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https://www.readbyqxmd.com/read/27777849/living-with-idiopathic-basal-ganglia-calcification-3-a-qualitative-study-describing-the-lives-and-illness-of-people-diagnosed-with-a-rare-neurological-disease
#1
Tomiko Takeuchi, Koko Muraoka, Megumi Yamada, Yuri Nishio, Isao Hozumi
PURPOSE: Idiopathic basal ganglia calcification (IBGC) is a rare, intractable disease with unknown etiology. IBGC3 is a familial genetic disease defined by genetic mutations in the major causative gene (SLC20A2). People with IBGC3 experience distress from the uncommon nature of their illness and uncertainty about treatment and prognoses. The present study aimed to describe the lives and illness of people with IBGC3. METHODS: Participants were recruited from patients aged 20 years or older enrolled in a genetic study, who were diagnosed with IBGC3 and wanted to share their experiences...
2016: SpringerPlus
https://www.readbyqxmd.com/read/27671522/primary-familial-brain-calcification-in-the-ibgc2-kindred-all-linkage-roads-lead-to-slc20a2
#2
Karen Grütz, Claudia B Volpato, Aloysius Domingo, Daniel Alvarez-Fischer, Uwe Gebert, Günther Schifferle, Ebba Buffone, Zbigniew K Wszolek, Rosa Rademakers, Andreas Ferbert, Andrew A Hicks, Christine Klein, Peter P Pramstaller, Ana Westenberger
BACKGROUND: Linkage analyses of families with primary familial brain calcification (formerly idiopathic basal ganglia calcification [IBGC]) identified 3 candidate loci (IBGC1-3). Recently, SLC20A2 mutations were found in the IBGC1 and IBGC3 families, merging these 2 loci. We here elucidate the genetic cause of primary familial brain calcification in the 'IBGC2' kindred. METHODS: We sequenced known primary familial brain calcification genes and quantified SLC20A2 and PDGFB...
September 27, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/26923164/the-type-iii-transporters-pit-1-and-pit-2-are-the-major-sodium-dependent-phosphate-transporters-in-the-mice-and-human-brains
#3
Masatoshi Inden, Masaki Iriyama, Miho Zennami, Shin-Ichiro Sekine, Akira Hara, Mitsunori Yamada, Isao Hozumi
PiT-1/SLC20A1 and PiT-2/SLC20A2 are members of the mammalian type-III inorganic phosphate (Pi) transporters encoded by the SLC20 genes. The broad distribution of SLC20A1 and SLC20A2 mRNAs in mammalian tissues is compatible with housekeeping maintenance of intracellular Pi homeostasis by transporting Pi from intrastitial fluid for normal cellular functions. Recently, mutations of SLC20A2 have been found in patients with idiopathic basal ganglia calcification (IBGC), also known as Fahr's disease. However, the localization of PiT-1 and PiT-2 in the normal brain has not been clarified yet...
April 15, 2016: Brain Research
https://www.readbyqxmd.com/read/26635128/familial-idiopathic-basal-ganglia-calcification-histopathologic-features-of-an-autopsied-patient-with-an-slc20a2-mutation
#4
Tadashi Kimura, Takeshi Miura, Kenju Aoki, Shoji Saito, Hiroaki Hondo, Takuya Konno, Akio Uchiyama, Takeshi Ikeuchi, Hitoshi Takahashi, Akiyoshi Kakita
Idiopathic basal ganglia calcification (IBGC), or Fahr's disease, is a neurological disorder characterized by widespread calcification in the brain. Recently, several causative genes have been identified, but the histopathologic features of the brain lesions and expression of the gene products remain unclear. Here, we report the clinical and autopsy features of a 62-year-old Japanese man with familial IBGC, in whom an SLC20A2 mutation was identified. The patient developed mild cognitive impairment and parkinsonism...
August 2016: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/26622362/idiopathic-basal-ganglia-calcification-presenting-as-schizophrenia-like-psychosis-and-obsessive-compulsive-symptoms-a-case-report
#5
Bing Pan, Weibo Liu, Qiaozhen Chen, Leilei Zheng, Yingying Bao, Huichun Li, Risheng Yu
Idiopathic basal ganglia calcification (IBGC) is a rare neurodegenerative disorder characterized by the deposition of calcium in the brain and variable combinations of movement disorders, gait impairment and neuropsychiatric symptoms. Few reports have described psychiatric manifestations as early symptoms of IBGC. The present study reports the case of a middle-aged man with schizophrenia-like psychosis and obsessive-compulsive symptoms as the first manifestations of IBGC. The response of the patient to olanzapine and fluoxetine suggests that low-dose olanzapine is effective and should be increased cautiously to avoid worsening parkinsonism and that fluoxetine is an effective drug for the treatment of obsessive-compulsive symptoms in IBGC...
August 2015: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/26353387/-molecular-mechanism-of-idiopathic-basal-ganglia-calcification
#6
REVIEW
Cheng Wang, Xuan Xu, Lulu Li, Tao Wang, Min Zhang, Lu Shen, Beisha Tang, Jingyu Liu
Idiopathic basal ganglia calcification (IBGC), also known as Fahr’s disease, is an inheritable neurodegenerative syndrome characterized by mineral deposits in the basal ganglia and other brain regions. Patients with IBGC are often accompanied with movement disorders, cognitive impairment as well as psychiatric abnormalities. So far, no therapeutic drug has been developed for the treatment of IBGC. Recently, genetic studies have identified several genes associated with IBGC, including SLC20A2, PDGFRB, PDGFB, ISG15 and XPR1...
August 2015: Yi Chuan, Hereditas
https://www.readbyqxmd.com/read/26246920/idiopathic-basal-ganglia-calcification-presented-with-impulse-control-disorder
#7
Cem Sahin, Mustafa Levent, Gulhan Akbaba, Bilge Kara, Emine Nese Yeniceri, Betul Battaloglu Inanc
Primary familial brain calcification (PFBC), also referred to as Idiopathic Basal Ganglia Calcification (IBGC) or "Fahr's disease," is a clinical condition characterized by symmetric and bilateral calcification of globus pallidus and also basal ganglions, cerebellar nuclei, and other deep cortical structures. It could be accompanied by parathyroid disorder and other metabolic disturbances. The clinical features are dysfunction of the calcified anatomic localization. IBGC most commonly presents with mental damage, convulsion, parkinson-like clinical picture, and neuropsychiatric behavior disorders; however, presentation with impulse control disorder is not a frequent presentation...
2015: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/26129893/brain-calcification-process-and-phenotypes-according-to-age-and-sex-lessons-from-slc20a2-pdgfb-and-pdgfrb-mutation-carriers
#8
Gaël Nicolas, Camille Charbonnier, Roberta Rodrigues de Lemos, Anne-Claire Richard, Olivier Guillin, David Wallon, Andrea Legati, Daniel Geschwind, Giovanni Coppola, Thierry Frebourg, Dominique Campion, João Ricardo Mendes de Oliveira, Didier Hannequin
Primary Familial Brain Calcification (PFBC) is a dominantly inherited cerebral microvascular calcifying disorder with diverse neuropsychiatric expression. Three causative genes have been identified: SLC20A2, PDGFRB and, recently, PDGFB, whose associated phenotype has not yet been extensively studied. We included in the largest published case series of genetically confirmed PFBC, 19 PDGFB (including three new mutations), 24 SLC20A2 (including 4 new mutations), and 14 PDGFRB mutation carriers, from two countries (France and Brazil)...
October 2015: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/25636102/-clinical-features-of-familial-idiopathic-basal-ganglia-calcification-caused-by-a-novel-mutation-in-the-slc20a2-gene
#9
Min Zhu, Cheng Fang, Xiaobing Li, Meihong Zhou, Hui Wan, Daojun Hong
OBJECTIVE: To describe clinical and genetic feature in a Chinese family with familial idiopathic basal ganglia calcification 3 (IBGC-3) caused by a novel mutation in the SLC20A2 gene. METHODS: Clinical data was collected from a family with familial IBGC-3. All of the family members underwent cerebral CT. Potential mutation of the SLC20A2 gene were screened in the proband, 5 symptomatic patients, 5 asymptomatic family members, and 100 healthy Chinese controls. Exon 8 of the SLC20A2 gene was cloned into plasmid and sequenced...
February 2015: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/25348593/fahr-s-disease-linked-to-a-novel-slc20a2-gene-mutation-manifesting-with-dynamic-aphasia
#10
Laura Brighina, Enrico Saracchi, Francesca Ferri, Monica Gagliardi, Patrizia Tarantino, Sabrina Morzenti, Monica Musarra, Mirko Patassini, Grazia Annesi, Carlo Ferrarese
BACKGROUND: Idiopathic basal ganglia calcification (IBGC), also known as Fahr's disease, is a rare disorder characterized by widespread cerebral calcifications, an autosomal dominant pattern of inheritance and clinical and genetic heterogeneity. The recently identified IBGC gene, SLC20A2, encodes for type III sodium-dependent phosphate transporter 2 and its loss-of-function mutations may lead to the regional accumulation of inorganic phosphate in the brain, causing calcium phosphate deposition...
2014: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/25292412/idiopathic-basal-ganglia-calcification-associated-pdgfrb-mutations-impair-the-receptor-signalling
#11
Florence A Arts, Amélie I Velghe, Monique Stevens, Jean-Christophe Renauld, Ahmed Essaghir, Jean-Baptiste Demoulin
Platelet-derived growth factors (PDGF) bind to two related receptor tyrosine kinases, which are encoded by the PDGFRA and PDGFRB genes. Recently, heterozygous PDGFRB mutations have been described in patients diagnosed with idiopathic basal ganglia calcification (IBGC or Fahr disease), a rare inherited neurological disorder. The goal of the present study was to determine whether these mutations had a positive or negative impact on the PDGFRB activity. We first showed that the E1071V mutant behaved like wild-type PDGFRB and may represent a polymorphism unrelated to IBGC...
January 2015: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/24946076/pdgf-pericytes-and-the-pathogenesis-of-idiopathic-basal-ganglia-calcification-ibgc
#12
REVIEW
Christer Betsholtz, Annika Keller
Platelet-derived growth factors (PDGFs) are important mitogens for various types of mesenchymal cells, and as such, they exert critical functions during organogenesis in mammalian embryonic and early postnatal development. Increased or ectopic PDGF activity may also cause or contribute to diseases such as cancer and tissue fibrosis. Until recently, no loss-of-function (LOF) mutations in PDGF or PDGF receptor genes were reported as causally linked to a human disease. This changed in 2013 when reports appeared on presumed LOF mutations in the genes encoding PDGF-B and its receptor PDGF receptor-beta (PDGF-Rβ) in familial idiopathic basal ganglia calcification (IBGC), a brain disease characterized by anatomically localized calcifications in or near the blood microvessels...
July 2014: Brain Pathology
https://www.readbyqxmd.com/read/24796542/genetic-screening-and-functional-characterization-of-pdgfrb-mutations-associated-with-basal-ganglia-calcification-of-unknown-etiology
#13
Monica Sanchez-Contreras, Matthew C Baker, NiCole A Finch, Alexandra Nicholson, Aleksandra Wojtas, Zbigniew K Wszolek, Owen A Ross, Dennis W Dickson, Rosa Rademakers
Three causal genes for idiopathic basal ganglia calcification (IBGC) have been identified. Most recently, mutations in PDGFRB, encoding a member of the platelet-derived growth factor receptor family type β, and PDGFB, encoding PDGF-B, the specific ligand of PDGFRβ, were found implicating the PDGF-B/PDGFRβ pathway in abnormal brain calcification. In this study, we aimed to identify and study mutations in PDGFRB and PDGFB in a series of 26 patients from the Mayo Clinic Florida Brain Bank with moderate to severe basal ganglia calcification (BCG) of unknown etiology...
August 2014: Human Mutation
https://www.readbyqxmd.com/read/24604296/pdgfb-partial-deletion-a-new-rare-mechanism-causing-brain-calcification-with-leukoencephalopathy
#14
Gaël Nicolas, Anne Rovelet-Lecrux, Cyril Pottier, Olivier Martinaud, David Wallon, Louis Vernier, Gérard Landemore, Françoise Chapon, Carol Prieto-Morin, Elisabeth Tournier-Lasserve, Thierry Frébourg, Dominique Campion, Didier Hannequin
Idiopathic basal ganglia calcification (IBGC) is a progressive cerebral disorder with diverse motor, cognitive, and psychiatric expression. It is inherited as an autosomal dominant trait. Three IBGC-causing genes have been identified in the past 2 years: SLC20A2, PDGFRB, and PDGFB. Biological and genetic evidence showed that loss of function of either SLC20A2 or the PDGFB/PDGFRB pathway was the mechanism underlying calcification in patients with a mutation. Recently, in a study focusing on SLC20A2, a large deletion at this locus was reported...
June 2014: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/24518837/a-de-novo-nonsense-pdgfb-mutation-causing-idiopathic-basal-ganglia-calcification-with-laryngeal-dystonia
#15
Gaël Nicolas, Agnès Jacquin, Christel Thauvin-Robinet, Anne Rovelet-Lecrux, Olivier Rouaud, Cyril Pottier, Marie-Hélène Aubriot-Lorton, Stéphane Rousseau, David Wallon, Christian Duvillard, Yannick Béjot, Thierry Frébourg, Maurice Giroud, Dominique Campion, Didier Hannequin
Idiopathic basal ganglia calcification (IBGC) is characterized by brain calcification and a wide variety of neurologic and psychiatric symptoms. In families with autosomal dominant inheritance, three causative genes have been identified: SLC20A2, PDGFRB, and, very recently, PDGFB. Whereas in clinical practice sporadic presentation of IBGC is frequent, well-documented reports of true sporadic occurrence are rare. We report the case of a 20-year-old woman who presented laryngeal dystonia revealing IBGC. Her healthy parents' CT scans were both normal...
October 2014: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/24463626/evaluation-of-slc20a2-mutations-that-cause-idiopathic-basal-ganglia-calcification-in-japan
#16
Megumi Yamada, Masaki Tanaka, Mari Takagi, Seiju Kobayashi, Yoshiharu Taguchi, Shutaro Takashima, Kortaro Tanaka, Tetsuo Touge, Hiroyuki Hatsuta, Shigeo Murayama, Yuichi Hayashi, Masayuki Kaneko, Hiroyuki Ishiura, Jun Mitsui, Naoki Atsuta, Gen Sobue, Nobuyuki Shimozawa, Takashi Inuzuka, Shoji Tsuji, Isao Hozumi
OBJECTIVE: To investigate the clinical, genetic, and neuroradiologic presentations of idiopathic basal ganglia calcification (IBGC) in a nationwide study in Japan. METHODS: We documented clinical and neuroimaging data of a total of 69 subjects including 23 subjects from 10 families and 46 subjects in sporadic cases of IBGC in Japan. Mutational analysis of SLC20A2 was performed. RESULTS: Six new mutations in SLC20A2 were found in patients with IBGC: 4 missense mutations, 1 nonsense mutation, and 1 frameshift mutation...
February 25, 2014: Neurology
https://www.readbyqxmd.com/read/24434185/quetiapine-responsive-catatonia-in-an-autistic-patient-with-comorbid-bipolar-disorder-and-idiopathic-basal-ganglia-calcification
#17
Makoto Ishitobi, Masao Kawatani, Mizuki Asano, Hirotaka Kosaka, Takashi Goto, Michio Hiratani, Yuji Wada
BACKGROUND: Bipolar disorder (BD) has been linked with the manifestation of catatonia in subjects with autism spectrum disorders (ASD). Idiopathic basal ganglia calcification (IBGC) is characterized by movement disorders and various neuropsychiatric disturbances including mood disorder. CASE: We present a patient with ASD and IBGC who developed catatonia presenting with prominent dystonic feature caused by comorbid BD, which was treated effectively with quetiapine...
October 2014: Brain & Development
https://www.readbyqxmd.com/read/24286000/mutation-analysis-of-slc20a2-and-spp2-as-candidate-genes-for-familial-idiopathic-basal-ganglia-calcification
#18
Fereshteh Ashtari, Kioomars Saliminejad, Ali Ahani, Koorosh Kamali, Zhamak Pahlevanzadeh, Hamid Reza Khorram Khorshid
BACKGROUND: Familial Idiopathic Basal Ganglia Calcification (IBGC) is a rare neurodegenerative disorder which is usually transmitted as an autosomal dominant trait. IBGC is genetically heterogeneous and SLC20A2, on chromosome 8p21.1-8q11.23, is the first gene found in IBGC-affected patients with varied ancestry. On the other hand, several candidate genes for IBGC on chromosome 2q37, including the SPP2 gene, may play a role in inhibiting calcification. METHODS: Totally, 22 members of a three generational Iranian family affected by IBGC, with an autosomal dominant pattern of inheritance were included in this study...
October 2013: Avicenna Journal of Medical Biotechnology
https://www.readbyqxmd.com/read/24135862/slc20a2-and-thap1-deletion-in-familial-basal-ganglia-calcification-with-dystonia
#19
Matt Baker, Audrey J Strongosky, Monica Y Sanchez-Contreras, Shan Yang, Will Ferguson, Donald B Calne, Susan Calne, A Jon Stoessl, Judith E Allanson, Daniel F Broderick, Michael L Hutton, Dennis W Dickson, Owen A Ross, Zbigniew K Wszolek, Rosa Rademakers
Idiopathic basal ganglia calcification (IBGC) is characterized by bilateral calcification of the basal ganglia associated with a spectrum of neuropsychiatric and motor syndromes. In this study, we set out to determine the frequency of the recently identified IBGC gene SLC20A2 in 27 IBGC cases from the Mayo Clinic Florida Brain Bank using both Sanger sequencing and TaqMan copy number analysis to cover the complete spectrum of possible mutations. We identified SLC20A2 pathogenic mutations in two of the 27 cases of IBGC (7 %)...
March 2014: Neurogenetics
https://www.readbyqxmd.com/read/24065723/phenotypic-spectrum-of-probable-and-genetically-confirmed-idiopathic-basal-ganglia-calcification
#20
MULTICENTER STUDY
Gaël Nicolas, Cyril Pottier, Camille Charbonnier, Lucie Guyant-Maréchal, Isabelle Le Ber, Jérémie Pariente, Pierre Labauge, Xavier Ayrignac, Luc Defebvre, David Maltête, Olivier Martinaud, Romain Lefaucheur, Olivier Guillin, David Wallon, Boris Chaumette, Philippe Rondepierre, Nathalie Derache, Guillaume Fromager, Stéphane Schaeffer, Pierre Krystkowiak, Christophe Verny, Snejana Jurici, Mathilde Sauvée, Marc Vérin, Thibaud Lebouvier, Olivier Rouaud, Christel Thauvin-Robinet, Stéphane Rousseau, Anne Rovelet-Lecrux, Thierry Frebourg, Dominique Campion, Didier Hannequin
Idiopathic basal ganglia calcification is characterized by mineral deposits in the brain, an autosomal dominant pattern of inheritance in most cases and genetic heterogeneity. The first causal genes, SLC20A2 and PDGFRB, have recently been reported. Diagnosing idiopathic basal ganglia calcification necessitates the exclusion of other causes, including calcification related to normal ageing, for which no normative data exist. Our objectives were to diagnose accurately and then describe the clinical and radiological characteristics of idiopathic basal ganglia calcification...
November 2013: Brain: a Journal of Neurology
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