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Symmetric lesions of the basal ganglia

MedGen UID:
870500
Concept ID:
C4024947
Disease or Syndrome
HPO: HP:0007039

Term Hierarchy

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

Conditions with this feature

Autosomal dominant striatal neurodegeneration type 1
MedGen UID:
934775
Concept ID:
C4310808
Disease or Syndrome
Autosomal dominant striatal degeneration is a neurologic disorder characterized by variable movement abnormalities due to dysfunction in the striatal part of the basal ganglia (summary by Kuhlenbaumer et al., 2004). Genetic Heterogeneity of Autosomal Dominant Striatal Degeneration See also ADSD2 (616922), caused by mutation in the PDE10A gene (610652) on chromosome 6q27.

Professional guidelines

PubMed

Ribas GA, de Mori LH, Freddi TAL, Oliveira LDS, de Souza SR, Corrêa DG
Neuroradiol J 2024 Dec;37(6):705-722. Epub 2024 May 4 doi: 10.1177/19714009241252625. PMID: 38703015Free PMC Article
Gerards M, Sallevelt SC, Smeets HJ
Mol Genet Metab 2016 Mar;117(3):300-12. Epub 2015 Dec 19 doi: 10.1016/j.ymgme.2015.12.004. PMID: 26725255
Baertling F, Rodenburg RJ, Schaper J, Smeitink JA, Koopman WJ, Mayatepek E, Morava E, Distelmaier F
J Neurol Neurosurg Psychiatry 2014 Mar;85(3):257-65. Epub 2013 Jun 14 doi: 10.1136/jnnp-2012-304426. PMID: 23772060

Recent clinical studies

Etiology

Ma XF, Fan LY, Jin P, Lin K, Tong GA, Wang GQ
Sci Rep 2024 Sep 27;14(1):22266. doi: 10.1038/s41598-024-73475-9. PMID: 39333756Free PMC Article
Bai L, Di W, Xu Z, Liu B, Lin N, Fan S, Ren H, Lu Q, Wang J, Guan H; Encephalitis Collaborative Group
Neurol Sci 2024 Jul;45(7):3411-3419. Epub 2024 Feb 12 doi: 10.1007/s10072-024-07363-5. PMID: 38342839
Kassem H, Wafaie A, Alsuhibani S, Farid T
AJNR Am J Neuroradiol 2014 Oct;35(10):1990-5. Epub 2014 May 8 doi: 10.3174/ajnr.A3966. PMID: 24812013Free PMC Article
Antonini A, Vitale C, Barone P, Cilia R, Righini A, Bonuccelli U, Abbruzzese G, Ramat S, Petrone A, Quatrale R, Marconi R, Ceravolo R, Stefani A, Lopiano L, Zappia M, Capus L, Morgante L, Tamma F, Tinazzi M, Colosimo C, Guerra UP
Parkinsonism Relat Disord 2012 Jul;18(6):775-80. Epub 2012 Apr 22 doi: 10.1016/j.parkreldis.2012.03.017. PMID: 22531611
RamachandranNair R, Ochi A, Akiyama T, Buckley DJ, Soman TB, Weiss SK, Otsubo H
Epileptic Disord 2005 Dec;7(4):378-82. PMID: 16338683

Diagnosis

Rahman S
Handb Clin Neurol 2023;194:43-63. doi: 10.1016/B978-0-12-821751-1.00015-4. PMID: 36813320
Van Cauter S, Severino M, Ammendola R, Van Berkel B, Vavro H, van den Hauwe L, Rumboldt Z
Neuroradiology 2020 Dec;62(12):1565-1605. Epub 2020 Aug 5 doi: 10.1007/s00234-020-02511-y. PMID: 32761278Free PMC Article
Mascalchi M, Montomoli M, Guerrini R
Essays Biochem 2018 Jul 20;62(3):409-421. doi: 10.1042/EBC20170109. PMID: 30030366
Panda AK, Bala K, Bhirud L
BMJ Case Rep 2014 Jan 7;2014 doi: 10.1136/bcr-2013-009752. PMID: 24398867Free PMC Article
Baertling F, Rodenburg RJ, Schaper J, Smeitink JA, Koopman WJ, Mayatepek E, Morava E, Distelmaier F
J Neurol Neurosurg Psychiatry 2014 Mar;85(3):257-65. Epub 2013 Jun 14 doi: 10.1136/jnnp-2012-304426. PMID: 23772060

Therapy

Walker MA, Miranda M, Allred A, Mootha VK
Curr Opin Neurobiol 2022 Feb;72:80-90. Epub 2021 Oct 14 doi: 10.1016/j.conb.2021.09.006. PMID: 34656053Free PMC Article
Kassem H, Wafaie A, Alsuhibani S, Farid T
AJNR Am J Neuroradiol 2014 Oct;35(10):1990-5. Epub 2014 May 8 doi: 10.3174/ajnr.A3966. PMID: 24812013Free PMC Article
Finelli PF, Singh JU
Am J Kidney Dis 2014 Feb;63(2):286-8. Epub 2013 Oct 30 doi: 10.1053/j.ajkd.2013.08.030. PMID: 24183109
Alquist CR, McGoey R, Bastian F, Newman W 3rd
J La State Med Soc 2012 May-Jun;164(3):145-6. PMID: 22866355
Antonini A, Vitale C, Barone P, Cilia R, Righini A, Bonuccelli U, Abbruzzese G, Ramat S, Petrone A, Quatrale R, Marconi R, Ceravolo R, Stefani A, Lopiano L, Zappia M, Capus L, Morgante L, Tamma F, Tinazzi M, Colosimo C, Guerra UP
Parkinsonism Relat Disord 2012 Jul;18(6):775-80. Epub 2012 Apr 22 doi: 10.1016/j.parkreldis.2012.03.017. PMID: 22531611

Prognosis

Gerards M, Sallevelt SC, Smeets HJ
Mol Genet Metab 2016 Mar;117(3):300-12. Epub 2015 Dec 19 doi: 10.1016/j.ymgme.2015.12.004. PMID: 26725255
Baertling F, Rodenburg RJ, Schaper J, Smeitink JA, Koopman WJ, Mayatepek E, Morava E, Distelmaier F
J Neurol Neurosurg Psychiatry 2014 Mar;85(3):257-65. Epub 2013 Jun 14 doi: 10.1136/jnnp-2012-304426. PMID: 23772060
Alquist CR, McGoey R, Bastian F, Newman W 3rd
J La State Med Soc 2012 May-Jun;164(3):145-6. PMID: 22866355
McKelvie P, Infeld B, Marotta R, Chin J, Thorburn D, Collins S
J Clin Neurosci 2012 Feb;19(2):195-202. doi: 10.1016/j.jocn.2011.09.009. PMID: 22273117
Vigliani MC, Honnorat J, Antoine JC, Vitaliani R, Giometto B, Psimaras D, Franchino F, Rossi C, Graus F; PNS EuroNetwork
J Neurol 2011 Nov;258(11):2058-68. Epub 2011 May 11 doi: 10.1007/s00415-011-6074-1. PMID: 21559939

Clinical prediction guides

Walker MA, Miranda M, Allred A, Mootha VK
Curr Opin Neurobiol 2022 Feb;72:80-90. Epub 2021 Oct 14 doi: 10.1016/j.conb.2021.09.006. PMID: 34656053Free PMC Article
Bonfante E, Koenig MK, Adejumo RB, Perinjelil V, Riascos RF
Pediatr Radiol 2016 Apr;46(4):443-51. Epub 2016 Jan 6 doi: 10.1007/s00247-015-3523-5. PMID: 26739140
Baertling F, Rodenburg RJ, Schaper J, Smeitink JA, Koopman WJ, Mayatepek E, Morava E, Distelmaier F
J Neurol Neurosurg Psychiatry 2014 Mar;85(3):257-65. Epub 2013 Jun 14 doi: 10.1136/jnnp-2012-304426. PMID: 23772060
Vigliani MC, Honnorat J, Antoine JC, Vitaliani R, Giometto B, Psimaras D, Franchino F, Rossi C, Graus F; PNS EuroNetwork
J Neurol 2011 Nov;258(11):2058-68. Epub 2011 May 11 doi: 10.1007/s00415-011-6074-1. PMID: 21559939
Wada R, Kucharczyk W
Neuroimaging Clin N Am 2008 Feb;18(1):183-91; ix. doi: 10.1016/j.nic.2007.12.005. PMID: 18319162

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