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Basal ganglia necrosis

MedGen UID:
868635
•Concept ID:
C4023035
•
Disease or Syndrome
HPO: HP:0012128

Definition

Death of cells in the basal ganglia. This finding can be confirmed by autopsy. It can be suspected with hyperintensities within the basal ganglia on FLAIR and T2-sequences on magnetic resonance imaging. [from HPO]

Conditions with this feature

Mitochondrial complex 1 deficiency, nuclear type 17
MedGen UID:
1648418
•Concept ID:
C4748786
•
Disease or Syndrome
See: Condition Record
Mitochondrial complex 1 deficiency, nuclear type 17

Professional guidelines

PubMed

Assessment of cheese sign and its association with vascular risk factors: Data from PUMCH dementia cohort.
Huang X, Hou B, Wang J, Li J, Shang L, Mao C, Dong L, Liu C, Feng F, Gao J, Peng B
Chin Med J (Engl) 2024 Apr 5;137(7):830-836. Epub 2023 Jul 7 doi: 10.1097/CM9.0000000000002785. PMID: 37415546Free PMC Article
The extrapyramidal syndromes of chronic kidney disease and dialysis (EPS-CKDD): diagnostic criteria, risk factors and prognosis.
Manickavasagar R, Chemmanam T, Youssef A, Agarwal A, Prentice DA, Irish AB
QJM 2022 Jun 7;115(6):359-366. doi: 10.1093/qjmed/hcab140. PMID: 34010386
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

Recent clinical studies

Etiology

Phenotypic Heterogeneity in Patients with Mutations in the Mitochondrial Complex I Assembly Gene NDUFAF5.
Chen PS, Lee NC, Sung CJ, Liu YW, Weng WC, Fan PC, Lee WT, Chien YH, Wu CS, Sung YF, Tsai MC, Lee YC, Hsueh HW, Fan SM, Wu MC, Li H, Chen HY, Lin HI, Ou-Yang CH, Hwuh WL, Lin CH
Mov Disord 2023 Dec;38(12):2217-2229. Epub 2023 Sep 27 doi: 10.1002/mds.29604. PMID: 37752895
Introduction and classical environmental risk factors for Parkinson.
Tranchant C
Rev Neurol (Paris) 2019 Dec;175(10):650-651. Epub 2019 Jun 18 doi: 10.1016/j.neurol.2019.04.006. PMID: 31227125
Globus Pallidus Necrosis Unrelated to Carbon Monoxide Poisoning: Retrospective Analysis of 27 Cases of Basal Ganglia Necrosis.
Yarid NA, Harruff RC
J Forensic Sci 2015 Nov;60(6):1484-7. Epub 2015 Aug 10 doi: 10.1111/1556-4029.12838. PMID: 26258901
Language comprehension in nonspeaking children with severe cerebral palsy: Neuroanatomical substrate?
Geytenbeek JJ, Oostrom KJ, Harlaar L, Becher JG, Knol DL, Barkhof F, Pinto PS, Vermeulen RJ
Eur J Paediatr Neurol 2015 Sep;19(5):510-20. Epub 2015 Jun 14 doi: 10.1016/j.ejpn.2015.06.001. PMID: 26112263
Glutaric aciduria type 1 (glutaryl-CoA-dehydrogenase deficiency): advances and unanswered questions. Report from an international meeting.
Superti-Furga A, Hoffmann GF
Eur J Pediatr 1997 Nov;156(11):821-8. doi: 10.1007/s004310050721. PMID: 9392391

Diagnosis

Genetic defects of thiamine transport and metabolism: A review of clinical phenotypes, genetics, and functional studies.
Marcé-Grau A, Martí-Sánchez L, Baide-Mairena H, Ortigoza-Escobar JD, Pérez-Dueñas B
J Inherit Metab Dis 2019 Jul;42(4):581-597. Epub 2019 Jun 24 doi: 10.1002/jimd.12125. PMID: 31095747
Kernicterus in a boy with ornithine transcarbamylase deficiency: A case report.
López-Corella E, Ibarra-González I, Fernández-Lainez C, Rodríguez-Weber MÁ, Guillén-Lopez S, Belmont-Martínez L, Agüero-Linares D, Vela-Amieva M
Neuropathology 2017 Dec;37(6):586-590. Epub 2017 Aug 16 doi: 10.1111/neup.12404. PMID: 28815739
Basal ganglia necrosis: a 'best-fit' approach.
Boca M, Lloyd K, Likeman M, Jardine P, Whone A
Pract Neurol 2016 Dec;16(6):458-461. Epub 2016 Aug 8 doi: 10.1136/practneurol-2016-001410. PMID: 27503951
Central nervous system imaging in mitochondrial disorders.
Finsterer J
Can J Neurol Sci 2009 Mar;36(2):143-53. doi: 10.1017/s0317167100006508. PMID: 19378706
Glutaric aciduria type 1 (glutaryl-CoA-dehydrogenase deficiency): advances and unanswered questions. Report from an international meeting.
Superti-Furga A, Hoffmann GF
Eur J Pediatr 1997 Nov;156(11):821-8. doi: 10.1007/s004310050721. PMID: 9392391

Therapy

Genetic defects of thiamine transport and metabolism: A review of clinical phenotypes, genetics, and functional studies.
Marcé-Grau A, Martí-Sánchez L, Baide-Mairena H, Ortigoza-Escobar JD, Pérez-Dueñas B
J Inherit Metab Dis 2019 Jul;42(4):581-597. Epub 2019 Jun 24 doi: 10.1002/jimd.12125. PMID: 31095747
Two cases of rapid onset Parkinson's syndrome following toxic ingestion of ethylene glycol and methanol.
Reddy NJ, Lewis LD, Gardner TB, Osterling W, Eskey CJ, Nierenberg DW
Clin Pharmacol Ther 2007 Jan;81(1):114-21. doi: 10.1038/sj.clpt.6100013. PMID: 17186009

Prognosis

Phenotypic Heterogeneity in Patients with Mutations in the Mitochondrial Complex I Assembly Gene NDUFAF5.
Chen PS, Lee NC, Sung CJ, Liu YW, Weng WC, Fan PC, Lee WT, Chien YH, Wu CS, Sung YF, Tsai MC, Lee YC, Hsueh HW, Fan SM, Wu MC, Li H, Chen HY, Lin HI, Ou-Yang CH, Hwuh WL, Lin CH
Mov Disord 2023 Dec;38(12):2217-2229. Epub 2023 Sep 27 doi: 10.1002/mds.29604. PMID: 37752895
Kernicterus in a boy with ornithine transcarbamylase deficiency: A case report.
López-Corella E, Ibarra-González I, Fernández-Lainez C, Rodríguez-Weber MÁ, Guillén-Lopez S, Belmont-Martínez L, Agüero-Linares D, Vela-Amieva M
Neuropathology 2017 Dec;37(6):586-590. Epub 2017 Aug 16 doi: 10.1111/neup.12404. PMID: 28815739
Basal ganglia necrosis: a 'best-fit' approach.
Boca M, Lloyd K, Likeman M, Jardine P, Whone A
Pract Neurol 2016 Dec;16(6):458-461. Epub 2016 Aug 8 doi: 10.1136/practneurol-2016-001410. PMID: 27503951
A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene.
Schottmann G, Sarpong A, Lorenz C, Weinhold N, Gill E, Teschner L, Ferdinandusse S, Wanders RJ, Prigione A, Schuelke M
Mov Disord 2016 Nov;31(11):1733-1739. Epub 2016 Jul 12 doi: 10.1002/mds.26704. PMID: 27400804
Glutaric aciduria type 1 (glutaryl-CoA-dehydrogenase deficiency): advances and unanswered questions. Report from an international meeting.
Superti-Furga A, Hoffmann GF
Eur J Pediatr 1997 Nov;156(11):821-8. doi: 10.1007/s004310050721. PMID: 9392391

Clinical prediction guides

Neuropathological characteristics and alteration of the dopamine D2 receptor in hypoxic-ischemic basal ganglia necrosis.
Meng SZ, Isumi H, Takashima S
Brain Dev 1998 Mar;20(2):98-104. doi: 10.1016/s0387-7604(98)00003-5. PMID: 9545180
Changes in AMPA glutamate and dopamine D2 receptors in hypoxic-ischemic basal ganglia necrosis.
Meng SZ, Ohyu J, Takashima S
Pediatr Neurol 1997 Sep;17(2):139-43. doi: 10.1016/s0887-8994(97)00087-8. PMID: 9367294

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