice
#19
JOURNAL ARTICLE
Gianluca D'Onofrio, Marcello Scala, Mariasavina Severino, Roberta Roberti, Ferruccio Romano, Patrizia De Marco, Michele Iacomino, Simona Baldassari, Paolo Uva, Marco Pavanello, Stefano Gustincich, Pasquale Striano, Federico Zara, Valeria Capra
No abstract text is available yet for this article.
July 2023: European Journal of Human Genetics: EJHG
#20
JOURNAL ARTICLE
Miryam Carecchio, Michele Mainardi, Giulia Bonato
Primary familial brain calcification (PFBC), formerly known as Fahr's disease, is a rare neurodegenerative disease characterized by bilateral progressive calcification of the microvessels of the basal ganglia and other cerebral and cerebellar structures. PFBC is thought to be due to an altered function of the Neurovascular Unit (NVU), where abnormal calcium-phosphorus metabolism, functional and microanatomical alterations of pericytes and mitochondrial alterations cause a dysfunction of the blood-brain barrier (BBB) and the generation of an osteogenic environment with surrounding astrocyte activation and progressive neurodegeneration...
March 2, 2023: Journal of Neurology
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