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Nina Jensen, Henrik Daa Schrøder, Eva Kildall Hejbøl, Ernst-Martin Füchtbauer, João Ricardo Mendes de Oliveira, Lene Pedersen
Familial idiopathic basal ganglia calcification (FIBGC) is a neurodegenerative disorder with neuropsychiatric and motor symptoms. Deleterious mutations in SLC20A2, encoding the type III sodium-dependent phosphate transporter 2 (PiT2), were recently linked to FIBGC in almost 50% of the families reported worldwide. Here, we show that knockout of Slc20a2 in mice causes calcifications in the thalamus, basal ganglia, and cortex, demonstrating that reduced PiT2 expression alone can cause brain calcifications.
November 2013: Journal of Molecular Neuroscience: MN
R J Galdino da Silva, I C L Pereira, J R M Oliveira
Familial idiopathic basal ganglia calcification (FIBGC), also known as "Fahr's disease," is a neuropsychiatric disorder with motor and cognitive symptoms. It is characterized pathologically by bilateral calcification most commonly in the basal ganglia and also in other brain regions such as the thalamus and cerebellum. A recent report by Wang et al. (2012) discovered multiple families with FIBGC carrying mutations in the SLC20A2 gene, encoding the inorganic phosphate transporter PiT-2, which segregated in an autosomal dominant pattern...
June 2013: Journal of Molecular Neuroscience: MN
Yang Zhang, Xianan Guo, Anhua Wu
Familial idiopathic basal ganglia calcification (FIBGC) is a rare, autosomal dominant disorder involving bilateral calcification of the basal ganglia. To identify gene mutations related to a Chinese FIBGC lineage, we evaluated available individuals in the family using CT scans. DNA was extracted from the peripheral blood of available family members, and both exonic and flanking intronic sequences of the SLC20A2 gene were amplified by PCR and then sequenced. Non-denaturing polyacrylamide gel electrophoresis (PAGE) was used to confirm the presence of mutations...
2013: PloS One
Claudia Béu Volpato, Alessandro De Grandi, Ebba Buffone, Maurizio Facheris, Uwe Gebert, Günther Schifferle, Rudolf Schönhuber, Andrew Hicks, Peter P Pramstaller
Familial idiopathic basal ganglia calcification (FIBGC) is an inherited neurodegenerative disorder characterized by the accumulation of calcium deposits in different brain regions, particularly in the basal ganglia. FIBGC usually follows an autosomal dominant pattern of inheritance. Despite the mapping to chromosome 14q of a susceptibility locus for IBGC (IBCG1) in one family, this locus has been excluded in several others, demonstrating genetic heterogeneity in this disorder. The etiology of this disorder thus remains largely unknown...
November 2009: Journal of Molecular Neuroscience: MN
Claudia Béu Volpato, Alessandro De Grandi, Ebba Buffone, Irene Pichler, Uwe Gebert, Günther Schifferle, Rudolf Schönhuber, Peter P Pramstaller
Familial Idiopathic Basal Ganglia Calcification (FIBGC) is a neurodegenerative syndrome that usually follows an autosomal dominant pattern of inheritance. Linkage to only one locus on chromosome 14q (IBCG1) has been described so far. We identified and characterized a large multigenerational Italian family from a population isolate with 14 FIBGC affected members. Linkage analysis excluded the IBCG1 locus, thus demonstrating further locus heterogeneity for this disease.
October 5, 2008: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
Isabelle Le Ber, Rose-Marie Marié, Benoît Chabot, Catherine Lalevée, Gilles-Louis Defer
Idiopathic basal ganglia calcification (FIBGC) is a rare autosomal dominant neurodegenerative disease, the main clinical signs of which are parkinsonism, cognitive deterioration and/or psychiatric troubles. Familial forms are rare. The underlying basis is not known. We performed detailed neurological, neuropsychological, brain CT scans and MRI evaluations in 15 patients of a large FIBGC family. Three patients also underwent a (18)FDG-PET scan study not previously performed in patients with FIBGC. Basal ganglia calcifications were present in 8 individuals, 3 of which had schizophrenia-like psychosis, cognitive and/or extrapyramidal signs...
July 15, 2007: Journal of the Neurological Sciences
I Le Ber, R-M Marié, C Lalevée, B Chabot, S Allouche, G L Defer
Familial idiopathic basal ganglia calcification (FIBGC) is a rare condition and its pathophysiology has not so far been elucidated. We report the results of a clinical study in two patients of a family affected with FIBGC. Brain imaging with 18-FDG-PET was performed in one. Psychiatric and cognitive troubles were the main clinical symptoms. Basal ganglia calcifications were associated with white matter lesions. The PET study performed in one patient revealed a striatal and a posterior cingulate hypometabolism...
January 2003: Revue Neurologique
B Chabot, C Roulland, S Dollfus
BACKGROUND: Familial idiopathic basal ganglia calcification (FIBGC) is generally associated with neurological and psychiatric symptoms. An association between FIBGC and schizophrenia has been described but it remains uncertain. We studied the relationship between the presence and extent of basal ganglia calcification and schizophrenia in a multiply affected family. METHOD: Symmetrical basal ganglia calcifications (BGC) were detected on computerized tomography (CT) in a schizophrenic proband and led us to carry out CTs and standardized psychiatric evaluations (SADS--Endicott & Spitzer, 1978) in all available first-degree relatives (mother and six siblings)...
May 2001: Psychological Medicine
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