Literature DB >> 15596772

Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease).

J R M Oliveira1, E Spiteri, M J Sobrido, S Hopfer, J Klepper, T Voit, J Gilbert, Z K Wszolek, D B Calne, A J Stoessl, M Hutton, B V Manyam, F Boller, M Baquero, D H Geschwind.   

Abstract

Familial idiopathic basal ganglia calcification (IBGC, Fahr disease) is an inherited neurologic condition characterized by basal ganglia and extra-basal ganglia brain calcifications, parkinsonism, and neuropsychiatric symptoms. The authors examined six families for linkage to the previously identified genetic locus (IBGC1) located on chromosome 14q. The authors found evidence against linkage to IBGC1 in five of the six families supporting previous preliminary studies demonstrating genetic heterogeneity in familial IBGC.

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Mesh：

Year:  2004        PMID： 15596772     DOI： 10.1212/01.wnl.0000145601.88274.88

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  34 in total

1.  Fahr's disease detected on a head CT scan in patient with "epileptic syncope" in the Emergency Department.

Authors:  Alberto Sentimentale; Marco Matteoli; Morena Giovannelli; Chiara De Dominicis; Massimiliano Corsino; Enrico Ferri; Salvatore Di Somma
Journal:  Intern Emerg Med       Date:  2010-01-30       Impact factor: 3.397

2.  Analysis of candidate genes at the IBGC1 locus associated with idiopathic basal ganglia calcification ("Fahr's disease").

Authors:  J R M Oliveira; M J Sobrido; E Spiteri; S Hopfer; G Meroni; E Petek; M Baquero; D H Geschwind
Journal:  J Mol Neurosci       Date:  2007       Impact factor: 3.444

3.  Fahr's disease: bilateral symmetrical striopallidodentate calcification in two brothers with two distinct presentations.

Authors:  Abdalla Bowirrat; Mustafa Yassin; Faozi Artoul; Suheil Artul
Journal:  BMJ Case Rep       Date:  2013-09-06

4.  Fahr's disease: variable presentations in a family.

Authors:  Fereshteh Ashtari; Farzad Fatehi
Journal:  Neurol Sci       Date:  2010-07-13       Impact factor: 3.307

5.  Novel mutation of SLC20A2 in an Italian patient presenting with migraine.

Authors:  Elisa Rubino; Elisa Giorgio; Salvatore Gallone; Lorenzo Pinessi; Laura Orsi; Salvatore Gentile; Sergio Duca; Alfredo Brusco
Journal:  J Neurol       Date:  2014-09-02       Impact factor: 4.849

6.  Analysis of the CTAGE5 P521A variation with the risk of familial idiopathic basal ganglia calcification in an Iranian population.

Authors:  Kioomars Saliminejad; Fereshteh Ashtari; Koroosh Kamali; Haleh Edalatkhah; Hamid Reza Khorram Khorshid
Journal:  J Mol Neurosci       Date:  2012-10-05       Impact factor: 3.444

7.  Primary familial brain calcification: update on molecular genetics.

Authors:  Ilaria Taglia; Vincenzo Bonifati; Andrea Mignarri; Maria Teresa Dotti; Antonio Federico
Journal:  Neurol Sci       Date:  2015-02-17       Impact factor: 3.307

8.  Idiopathic basal ganglia calcification presenting as schizophrenia-like psychosis and obsessive-compulsive symptoms: A case report.

Authors:  Bing Pan; Weibo Liu; Qiaozhen Chen; Leilei Zheng; Yingying Bao; Huichun Li; Risheng Yu
Journal:  Exp Ther Med       Date:  2015-05-27       Impact factor: 2.447

9.  Would You Recognize Fahr's Disease if You Saw It?

Authors:  Dharmendra Goyal; Mashal Khan; Bushra Qureshi; Catherine Mier; Steven Lippmann
Journal:  Innov Clin Neurosci       Date:  2014-01

10.  Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.

Authors:  Sandy Chan Hsu; Renee L Sears; Roberta R Lemos; Beatriz Quintáns; Alden Huang; Elizabeth Spiteri; Lisette Nevarez; Catherine Mamah; Mayana Zatz; Kerrie D Pierce; Janice M Fullerton; John C Adair; Jon E Berner; Matthew Bower; Henry Brodaty; Olga Carmona; Valerija Dobricić; Brent L Fogel; Daniel García-Estevez; Jill Goldman; John L Goudreau; Suellen Hopfer; Milena Janković; Serge Jaumà; Joanna C Jen; Suppachok Kirdlarp; Joerg Klepper; Vladimir Kostić; Anthony E Lang; Agnès Linglart; Melissa K Maisenbacher; Bala V Manyam; Pietro Mazzoni; Zofia Miedzybrodzka; Witoon Mitarnun; Philip B Mitchell; Jennifer Mueller; Ivana Novaković; Martin Paucar; Henry Paulson; Sheila A Simpson; Per Svenningsson; Paul Tuite; Jerrold Vitek; Suppachok Wetchaphanphesat; Charles Williams; Michele Yang; Peter R Schofield; João R M de Oliveira; María-Jesús Sobrido; Daniel H Geschwind; Giovanni Coppola
Journal:  Neurogenetics       Date:  2013-01-20       Impact factor: 2.660
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