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Takuma Nishimoto, Fumiaki Oka, Hideyuki Ishihara, Mizuya Shinoyama, Michiyasu Suzuki
BACKGROUND: Idiopathic basal ganglia calcification (IBGC) is a rare neurodegenerative disorder characterized by symmetric intracranial calcium deposition. We report a patient with IBGC associated with cerebral infarction due to impairment of cerebrovascular reactivity based on single-photon emission computed tomography (SPECT) with acetazolamide challenge. CASE PRESENTATION: A 66-year-old male presented with right conjugate deviation, right hemiparesis and total aphasia due to a convulsive seizure...
April 17, 2018: BMC Neurology
Isao Hozumi, Hisaka Kurita, Kazuhiro Ozawa, Nobuyuki Furuta, Masatoshi Inden, Shin-Ichiro Sekine, Megumi Yamada, Yuichi Hayashi, Akio Kimura, Takashi Inuzuka, Mitsuru Seishima
INTRODUCTION: Idiopathic basal ganglia calcification (IBGC), also called Fahr's disease or recently primary familial brain calcification (PFBC), is characterized by abnormal deposits of minerals including calcium mainly and phosphate in the brain. Mutations in SLC20A2 (IBGC1 (merged with former IBGC2 and IBGC3)), which encodes PiT-2, a phosphate transporter, is the major cause of IBGC. Recently, Slc20a2-KO mice have been showed to have elevated levels of inorganic phosphorus (Pi) in cerebrospinal fluid (CSF); however, CSF Pi levels in patients with IBGC have not been fully examined...
May 15, 2018: Journal of the Neurological Sciences
Yan Ding, Hui-Qing Dong
Background: Idiopathic basal ganglia calcification (IBGC) is a genetic disorder characterized by bilateral basal ganglia calcification and neural degeneration. In this study, we reported a new SLC2OA2 mutation of IBGC and reviewed relevant literature to explore the association between phenotypes and genotypes in Chinese IBGC patients. Methods: Clinical information of the proband and her relatives were collected comprehensively. Blood samples of both the patient and her father were obtained, and genetic screening related to IBGC was performed using second generation sequencing with their consent...
April 5, 2018: Chinese Medical Journal
Shin-Ichiro Sekine, Takayuki Kondo, Nagahisa Murakami, Keiko Imamura, Takako Enami, Ran Shibukawa, Kayoko Tsukita, Misato Funayama, Masatoshi Inden, Hisaka Kurita, Isao Hozumi, Haruhisa Inoue
Idiopathic basal ganglia calcification (IBGC), also known as Fahr disease or primary familial brain calcifications (PFBC), is a rare neurodegenerative disorder characterized by calcium deposits in basal ganglia and other brain regions, causing neuropsychiatric and motor symptoms. We established human induced pluripotent stem cells (iPSCs) from an IBGC patient. The established IBGC-iPSCs carried SLC20A2 c.1848G>A mutation (p.W616* of translated protein PiT2), and also showed typical iPSC morphology, pluripotency markers, normal karyotype, and the ability of in vitro differentiation into three-germ layers...
October 2017: Stem Cell Research
Naoko Takase, Masatoshi Inden, Shin-Ichiro Sekine, Yumi Ishii, Hiroko Yonemitsu, Wakana Iwashita, Hisaka Kurita, Yutaka Taketani, Isao Hozumi
PiT-1 (encoded by SLC20A1) and PiT-2 (encoded by SLC20A2) are type-III sodium-dependent phosphate cotransporters (NaPiTs). Recently, SLC20A2 mutations have been found in patients with idiopathic basal ganglia calcification (IBGC), and were predicted to bring about an inability to transport Pi from the extracellular environment. Here we investigated the effect of low Pi loading on the human neuroblastoma SH-SY5Y and the human glioblastoma A172 cell lines. The results show a different sensitivity to low Pi loading and differential regulation of type-III NaPiTs in these cells...
July 18, 2017: Scientific Reports
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
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...
December 2016: Movement Disorders: Official Journal of the Movement Disorder Society
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
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
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
Cheng Wang, Xuan Xu, Lu-lu Li, Tao Wang, Min Zhang, Lu Shen, Bei-sha Tang, Jing-yu 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
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
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
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
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
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
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
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
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
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
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