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Cerebellar dentate nucleus calcification

MedGen UID:
395215
Concept ID:
C1859273
Finding
Synonym: Dense calcifications in the cerebellar dentate nucleus
 
HPO: HP:0002461

Definition

Pathological deposition of calcium salts in the dentate nucleus of the cerebellum. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCerebellar dentate nucleus calcification

Conditions with this feature

Idiopathic basal ganglia calcification 1
MedGen UID:
1637664
Concept ID:
C4551624
Disease or Syndrome
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 a gradually progressive movement disorder and neuropsychiatric symptoms. The movement disorder first manifests as clumsiness, fatigability, unsteady gait, slow or slurred speech, dysphagia, involuntary movements, or muscle cramping. 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. Seizures of various types occur frequently, some individuals experience chronic headache and vertigo; urinary urgency or incontinence may be present.
Basal ganglia calcification, idiopathic, 7, autosomal recessive
MedGen UID:
1683911
Concept ID:
C5193025
Disease or Syndrome
Autosomal recessive idiopathic basal ganglia calcification-7 is a neurologic disorder characterized by onset of symptoms in adulthood. Patients present with dysarthria, gait abnormalities, various movement abnormalities, and often cognitive decline. Brain imaging shows abnormal accumulation of calcium deposits in deep brain regions, including the basal ganglia, thalamus, dentate nuclei, cerebellum, and sometimes other areas of the brain and spinal cord. Some patients with brain imaging abnormalities may be clinically asymptomatic (summary by Yao et al., 2018). For a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (213600).

Professional guidelines

PubMed

Parwani AV, Stelow EB, Pambuccian SE, Burger PC, Ali SZ
Cancer 2005 Apr 25;105(2):65-70. doi: 10.1002/cncr.20872. PMID: 15690353
Lee YY, Glass JP, van Eys J, Wallace S
Radiology 1985 Mar;154(3):677-82. doi: 10.1148/radiology.154.3.3969470. PMID: 3969470

Recent clinical studies

Etiology

Kühn I, Maschke H, Großmann A, Hauenstein K, Weber MA, Zettl UK, Storch A, Walter U
Neurol Sci 2022 Apr;43(4):2631-2639. Epub 2021 Nov 4 doi: 10.1007/s10072-021-05702-4. PMID: 34735650Free PMC Article
Pistacchi M, Gioulis M, Sanson F, Marsala SM
Folia Neuropathol 2016;54(3):282-294. doi: 10.5114/fn.2016.62538. PMID: 27764521
Goswami R, Sharma R, Sreenivas V, Gupta N, Ganapathy A, Das S
Clin Endocrinol (Oxf) 2012 Aug;77(2):200-6. doi: 10.1111/j.1365-2265.2012.04353.x. PMID: 22288727
Manto MU
Cerebellum 2005;4(1):2-6. doi: 10.1080/14734220510007914. PMID: 15895552
Steinlin M, Blaser S, Boltshauser E
Neuroradiology 1998 Jun;40(6):347-54. doi: 10.1007/s002340050597. PMID: 9689620

Diagnosis

Zhao C, Lin Y, Jiang Z
Clin Lab 2023 Oct 1;69(10) doi: 10.7754/Clin.Lab.2023.230505. PMID: 37844054
Sipra ZS, Din IU, Awais MA, Tariq TA
J Pak Med Assoc 2022 Feb;72(2):383. doi: 10.47391/JPMA.22-40. PMID: 35320202
Mandal AKJ, Patel NB, Missouris CG
Am J Med Sci 2020 Oct;360(4):406-409. Epub 2020 May 21 doi: 10.1016/j.amjms.2020.05.023. PMID: 32593413
Saleem S, Aslam HM, Anwar M, Anwar S, Saleem M, Saleem A, Rehmani MA
Orphanet J Rare Dis 2013 Oct 8;8:156. doi: 10.1186/1750-1172-8-156. PMID: 24098952Free PMC Article
Steinlin M, Blaser S, Boltshauser E
Neuroradiology 1998 Jun;40(6):347-54. doi: 10.1007/s002340050597. PMID: 9689620

Therapy

Zhao C, Lin Y, Jiang Z
Clin Lab 2023 Oct 1;69(10) doi: 10.7754/Clin.Lab.2023.230505. PMID: 37844054
Mandal AKJ, Patel NB, Missouris CG
Am J Med Sci 2020 Oct;360(4):406-409. Epub 2020 May 21 doi: 10.1016/j.amjms.2020.05.023. PMID: 32593413
Dos Santos VM, Da Mata AM, Ribeiro KR, Calvo IC
Rom J Intern Med 2016 Jan-Mar;54(1):63-5. doi: 10.1515/rjim-2016-0007. PMID: 27141572
Barbieri S, Schroeder C, Froehlich JM, Pasch A, Thoeny HC
Contrast Media Mol Imaging 2016 May;11(3):245-50. Epub 2016 Jan 11 doi: 10.1002/cmmi.1683. PMID: 26929131Free PMC Article
Abe S, Tojo K, Ichida K, Shigematsu T, Hasegawa T, Morita M, Sakai O
Intern Med 1996 Feb;35(2):129-34. doi: 10.2169/internalmedicine.35.129. PMID: 8680101

Prognosis

Sakai K, Ishida C, Hayashi K, Tsuji N, Kannon T, Hosomichi K, Takei N, Kakita A, Tajima A, Yamada M
Neuropathology 2022 Apr;42(2):126-133. Epub 2022 Jan 13 doi: 10.1111/neup.12781. PMID: 35026865
Grangeon L, Wallon D, Charbonnier C, Quenez O, Richard AC, Rousseau S, Budowski C, Lebouvier T, Corbille AG, Vidailhet M, Méneret A, Roze E, Anheim M, Tranchant C, Favrole P, Antoine JC, Defebvre L, Ayrignac X, Labauge P, Pariente J, Clanet M, Maltête D, Rovelet-Lecrux A, Boland A, Deleuze JF; French PFBC study group, Frebourg T, Hannequin D, Campion D, Nicolas G
Brain 2019 Jun 1;142(6):1573-1586. doi: 10.1093/brain/awz095. PMID: 31009047
Pistacchi M, Gioulis M, Sanson F, Marsala SM
Folia Neuropathol 2016;54(3):282-294. doi: 10.5114/fn.2016.62538. PMID: 27764521
Yamada M, Asano T, Okamoto K, Hayashi Y, Kanematsu M, Hoshi H, Akaiwa Y, Shimohata T, Nishizawa M, Inuzuka T, Hozumi I
Geriatr Gerontol Int 2013 Jul;13(3):706-10. Epub 2012 Dec 21 doi: 10.1111/ggi.12004. PMID: 23279700
Manto MU
Cerebellum 2005;4(1):2-6. doi: 10.1080/14734220510007914. PMID: 15895552

Clinical prediction guides

Kühn I, Maschke H, Großmann A, Hauenstein K, Weber MA, Zettl UK, Storch A, Walter U
Neurol Sci 2022 Apr;43(4):2631-2639. Epub 2021 Nov 4 doi: 10.1007/s10072-021-05702-4. PMID: 34735650Free PMC Article
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
Brain 2020 Feb 1;143(2):491-502. doi: 10.1093/brain/awz392. PMID: 31851307
Grangeon L, Wallon D, Charbonnier C, Quenez O, Richard AC, Rousseau S, Budowski C, Lebouvier T, Corbille AG, Vidailhet M, Méneret A, Roze E, Anheim M, Tranchant C, Favrole P, Antoine JC, Defebvre L, Ayrignac X, Labauge P, Pariente J, Clanet M, Maltête D, Rovelet-Lecrux A, Boland A, Deleuze JF; French PFBC study group, Frebourg T, Hannequin D, Campion D, Nicolas G
Brain 2019 Jun 1;142(6):1573-1586. doi: 10.1093/brain/awz095. PMID: 31009047
Manto MU
Cerebellum 2005;4(1):2-6. doi: 10.1080/14734220510007914. PMID: 15895552
Knight MA, Gardner RJ, Bahlo M, Matsuura T, Dixon JA, Forrest SM, Storey E
Brain 2004 May;127(Pt 5):1172-81. Epub 2004 Mar 3 doi: 10.1093/brain/awh139. PMID: 14998916

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