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Idiopathic basal ganglia calcification 1(IBGC1)

MedGen UID:
97952
Concept ID:
C0393590
Disease or Syndrome
Synonyms: Basal ganglia calcification, idiopathic, 3; Bilateral striopallidodentate calcinosis; Cerebral calcification nonarteriosclerotic idiopathic adult-onset; Fahr disease, familial (formerly); Fahr's syndrome; Familial Idiopathic Basal Ganglia Calcification; Familial Idiopathic Basal Ganglia Calcification 3; Ferrocalcinosis, cerebrovascular; IBGC1; Primary Familial Brain Calcification; Primary Familial Brain Calcification 1; Primary Familial Brain Calcification 3; Striopallidodentate calcinosis autosomal dominant adult-onset
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
not inherited
MedGen UID:
832438
Concept ID:
CN227390
Intellectual Product
Source: Orphanet
Describes a disorder that is not inherited.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
not inherited (Orphanet)
SNOMED CT: Fahr disease (110997000); Fahr's syndrome (110997000); Idiopathic nonarteriosclerotic cerebrovascular calcification (110997000); Cerebral symmetric calcification (110997000); Cerebrovascular ferrocalcinosis (110997000); Fahr syndrome (110997000)
 
Genes (locations): PDGFB (22q13.1); PDGFRB (5q32); SLC20A2 (8p11.21)
OMIM®: 213600
Orphanet: ORPHA1980

Disease characteristics

Excerpted from the GeneReview: Primary Familial Brain Calcification
Primary familial brain calcification (PFBC) is a neurodegenerative disorder with characteristic calcium deposits in the basal ganglia and other brain areas visualized on neuroimaging. Most affected individuals are in good health during childhood and young adulthood and typically present in the fourth to fifth decade with gradually progressive neuropsychiatric and movement disorders. The main manifestations include clumsiness, fatigability, unsteady gait, slow or slurred speech, dysphagia, involuntary movements, or muscle cramping. Migraine is frequent and seizures of various types may also occur. Neuropsychiatric symptoms, often the first or most prominent manifestations, range from mild difficulty with concentration and memory to changes in personality and/or behavior, to psychosis and dementia. [from GeneReviews]
Authors:
Maria J Sobrido  |  Giovanni Coppola  |  Joao Oliveira, et. al.   view full author information

Additional descriptions

From OMIM
Familial idiopathic basal ganglia calcification is an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Patients with calcifications can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase, and parathyroid hormone are normal. The typical age at clinical onset is between 30 and 50 years (summary by Wang et al., 2012). Calcification of the basal ganglia is a nonspecific finding in many medical conditions, including infectious, metabolic, and genetic syndromes. In addition, calcification of the basal ganglia is observed as an incidental finding in approximately 0.7 to 1.2% of CT scans (Koller et al., 1979; Harrington et al., 1981; Forstl et al., 1992). These incidental calcifications are usually benign and have no clear etiology, especially in patients over 60 years of age (Geschwind et al., 1999). Forstl et al. (1992) found no increased risk for dementia, cerebral infarction, seizures, alcoholism, vertigo, or headache in 166 patients with calcification of the basal ganglia compared to 622 individuals without calcification. Genetic Heterogeneity of Idiopathic Basal Ganglia Calcification IBGC2 (606656) has been mapped to chromosome 2q37. IBGC4 (615007) is caused by mutation in the PDGFRB gene (173410) on chromosome 5q32; IBGC5 (615483) is caused by mutation in the PDGFB gene (190040) on chromosome 22q12; and IBGC6 (616413) is caused by mutation in the XPR1 gene (605237) on 1q25. See 114100 for a childhood-onset form of idiopathic basal ganglia calcification. The symbol IBGC3 previously referred to the locus on chromosome 8p11 that includes the SLC20A2 gene (Dai et al., 2010). However, the family that originally defined the putative IBGC1 locus on chromosome 14q (Geschwind et al., 1999) was later found to carry a pathogenic mutation in the SLC20A2 gene (Hsu et al., 2013), and the IBGC locus on chromosome 14q has not been replicated (Oliveira et al., 2004; Hsu et al., 2013). Thus, the symbol IBGC1 now refers to the disorder caused by mutation in the SLC20A2 gene on chromosome 8p11 and the symbol IGBC3 is no longer used.  http://www.omim.org/entry/213600
From GHR
Familial idiopathic basal ganglia calcification (FIBGC, formerly known as Fahr disease) is a condition characterized by abnormal deposits of calcium (calcification) in the brain. These calcium deposits typically occur in the basal ganglia, which are structures deep within the brain that help start and control movement; however, other brain regions can also be affected.The signs and symptoms of FIBGC include movement disorders and psychiatric or behavioral difficulties. These problems begin in adulthood, usually in a person's thirties. The movement difficulties experienced by people with FIBGC include involuntary tensing of various muscles (dystonia), problems coordinating movements (ataxia), and uncontrollable movements of the limbs (choreoathetosis). Affected individuals often have seizures as well. The psychiatric and behavioral problems include difficulty concentrating, memory loss, changes in personality, a distorted view of reality (psychosis), and decline in intellectual function (dementia). An estimated 20 to 30 percent of people with FIBGC have one of these psychiatric disorders.The severity of this condition varies among affected individuals; some people have no symptoms related to the brain calcification, whereas other people have significant movement and psychiatric problems.  https://ghr.nlm.nih.gov/condition/familial-idiopathic-basal-ganglia-calcification

Clinical features

Calcification of the small brain vessels
MedGen UID:
500929
Concept ID:
CN002275
Finding
Deposition of calcium salts within small blood vessels of the brain.
Basal ganglia calcification
MedGen UID:
234651
Concept ID:
C1389280
Pathologic Function
The presence of calcium deposition affecting one or more structures of the basal ganglia.
Calcification of the small brain vessels
MedGen UID:
500929
Concept ID:
CN002275
Finding
Deposition of calcium salts within small blood vessels of the brain.
Basal ganglia calcification
MedGen UID:
234651
Concept ID:
C1389280
Pathologic Function
The presence of calcium deposition affecting one or more structures of the basal ganglia.
Dense calcifications in the cerebellar dentate nucleus
MedGen UID:
395215
Concept ID:
C1859273
Finding
Calcification of the small brain vessels
MedGen UID:
500929
Concept ID:
CN002275
Finding
Deposition of calcium salts within small blood vessels of the brain.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIdiopathic basal ganglia calcification 1
Follow this link to review classifications for Idiopathic basal ganglia calcification 1 in Orphanet.

Recent clinical studies

Etiology

Brighina L, Saracchi E, Ferri F, Gagliardi M, Tarantino P, Morzenti S, Musarra M, Patassini M, Annesi G, Ferrarese C
Neurodegener Dis 2014;14(3):133-8. Epub 2014 Sep 25 doi: 10.1159/000365216. PMID: 25348593
Nicolas G, Pottier C, Charbonnier C, Guyant-Maréchal L, Le Ber I, Pariente J, Labauge P, Ayrignac X, Defebvre L, Maltête D, Martinaud O, Lefaucheur R, Guillin O, Wallon D, Chaumette B, Rondepierre P, Derache N, Fromager G, Schaeffer S, Krystkowiak P, Verny C, Jurici S, Sauvée M, Vérin M, Lebouvier T, Rouaud O, Thauvin-Robinet C, Rousseau S, Rovelet-Lecrux A, Frebourg T, Campion D, Hannequin D; French IBGC Study Group.
Brain 2013 Nov;136(Pt 11):3395-407. Epub 2013 Sep 24 doi: 10.1093/brain/awt255. PMID: 24065723
Wu YW, Hess CP, Singhal NS, Groden C, Toro C
Pediatr Neurol 2013 Nov;49(5):351-4. Epub 2013 Aug 19 doi: 10.1016/j.pediatrneurol.2013.06.021. PMID: 23968566
Chen WJ, Yao XP, Zhang QJ, Ni W, He J, Li HF, Liu XY, Zhao GX, Murong SX, Wang N, Wu ZY
Gene 2013 Oct 15;529(1):159-62. Epub 2013 Aug 11 doi: 10.1016/j.gene.2013.07.071. PMID: 23939468
Saliminejad K, Ashtari F, Kamali K, Edalatkhah H, Khorram Khorshid HR
J Mol Neurosci 2013 Mar;49(3):614-7. Epub 2012 Oct 5 doi: 10.1007/s12031-012-9898-y. PMID: 23054591

Diagnosis

Calili DK, Mutlu NM, Mutlu Titiz AP, Akcaboy ZN, Aydin EM, Turan IO
J Pak Med Assoc 2016 Aug;66(8):1029-31. PMID: 27524543
Yang CS, Lo CP, Wu MC
BMC Neurol 2016 Mar 8;16:33. doi: 10.1186/s12883-016-0557-8. PMID: 26951767Free PMC Article
Martin JF, Wright EJ 4th, Hill GJ
J Emerg Med 2016 Apr;50(4):667-9. doi: 10.1016/j.jemermed.2015.08.003. PMID: 26433432
Lo Buono V, Corallo F, Costa A, Bramanti P, Marino S
Am J Case Rep 2015 Jun 21;16:382-5. doi: 10.12659/AJCR.893163. PMID: 26094250Free PMC Article
Arts FA, Velghe AI, Stevens M, Renauld JC, Essaghir A, Demoulin JB
J Cell Mol Med 2015 Jan;19(1):239-48. Epub 2014 Oct 8 doi: 10.1111/jcmm.12443. PMID: 25292412Free PMC Article

Therapy

Pacheco D, Travassos AR, Antunes J, Marques MS, Filipe P, Silva R
Dermatol Online J 2013 Jun 15;19(6):18569. PMID: 24011318
Abubakar SA, Saidu S
Ann Afr Med 2012 Oct-Dec;11(4):234-7. doi: 10.4103/1596-3519.102855. PMID: 23103923
Mathur SK, Saini M, Bhardwaj AK
BMJ Case Rep 2012 Mar 20;2012 doi: 10.1136/bcr.08.2011.4668. PMID: 22605695Free PMC Article
Lemos RR, Oliveira DF, Zatz M, Oliveira JR
J Mol Neurosci 2011 Mar;43(3):333-6. Epub 2010 Sep 14 doi: 10.1007/s12031-010-9445-7. PMID: 20838928

Prognosis

Alam ST, Aswani Y, Anandpara KM, Hira P
BMJ Case Rep 2015 Mar 20;2015 doi: 10.1136/bcr-2014-208812. PMID: 25795750Free PMC Article
Brighina L, Saracchi E, Ferri F, Gagliardi M, Tarantino P, Morzenti S, Musarra M, Patassini M, Annesi G, Ferrarese C
Neurodegener Dis 2014;14(3):133-8. Epub 2014 Sep 25 doi: 10.1159/000365216. PMID: 25348593
Yamada M, Tanaka M, Takagi M, Kobayashi S, Taguchi Y, Takashima S, Tanaka K, Touge T, Hatsuta H, Murayama S, Hayashi Y, Kaneko M, Ishiura H, Mitsui J, Atsuta N, Sobue G, Shimozawa N, Inuzuka T, Tsuji S, Hozumi I
Neurology 2014 Feb 25;82(8):705-12. Epub 2014 Jan 24 doi: 10.1212/WNL.0000000000000143. PMID: 24463626
Nicolas G, Pottier C, Charbonnier C, Guyant-Maréchal L, Le Ber I, Pariente J, Labauge P, Ayrignac X, Defebvre L, Maltête D, Martinaud O, Lefaucheur R, Guillin O, Wallon D, Chaumette B, Rondepierre P, Derache N, Fromager G, Schaeffer S, Krystkowiak P, Verny C, Jurici S, Sauvée M, Vérin M, Lebouvier T, Rouaud O, Thauvin-Robinet C, Rousseau S, Rovelet-Lecrux A, Frebourg T, Campion D, Hannequin D; French IBGC Study Group.
Brain 2013 Nov;136(Pt 11):3395-407. Epub 2013 Sep 24 doi: 10.1093/brain/awt255. PMID: 24065723
Hsu SC, Sears RL, Lemos RR, Quintáns B, Huang A, Spiteri E, Nevarez L, Mamah C, Zatz M, Pierce KD, Fullerton JM, Adair JC, Berner JE, Bower M, Brodaty H, Carmona O, Dobricić V, Fogel BL, García-Estevez D, Goldman J, Goudreau JL, Hopfer S, Janković M, Jaumà S, Jen JC, Kirdlarp S, Klepper J, Kostić V, Lang AE, Linglart A, Maisenbacher MK, Manyam BV, Mazzoni P, Miedzybrodzka Z, Mitarnun W, Mitchell PB, Mueller J, Novaković I, Paucar M, Paulson H, Simpson SA, Svenningsson P, Tuite P, Vitek J, Wetchaphanphesat S, Williams C, Yang M, Schofield PR, de Oliveira JR, Sobrido MJ, Geschwind DH, Coppola G
Neurogenetics 2013 Feb;14(1):11-22. Epub 2013 Jan 20 doi: 10.1007/s10048-012-0349-2. PMID: 23334463Free PMC Article

Clinical prediction guides

Savino E, Soavi C, Capatti E, Borrelli M, Vigna GB, Passaro A, Zuliani G
BMC Neurol 2016 Sep 8;16:165. doi: 10.1186/s12883-016-0693-1. PMID: 27608765Free PMC Article
Kimura T, Miura T, Aoki K, Saito S, Hondo H, Konno T, Uchiyama A, Ikeuchi T, Takahashi H, Kakita A
Neuropathology 2016 Aug;36(4):365-71. Epub 2015 Dec 4 doi: 10.1111/neup.12280. PMID: 26635128
Brighina L, Saracchi E, Ferri F, Gagliardi M, Tarantino P, Morzenti S, Musarra M, Patassini M, Annesi G, Ferrarese C
Neurodegener Dis 2014;14(3):133-8. Epub 2014 Sep 25 doi: 10.1159/000365216. PMID: 25348593
Betsholtz C, Keller A
Brain Pathol 2014 Jul;24(4):387-95. doi: 10.1111/bpa.12158. PMID: 24946076
Nicolas G, Pottier C, Charbonnier C, Guyant-Maréchal L, Le Ber I, Pariente J, Labauge P, Ayrignac X, Defebvre L, Maltête D, Martinaud O, Lefaucheur R, Guillin O, Wallon D, Chaumette B, Rondepierre P, Derache N, Fromager G, Schaeffer S, Krystkowiak P, Verny C, Jurici S, Sauvée M, Vérin M, Lebouvier T, Rouaud O, Thauvin-Robinet C, Rousseau S, Rovelet-Lecrux A, Frebourg T, Campion D, Hannequin D; French IBGC Study Group.
Brain 2013 Nov;136(Pt 11):3395-407. Epub 2013 Sep 24 doi: 10.1093/brain/awt255. PMID: 24065723

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