Primary familial brain calcification
Senast uppdaterad 18 aug 2020
Uppfyller patientens redaktionella riktlinjer
- Ladda nerLadda ner
- Dela
- Language
- Diskussion
- Ljudversion
- Lägg till i föredragna källor på Google
Primary familial brain calcification is a condition characterised by abnormal deposits of calcium (calcification) in blood vessels within the brain. These calcium deposits are visible only on medical imaging and typically occur in the basal ganglia, which are structures deep within the brain that help start and control movement of the body. Other brain regions may also be affected.
Beskrivning
Primary familial brain calcification is a condition characterised by abnormal deposits of calcium (calcification) in blood vessels within the brain. These calcium deposits are visible only on medical imaging and typically occur in the basal ganglia, which are structures deep within the brain that help start and control movement of the body. Other brain regions may also be affected.
The main signs and symptoms of primary familial brain calcification are movement disorders and psychiatric or behavioural problems. These difficulties usually begin in mid-adulthood, and worsen over time. Most affected individuals have a group of movement abnormalities called parkinsonism, which include unusually slow movement (bradykinesia), muscle rigidity, and tremors. Other movement problems common in people with primary familial brain calcification include involuntary tensing of various muscles (dystonia), uncontrollable movements of the limbs (choreoathetosis), and an unsteady walking style (gait).
Psychiatric and behavioural problems occur in 20 to 30 percent of people with primary familial brain calcification. These problems can include difficulty concentrating, memory loss, changes in personality, a distorted view of reality (psychosis), and decline in intellectual function (dementia). Affected individuals may also have difficulty swallowing (dysphagia), impaired speech, headache, episodes of extreme dizziness (vertigo), seizures, or urinary problems.
The severity of primary familial brain calcification varies among affected individuals; some people have no symptoms related to the condition, whereas others have significant movement and psychiatric problems.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal recessive; Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
Bilateral striopallidodentate calcinosis
Cerebrovascular ferrocalcinosis
Familial idiopathic basal ganglia calcification
FIBGC
Striopallidodentate calcinosis
Related patient information and medicines
Patient information leaflet
Hyperparatyreoidism
Primary hyperparathyroidism seems to be more common in women than in men and most commonly affects women after t... Primary hyperparathyroidism does not usually run in families. However, in a very small number of people, it can be the result of an inherited condition called familial isolated hyperparathyroidism. Also, rarely, it may be inherited.
Patient information leaflet
Parkinsons sjukdom
What is Parkinson's disease. Parkinsons sjukdom is a progressive neurological degeneration of certain cells (called dopaminergic cells) within a specific part of the brain (substantia nigra). The deficiency of dopamine leads to a movement disorder with Parkinson's disease symptoms. Parkinson's disease symptoms The brain cells and nerves affected.
Patient information leaflet
Huntingtons sjukdom
Huntingtons sjukdom is a genetically inherited condition that causes parts of the brain och nervous system to stop working properly over time. It is a slowly progressive condition that interferes with the movements of your body, thi... Huntingtons sjukdom is caused by a defective gene that you inherit from your parents. How Huntington's disease.
Patient information leaflet
Migrän
Family history Migraines are more common in people who have relatives who suffer from migraines. ... some people inherit a set of genes that make them more likely to develop migraines laterThere are also some very rare types of migrän that do have a clear genetic link, såsom familial hemiplegic migraine (see below). Hemiplegic migraine can.
Patient information leaflet
Essentiell tremor
Essential tremor is the term for having uncontrolled shaking movements in parts of your body - most commonly your arms and hands. What is essential tremor. Essential tremor is the term for having uncontrolled shaking movements in parts of your body - most commonly your arms and hands - with no other symptoms and no underlying cause. Essential.
Patient information leaflet
Cerebral pares
Cerebral pares is a problem with muscle function. It is caused by brain injury or abnormal development of the brain that occurs while a child's brain is still developing. This may be before the baby is born, during the birth or soon after birth. What is cerebral palsy. Cerebral pares is a name for a group of life-long conditions that have problems.
Vidare läsning och referenser
- Primary familial brain calcification; MedlinePlus, National Library of Medicine.
- Anheim M, Lopez-Sanchez U, Giovannini D, Richard AC, Touhami J, N'Guyen L, Rudolf G, Thibault-Stoll A, Frebourg T, Hannequin D, Campion D, Battini JL, Sitbon M, Nicolas G. XPR1 mutations are a rare cause of primary familial brain calcification. J Neurol. 2016 Aug;263(8):1559-64. doi: 10.1007/s00415-016-8166-4. Epub 2016 May 26.
- Arkadir D, Lossos A, Rahat D, Abu Snineh M, Schueler-Furman O, Nitschke S, Minassian BA, Sadaka Y, Lerer I, Tabach Y, Meiner V. MYORG is associated with recessive primary familial brain calcification. Ann Clin Transl Neurol. 2018 Nov 15;6(1):106-113. doi: 10.1002/acn3.684. eCollection 2019 Jan.
- Arts FA, Velghe AI, Stevens M, Renauld JC, Essaghir A, Demoulin JB. Idiopathic basal ganglia calcification-associated PDGFRB mutations impair the receptor signalling. J Cell Mol Med. 2015 Jan;19(1):239-48. doi: 10.1111/jcmm.12443. Epub 2014 Oct 8.
- Cen Z, Chen Y, Chen S, Wang H, Yang D, Zhang H, Wu H, Wang L, Tang S, Ye J, Shen J, Wang H, Fu F, Chen X, Xie F, Liu P, Xu X, Cao J, Cai P, Pan Q, Li J, Yang W, Shan PF, Li Y, Liu JY, Zhang B, Luo W. Biallelic loss-of-function mutations in JAM2 cause primary familial brain calcification. Brain. 2020 Feb 1;143(2):491-502. doi: 10.1093/brain/awz392.
- Chen S, Cen Z, Fu F, Chen Y, Chen X, Yang D, Wang H, Wu H, Zheng X, Xie F, Ouyang Z, Tang W, Zhang S, Yin L, Zhang Y, Meng P, Zhu X, Zhang H, Jiang F, Zhang K, He J, Zhang D, Ming H, Song D, Zhou Z, Luo Y, Gu Q, Su Y, Wu X, Tang H, Wu C, Chen W, Liu JY, Luo W; Chinese PFBC Study Group. Underestimated disease prevalence and severe phenotypes in patients with biallelic variants: A cohort study of primary familial brain calcification from China. Parkinsonism Relat Disord. 2019 Jul;64:211-219. doi: 10.1016/j.parkreldis.2019.04.009. Epub 2019 Apr 11.
- Chen Y, Fu F, Chen S, Cen Z, Tang H, Huang J, Xie F, Zheng X, Yang D, Wang H, Huang X, Zhang Y, Zhou Y, Liu JY, Luo W. Evaluation of MYORG mutations as a novel cause of primary familial brain calcification. Mov Disord. 2019 Feb;34(2):291-297. doi: 10.1002/mds.27582. Epub 2018 Dec 27.
- Grutz K, Volpato CB, Domingo A, Alvarez-Fischer D, Gebert U, Schifferle G, Buffone E, Wszolek ZK, Rademakers R, Ferbert A, Hicks AA, Klein C, Pramstaller PP, Westenberger A. Primary familial brain calcification in the 'IBGC2' kindred: All linkage roads lead to SLC20A2. Mov Disord. 2016 Dec;31(12):1901-1904. doi: 10.1002/mds.26768. Epub 2016 Sep 27.
- Hsu SC, Sears RL, Lemos RR, Quintans 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, Dobricic V, Fogel BL, Garcia-Estevez D, Goldman J, Goudreau JL, Hopfer S, Jankovic M, Jauma S, Jen JC, Kirdlarp S, Klepper J, Kostic V, Lang AE, Linglart A, Maisenbacher MK, Manyam BV, Mazzoni P, Miedzybrodzka Z, Mitarnun W, Mitchell PB, Mueller J, Novakovic 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. Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. Neurogenetics. 2013 Feb;14(1):11-22. doi: 10.1007/s10048-012-0349-2. Epub 2013 Jan 20.
- Nicolas G, Charbonnier C, Campion D, Veltman JA. Estimation of minimal disease prevalence from population genomic data: Application to primary familial brain calcification. Am J Med Genet B Neuropsychiatr Genet. 2018 Jan;177(1):68-74. doi: 10.1002/ajmg.b.32605. Epub 2017 Nov 20.
- Nicolas G, Charbonnier C, de Lemos RR, Richard AC, Guillin O, Wallon D, Legati A, Geschwind D, Coppola G, Frebourg T, Campion D, de Oliveira JR, Hannequin D; collaborators from the French IBGC study Group. Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers. Am J Med Genet B Neuropsychiatr Genet. 2015 Oct;168(7):586-94. doi: 10.1002/ajmg.b.32336. Epub 2015 Jun 30.
- Nicolas G, Pottier C, Maltete D, Coutant S, Rovelet-Lecrux A, Legallic S, Rousseau S, Vaschalde Y, Guyant-Marechal L, Augustin J, Martinaud O, Defebvre L, Krystkowiak P, Pariente J, Clanet M, Labauge P, Ayrignac X, Lefaucheur R, Le Ber I, Frebourg T, Hannequin D, Campion D. Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification. Neurology. 2013 Jan 8;80(2):181-7. doi: 10.1212/WNL.0b013e31827ccf34. Epub 2012 Dec 19.
- Ramos EM, Carecchio M, Lemos R, Ferreira J, Legati A, Sears RL, Hsu SC, Panteghini C, Magistrelli L, Salsano E, Esposito S, Taroni F, Richard AC, Tranchant C, Anheim M, Ayrignac X, Goizet C, Vidailhet M, Maltete D, Wallon D, Frebourg T, Pimentel L, Geschwind DH, Vanakker O, Galasko D, Fogel BL, Innes AM, Ross A, Dobyns WB, Alcantara D, O'Driscoll M, Hannequin D, Campion D; French PFBC study group; Oliveira JR, Garavaglia B, Coppola G, Nicolas G. Primary brain calcification: an international study reporting novel variants and associated phenotypes. Eur J Hum Genet. 2018 Oct;26(10):1462-1477. doi: 10.1038/s41431-018-0185-4. Epub 2018 Jun 28.
- Wang C, Li Y, Shi L, Ren J, Patti M, Wang T, de Oliveira JR, Sobrido MJ, Quintans B, Baquero M, Cui X, Zhang XY, Wang L, Xu H, Wang J, Yao J, Dai X, Liu J, Zhang L, Ma H, Gao Y, Ma X, Feng S, Liu M, Wang QK, Forster IC, Zhang X, Liu JY. Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. Nat Genet. 2012 Feb 12;44(3):254-6. doi: 10.1038/ng.1077.
- Yao XP, Cheng X, Wang C, Zhao M, Guo XX, Su HZ, Lai LL, Zou XH, Chen XJ, Zhao Y, Dong EL, Lu YQ, Wu S, Li X, Fan G, Yu H, Xu J, Wang N, Xiong ZQ, Chen WJ. Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification. Neuron. 2018 Jun 27;98(6):1116-1123.e5. doi: 10.1016/j.neuron.2018.05.037. Epub 2018 Jun 14.
Artikelhistorik
Artikeln finns också på Engelska, Tyska, Spanska, Franska, Italienska, Portugisiska, Hindi, Hebreiska, Arabiska, och Svenska.
18 aug 2020 | Senaste versionen
1 Mar 2019 | Ursprungligen publicerad
Delta i konversationen
Dela dina tankar eller erfarenheter med andra i vår patientgemenskaper.
Fråga, dela, anslut.
Bläddra i diskussioner, ställ frågor och dela erfarenheter inom hundratals hälsorelaterade ämnen.
Anmäl dig till Patientens nyhetsbrev
Din veckovisa dos av tydliga, pålitliga hälsoråd - skrivna för att hjälpa dig känna dig informerad, självsäker och i kontroll.
Genom att prenumerera accepterar du våra Sekretesspolicy. Du kan avsluta prenumerationen när som helst. Vi säljer aldrig dina uppgifter.