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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
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
#3
JOURNAL ARTICLE
Mana Khojasteh, Parsa Soleimani, Aida Ghasemi, Peyman Taghizadeh, Mohammad Rohani, Afagh Alavi
INTRODUCTION: Mutations in JAM2 have been linked to ~ 2% of primary familial brain calcification (PFBC) cases. PFBC is a rare neurological disorder characterized by excessive calcium deposition in the brain. It causes movement disorders and psychiatric problems. Six other genes were identified as causing PFBC. However, the genetic basis of ~ 50% of PFBC cases remains unknown. This study presented the results of a comprehensive analysis of five unrelated Iranian PFBC families...
March 5, 2024: Neurological Sciences
#4
JOURNAL ARTICLE
Sojung Yoon, Seok Jong Chung, Yun Joong Kim
No abstract text is available yet for this article.
March 2024: Journal of Clinical Neurology
#5
JOURNAL ARTICLE
Anne Rovelet-Lecrux, Antoine Bonnevalle, Olivier Quenez, Wandrille Delcroix, Kévin Cassinari, Anne-Claire Richard, Anne Boland, Jean-François Deleuze, Cyril Goizet, Alice Rucar, Christophe Verny, Karine Nguyen, Magalie Lecourtois, Gaël Nicolas
More than 50% of patients with primary familial brain calcification (PFBC), a rare neurological disorder, remain genetically unexplained. While some causative genes are yet to be identified, variants in non-coding regions of known genes may represent a source of missed diagnoses. We hypothesized that 5'-Untranslated Region (UTR) variants introducing an AUG codon may initiate mRNA translation and result in a loss of function in some of the PFBC genes. After reannotation of exome sequencing data of 113 unrelated PFBC probands, we identified two upstream AUG-introducing variants in the 5'UTR of PDGFB...
March 4, 2024: European Journal of Human Genetics: EJHG
#6
JOURNAL ARTICLE
Gini Mathijssen, Evelien van Valen, Pim A de Jong, Nienke M S Golüke, Emiel A van Maren, Birgitta M G Snijders, Eva H Brilstra, Ynte M Ruigrok, Susan Bakker, Renzo W Goto, Marielle H Emmelot-Vonk, Huiberdina L Koek
(1) Background: Primary Familial Brain Calcification (PFBC) is a neurodegenerative disease characterized by bilateral calcifications of the basal ganglia and other intracranial areas. Many patients experience symptoms of motor dysfunction and cognitive disorders. The aim of this study was to investigate the association between the amount and location of intracranial calcifications with these symptoms. (2) Methods: Patients with suspected PFBC referred to our outpatient clinic underwent a clinical work-up. Intracranial calcifications were visualized on Computed Tomography (CT), and a Total Calcification Score (TCS) was constructed...
January 31, 2024: Journal of Clinical Medicine
#7
RANDOMIZED CONTROLLED TRIAL
Birgitta Mg Snijders, Gini Mathijssen, Mike Jl Peters, Marielle H Emmelot-Vonk, Pim A de Jong, Susan Bakker, Heleen A Crommelin, Ynte M Ruigrok, Eva H Brilstra, Vera Pm Schepers, Wilko Spiering, Evelien van Valen, Huiberdina L Koek
BACKGROUND: Fahr's disease and syndrome are rare disorders leading to calcification of the small arteries in the basal ganglia of the brain, resulting in a wide range of symptoms comprising cognitive decline, movement disorders and neuropsychiatric symptoms. No disease-modifying therapies are available. Studies have shown the potential of treatment of ectopic vascular calcifications with bisphosphonates. This paper describes the rationale and design of the CALCIFADE trial which evaluates the effects of etidronate in patients with Fahr's disease or syndrome...
February 7, 2024: Orphanet Journal of Rare Diseases
#8
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
#9
JOURNAL ARTICLE
Andrea Timmi, Alexandre Morin, Olivier Guillin, Gaël Nicolas
Primary familial brain calcification (PFBC) is a rare disorder that can manifest with a wide spectrum of motor, cognitive, and psychiatric symptoms or even remain asymptomatic. Alzheimer disease (AD) is a common condition that typically starts as a progressive amnestic disorder and progresses to major cognitive impairment. Accurately attributing an etiology to cognitive impairment can sometimes be challenging, especially when multiple pathologies with potentially overlapping symptomatology contribute to the clinical phenotype...
January 5, 2024: Journal of Molecular Neuroscience: MN
#10
JOURNAL ARTICLE
Maha Yektay Farahmand, Johan Wasseilus, Elisabet Englund, Irwin Braverman, Andreas Puschmann, Andreea Ilinca
INTRODUCTION: Primary familial brain calcification (PFBC) is a neurodegenerative disease characterised by bilateral calcification in the brain, especially in the basal ganglia, leading to neurological and neuropsychiatric manifestations. White matter hyperintensities (WMH) have been described in patients with PFBC and pathogenic variants in the gene for platelet-derived growth factor beta polypeptide (PDGFB), suggesting a manifest cerebrovascular process. We present below the cases of two PFBC families with PDGFB variants and stroke or transient ischaemic attack (TIA) episodes...
December 29, 2023: Neurologia i Neurochirurgia Polska
#11
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
#12
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
#13
JOURNAL ARTICLE
Tianxue Zhao, Shaokun Xu, Siyue Liu, Juan Xu, Xianfeng Zhang, Yuhong Zhan
BACKGROUND: Primary familial brain calcification (PFBC) is a rare hereditary neurodegenerative disorder associated with the MYORG gene; however, the clinical and radiological characteristics of MYORG-PFBC remain unclear. METHODS: We present relevant medical data obtained from a patient affected by PFBC with a novel MYORG variant and conducted a mutational analysis of MYORG in her family members. We reviewed all reported PFBC cases with biallelic MYORG mutations until April 1, 2023, and summarized the associated clinical and radiological features and mutation sites...
September 7, 2023: Molecular Genetics & Genomic Medicine
#14
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
#15
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
#16
JOURNAL ARTICLE
Nikolai Gil D Reyes, Anthony E Lang
No abstract text is available yet for this article.
July 2023: Movement Disorders Clinical Practice
#17
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
#18
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
#19
Kristopher Aghemo, Ryan Salmanzadeh, Osmany DeAngelo, Austin M Salmanzadeh
Fahr's disease is a rare disorder characterized by abnormal calcium deposition within the basal ganglia, cerebellar dentate nuclei, and white matter tracts with subsequent atrophy. Typical CT imaging features include extensive symmetric calcification involving the basal ganglia and subcortical white matter. Primary Fahr's disease (also known as primary familial brain calcification) is diagnosed based on the exclusion of secondary causes such as underlying metabolic or endocrine disorders. The disease may or may not feature a detectable genetic component, which is inherited in an autosomal dominant or recessive pattern...
May 2023: Curēus
#20
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
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