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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.
See: Condition Record
Autosomal dominant striatal neurodegeneration type 1

Professional guidelines

PubMed

Primary central nervous system lymphoma: Imaging features and differential diagnosis.
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
Leigh syndrome: Resolving the clinical and genetic heterogeneity paves the way for treatment options.
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
A guide to diagnosis and treatment of Leigh syndrome.
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

Clinical and neuroimaging features in neurological Wilson's disease with claustrum lesions.
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
The role of CT brain findings in the early diagnosis of infantile encephalitic beriberi.
Wani NA, Malik I, Tariq S, Bhat AS, Qureshi UA
Neuroradiology 2024 Jun;66(6):1043-1047. Epub 2024 Apr 1 doi: 10.1007/s00234-024-03346-7. PMID: 38558180
Febrile infection-related epilepsy syndrome with claustrum lesion: an underdiagnosed inflammatory encephalopathy.
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
Autoimmune glial fibrillary acidic protein astrocytopathy in children: a retrospective study.
Zhuang X, Jin K, Li X, Li J
Eur J Med Res 2022 Jan 22;27(1):11. doi: 10.1186/s40001-022-00641-y. PMID: 35065659Free PMC Article
Biotin-responsive basal ganglia disease: neuroimaging features before and after treatment.
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

Diagnosis

Leigh syndrome.
Rahman S
Handb Clin Neurol 2023;194:43-63. doi: 10.1016/B978-0-12-821751-1.00015-4. PMID: 36813320
Neuroimaging in mitochondrial disease.
Distelmaier F, Klopstock T
Handb Clin Neurol 2023;194:173-185. doi: 10.1016/B978-0-12-821751-1.00016-6. PMID: 36813312
Neuroimaging in mitochondrial disorders.
Mascalchi M, Montomoli M, Guerrini R
Essays Biochem 2018 Jul 20;62(3):409-421. doi: 10.1042/EBC20170109. PMID: 30030366
Extrapyramidal syndrome.
Panda AK, Bala K, Bhirud L
BMJ Case Rep 2014 Jan 7;2014 doi: 10.1136/bcr-2013-009752. PMID: 24398867Free PMC Article
A guide to diagnosis and treatment of Leigh syndrome.
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

On the dynamic and even reversible nature of Leigh syndrome: Lessons from human imaging and mouse models.
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
Acute metronidazole-induced neurotoxicity: an update on MRI findings.
Patel L, Batchala P, Almardawi R, Morales R, Raghavan P
Clin Radiol 2020 Mar;75(3):202-208. Epub 2019 Dec 16 doi: 10.1016/j.crad.2019.11.002. PMID: 31858989
Biotin-responsive basal ganglia disease: neuroimaging features before and after treatment.
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
A syndrome of bilateral symmetrical basal ganglia lesions in diabetic dialysis patients.
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
Biotin-responsive basal ganglia disease revisited: clinical, radiologic, and genetic findings.
Tabarki B, Al-Shafi S, Al-Shahwan S, Azmat Z, Al-Hashem A, Al-Adwani N, Biary N, Al-Zawahmah M, Khan S, Zuccoli G
Neurology 2013 Jan 15;80(3):261-7. Epub 2012 Dec 26 doi: 10.1212/WNL.0b013e31827deb4c. PMID: 23269594

Prognosis

Febrile infection-related epilepsy syndrome with claustrum lesion: an underdiagnosed inflammatory encephalopathy.
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
Leigh syndrome: Resolving the clinical and genetic heterogeneity paves the way for treatment options.
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
A guide to diagnosis and treatment of Leigh syndrome.
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
Late-adult onset Leigh syndrome.
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
Chorea and related movement disorders of paraneoplastic origin: the PNS EuroNetwork experience.
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

One Side of the Story; Clues to Etiology in Patients with Asymmetric Chorea.
Cincotta M, Walker RH
Tremor Other Hyperkinet Mov (N Y) 2022;12:3. Epub 2022 Jan 31 doi: 10.5334/tohm.675. PMID: 35136702Free PMC Article
On the dynamic and even reversible nature of Leigh syndrome: Lessons from human imaging and mouse models.
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
The neuroimaging of Leigh syndrome: case series and review of the literature.
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
A guide to diagnosis and treatment of Leigh syndrome.
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
Chorea and related movement disorders of paraneoplastic origin: the PNS EuroNetwork experience.
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

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