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Cavitation of the basal ganglia

MedGen UID:
870505
Concept ID:
C4024952
Disease or Syndrome
HPO: HP:0007007

Definition

The formation of small cavities in the tissue of the basal ganglia. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCavitation of the basal ganglia

Conditions with this feature

Neuroferritinopathy
MedGen UID:
381211
Concept ID:
C1853578
Disease or Syndrome
Neuroferritinopathy is an adult-onset progressive movement disorder characterized by chorea or dystonia and speech and swallowing deficits. The movement disorder typically affects one or two limbs and progresses to become more generalized within 20 years of disease onset. When present, asymmetry in the movement abnormalities remains throughout the course of the disorder. Most individuals develop a characteristic orofacial action-specific dystonia related to speech that leads to dysarthrophonia. Frontalis overactivity and orolingual dyskinesia are common. Cognitive deficits and behavioral issues become major problems with time.

Professional guidelines

PubMed

Petruk KC, Wilson AF, Schindel DR, Witt NJ, McLean DR, McFarland PA, Johnston RG, McPhee MS, Martin WR, Calne DB
Prog Brain Res 1990;82:671-6. doi: 10.1016/s0079-6123(08)62658-8. PMID: 2127120

Recent clinical studies

Etiology

Wang SS, Wei S, Song B, Xu YM
Chin Med J (Engl) 2020 Oct 5;133(19):2302-2307. doi: 10.1097/CM9.0000000000001041. PMID: 32881721Free PMC Article
Baide-Mairena H, Gaudó P, Marti-Sánchez L, Emperador S, Sánchez-Montanez A, Alonso-Luengo O, Correa M, Grau AM, Ortigoza-Escobar JD, Artuch R, Vázquez E, Del Toro M, Garrido-Pérez N, Ruiz-Pesini E, Montoya J, Bayona-Bafaluy MP, Pérez-Dueñas B
Mol Genet Metab 2019 Mar;126(3):250-258. Epub 2019 Jan 5 doi: 10.1016/j.ymgme.2019.01.001. PMID: 30642748
Ghaznawi R, de Bresser J, van der Graaf Y, Zwartbol MH, Witkamp TD, Geerlings MI, Hendrikse J; SMART Study Group *
J Cereb Blood Flow Metab 2018 Sep;38(9):1609-1617. Epub 2017 Apr 24 doi: 10.1177/0271678X17705974. PMID: 28436255Free PMC Article
Tonduti D, Chiapparini L, Moroni I, Ardissone A, Zorzi G, Zibordi F, Raspante S, Panteghini C, Garavaglia B, Nardocci N
Curr Neurol Neurosci Rep 2016 Jun;16(6):54. doi: 10.1007/s11910-016-0656-3. PMID: 27074771
Ramenghi LA, Ricci D, Mercuri E, Groppo M, De Carli A, Ometto A, Fumagalli M, Bassi L, Pisoni S, Cioni G, Mosca F
Early Hum Dev 2010 Jul;86 Suppl 1:73-5. Epub 2010 Feb 13 doi: 10.1016/j.earlhumdev.2010.01.010. PMID: 20153942

Diagnosis

Marti-Sanchez L, Baide-Mairena H, Marcé-Grau A, Pons R, Skouma A, López-Laso E, Sigatullina M, Rizzo C, Semeraro M, Martinelli D, Carrozzo R, Dionisi-Vici C, González-Gutiérrez-Solana L, Correa-Vela M, Ortigoza-Escobar JD, Sánchez-Montañez Á, Vazquez É, Delgado I, Aguilera-Albesa S, Yoldi ME, Ribes A, Tort F, Pollini L, Galosi S, Leuzzi V, Tolve M, Pérez-Gay L, Aldamiz-Echevarría L, Del Toro M, Arranz A, Roelens F, Urreizti R, Artuch R, Macaya A, Pérez-Dueñas B
J Inherit Metab Dis 2021 Mar;44(2):401-414. Epub 2020 Aug 16 doi: 10.1002/jimd.12288. PMID: 32677093
Ferguson KJ, Cvoro V, MacLullich AMJ, Shenkin SD, Sandercock PAG, Sakka E, Wardlaw JM
J Stroke Cerebrovasc Dis 2018 Jul;27(7):1815-1821. Epub 2018 Mar 23 doi: 10.1016/j.jstrokecerebrovasdis.2018.02.028. PMID: 29576397Free PMC Article
Tonduti D, Chiapparini L, Moroni I, Ardissone A, Zorzi G, Zibordi F, Raspante S, Panteghini C, Garavaglia B, Nardocci N
Curr Neurol Neurosci Rep 2016 Jun;16(6):54. doi: 10.1007/s11910-016-0656-3. PMID: 27074771
Keogh MJ, Aribisala BS, He J, Tulip E, Butteriss D, Morris C, Gorman G, Horvath R, Chinnery PF, Blamire AM
J Neurol 2015 Oct;262(10):2232-40. Epub 2015 Jul 4 doi: 10.1007/s00415-015-7832-2. PMID: 26142024Free PMC Article
Walker RH, Purohit DP, Good PF, Perl DP, Brin MF
Mov Disord 2002 May;17(3):576-84. doi: 10.1002/mds.10098. PMID: 12112210

Therapy

Ferguson KJ, Cvoro V, MacLullich AMJ, Shenkin SD, Sandercock PAG, Sakka E, Wardlaw JM
J Stroke Cerebrovasc Dis 2018 Jul;27(7):1815-1821. Epub 2018 Mar 23 doi: 10.1016/j.jstrokecerebrovasdis.2018.02.028. PMID: 29576397Free PMC Article
Loos CM, Staals J, Wardlaw JM, van Oostenbrugge RJ
Stroke 2012 Aug;43(8):2245-7. Epub 2012 Jun 12 doi: 10.1161/STROKEAHA.112.660076. PMID: 22693127
Seijo-Martínez M, Navarro C, Castro del Río M, Vila O, Puig M, Ribes A, Butron M
Arch Neurol 2005 Apr;62(4):666-70. doi: 10.1001/archneur.62.4.666. PMID: 15824270
Petruk KC, Wilson AF, Schindel DR, Witt NJ, McLean DR, McFarland PA, Johnston RG, McPhee MS, Martin WR, Calne DB
Prog Brain Res 1990;82:671-6. doi: 10.1016/s0079-6123(08)62658-8. PMID: 2127120

Prognosis

Marti-Sanchez L, Baide-Mairena H, Marcé-Grau A, Pons R, Skouma A, López-Laso E, Sigatullina M, Rizzo C, Semeraro M, Martinelli D, Carrozzo R, Dionisi-Vici C, González-Gutiérrez-Solana L, Correa-Vela M, Ortigoza-Escobar JD, Sánchez-Montañez Á, Vazquez É, Delgado I, Aguilera-Albesa S, Yoldi ME, Ribes A, Tort F, Pollini L, Galosi S, Leuzzi V, Tolve M, Pérez-Gay L, Aldamiz-Echevarría L, Del Toro M, Arranz A, Roelens F, Urreizti R, Artuch R, Macaya A, Pérez-Dueñas B
J Inherit Metab Dis 2021 Mar;44(2):401-414. Epub 2020 Aug 16 doi: 10.1002/jimd.12288. PMID: 32677093
Wang SS, Wei S, Song B, Xu YM
Chin Med J (Engl) 2020 Oct 5;133(19):2302-2307. doi: 10.1097/CM9.0000000000001041. PMID: 32881721Free PMC Article
Walker RH, Purohit DP, Good PF, Perl DP, Brin MF
Mov Disord 2002 May;17(3):576-84. doi: 10.1002/mds.10098. PMID: 12112210
Howells DW, Liberatore GT, Wong JY, Donnan GA
J Neurol Sci 1996 Jul;139(1):125-30. PMID: 8836983
Dooling EC, Richardson EP Jr
Arch Neurol 1976 Mar;33(3):196-9. doi: 10.1001/archneur.1976.00500030052011. PMID: 1252163

Clinical prediction guides

Marti-Sanchez L, Baide-Mairena H, Marcé-Grau A, Pons R, Skouma A, López-Laso E, Sigatullina M, Rizzo C, Semeraro M, Martinelli D, Carrozzo R, Dionisi-Vici C, González-Gutiérrez-Solana L, Correa-Vela M, Ortigoza-Escobar JD, Sánchez-Montañez Á, Vazquez É, Delgado I, Aguilera-Albesa S, Yoldi ME, Ribes A, Tort F, Pollini L, Galosi S, Leuzzi V, Tolve M, Pérez-Gay L, Aldamiz-Echevarría L, Del Toro M, Arranz A, Roelens F, Urreizti R, Artuch R, Macaya A, Pérez-Dueñas B
J Inherit Metab Dis 2021 Mar;44(2):401-414. Epub 2020 Aug 16 doi: 10.1002/jimd.12288. PMID: 32677093
Wang SS, Wei S, Song B, Xu YM
Chin Med J (Engl) 2020 Oct 5;133(19):2302-2307. doi: 10.1097/CM9.0000000000001041. PMID: 32881721Free PMC Article
Ferguson KJ, Cvoro V, MacLullich AMJ, Shenkin SD, Sandercock PAG, Sakka E, Wardlaw JM
J Stroke Cerebrovasc Dis 2018 Jul;27(7):1815-1821. Epub 2018 Mar 23 doi: 10.1016/j.jstrokecerebrovasdis.2018.02.028. PMID: 29576397Free PMC Article
Tonduti D, Chiapparini L, Moroni I, Ardissone A, Zorzi G, Zibordi F, Raspante S, Panteghini C, Garavaglia B, Nardocci N
Curr Neurol Neurosci Rep 2016 Jun;16(6):54. doi: 10.1007/s11910-016-0656-3. PMID: 27074771
Dooling EC, Richardson EP Jr
Arch Neurol 1976 Mar;33(3):196-9. doi: 10.1001/archneur.1976.00500030052011. PMID: 1252163

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