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T2 hypointense basal ganglia

MedGen UID:
868349
Concept ID:
C4022743
Finding
HPO: HP:0012753

Definition

A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a diffuse hypointensity affecting all of the basal ganglia. [from HPO]

Term Hierarchy

Conditions with this feature

Dystonia 32
MedGen UID:
1794239
Concept ID:
C5562029
Disease or Syndrome
Dystonia-32 (DYT32) is an autosomal recessive neurologic disorder characterized by sustained or intermittent muscle contractions causing abnormal movements or posturing. The onset of symptoms is in adulthood, and the disorder is slowly progressive with eventual generalized involvement of the limbs, trunk, neck, and larynx, resulting in dysarthria and dysphagia. Brain imaging may show abnormalities in the basal ganglia. There are no additional neurologic signs or symptoms (summary by Monfrini et al., 2021). In a review of the pathogenesis of disorders with prominent dystonia, Monfrini et al. (2021) classified DYT32 as belonging to a group of neurologic disorders termed 'HOPS-associated neurologic disorders' (HOPSANDs), which are caused by mutations in genes encoding various components of the autophagic/endolysosomal system, including VPS11.

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
Lou X, Tian C, Chen Z, Ma L
J Magn Reson Imaging 2012 Jul;36(1):92-8. Epub 2012 Feb 22 doi: 10.1002/jmri.23624. PMID: 22359249
Vanhanen SL, Raininko R, Santavuori P
AJNR Am J Neuroradiol 1994 Sep;15(8):1443-53. PMID: 7985561Free PMC Article

Recent clinical studies

Etiology

Belfeki N, Ghriss N, Fourati M, Leclercq D, Saadoun D
Rev Med Interne 2024 Oct;45(10):624-633. Epub 2024 Jun 26 doi: 10.1016/j.revmed.2024.06.007. PMID: 38937151
Bültmann E, Zapf A, Mussgnug HJ, Kanzelmeyer N, Hartmann H
Eur J Pediatr 2023 Oct;182(10):4663-4672. Epub 2023 Aug 10 doi: 10.1007/s00431-023-05130-w. PMID: 37558834Free PMC Article
Biswas A, Krishnan P, Amirabadi A, Blaser S, Mercimek-Andrews S, Shroff M
AJNR Am J Neuroradiol 2020 Oct;41(10):1930-1936. Epub 2020 Aug 27 doi: 10.3174/ajnr.A6726. PMID: 32855186Free PMC Article
Glatz A, Bastin ME, Kiker AJ, Deary IJ, Wardlaw JM, Valdés Hernández MC
Neuroimage 2015 Jan 15;105:332-46. Epub 2014 Oct 14 doi: 10.1016/j.neuroimage.2014.10.001. PMID: 25451469Free PMC Article
Kostić VS, Svetel M, Mijajlović M, Pavlović A, Ječmenica-Lukić M, Kozić D
J Neurol 2012 May;259(5):959-64. Epub 2011 Nov 5 doi: 10.1007/s00415-011-6294-4. PMID: 22057405

Diagnosis

Belfeki N, Ghriss N, Fourati M, Leclercq D, Saadoun D
Rev Med Interne 2024 Oct;45(10):624-633. Epub 2024 Jun 26 doi: 10.1016/j.revmed.2024.06.007. PMID: 38937151
Nikseresht G, Evia AM, Nag S, Leurgans SE, Capuano AW, Agam G, Barnes LL, Bennett DA, Schneider JA, Arfanakis K
Neurobiol Aging 2023 Sep;129:89-98. Epub 2023 May 8 doi: 10.1016/j.neurobiolaging.2023.05.005. PMID: 37279617Free PMC Article
Mascalchi M, Vella A
Int Rev Neurobiol 2018;143:109-162. Epub 2018 Oct 29 doi: 10.1016/bs.irn.2018.09.011. PMID: 30473193
Boddaert N, Brunelle F, Desguerre I
Handb Clin Neurol 2013;111:63-78. doi: 10.1016/B978-0-444-52891-9.00006-3. PMID: 23622151
Abe T, Kojima K, Shoji H, Tanaka N, Fujimoto K, Uchida M, Nishimura H, Hayabuchi N, Norbash AM
J Magn Reson Imaging 1998 Jul-Aug;8(4):755-61. doi: 10.1002/jmri.1880080402. PMID: 9702874

Therapy

Belfeki N, Ghriss N, Fourati M, Leclercq D, Saadoun D
Rev Med Interne 2024 Oct;45(10):624-633. Epub 2024 Jun 26 doi: 10.1016/j.revmed.2024.06.007. PMID: 38937151
Lau YH, Mawardi AS, Zain NR, Viswanathan S
Pract Neurol 2021 Oct;21(5):439-441. Epub 2021 May 26 doi: 10.1136/practneurol-2021-002942. PMID: 34039751
Hodel J, Outteryck O, Verclytte S, Deramecourt V, Lacour A, Pruvo JP, Vermersch P, Leclerc X
AJNR Am J Neuroradiol 2015 Dec;36(12):2296-302. Epub 2015 Aug 27 doi: 10.3174/ajnr.A4436. PMID: 26316568Free PMC Article
Hobbs K, Stern-Nezer S, Buckwalter MS, Fischbein N, Finley Caulfield A
Neurocrit Care 2015 Jun;22(3):429-36. doi: 10.1007/s12028-014-0102-9. PMID: 25561434
Chabriat H, Levy C, Taillia H, Iba-Zizen MT, Vahedi K, Joutel A, Tournier-Lasserve E, Bousser MG
Neurology 1998 Aug;51(2):452-7. doi: 10.1212/wnl.51.2.452. PMID: 9710018

Prognosis

Belfeki N, Ghriss N, Fourati M, Leclercq D, Saadoun D
Rev Med Interne 2024 Oct;45(10):624-633. Epub 2024 Jun 26 doi: 10.1016/j.revmed.2024.06.007. PMID: 38937151
Bültmann E, Zapf A, Mussgnug HJ, Kanzelmeyer N, Hartmann H
Eur J Pediatr 2023 Oct;182(10):4663-4672. Epub 2023 Aug 10 doi: 10.1007/s00431-023-05130-w. PMID: 37558834Free PMC Article
Nikseresht G, Evia AM, Nag S, Leurgans SE, Capuano AW, Agam G, Barnes LL, Bennett DA, Schneider JA, Arfanakis K
Neurobiol Aging 2023 Sep;129:89-98. Epub 2023 May 8 doi: 10.1016/j.neurobiolaging.2023.05.005. PMID: 37279617Free PMC Article
Hobbs K, Stern-Nezer S, Buckwalter MS, Fischbein N, Finley Caulfield A
Neurocrit Care 2015 Jun;22(3):429-36. doi: 10.1007/s12028-014-0102-9. PMID: 25561434
Abe T, Kojima K, Shoji H, Tanaka N, Fujimoto K, Uchida M, Nishimura H, Hayabuchi N, Norbash AM
J Magn Reson Imaging 1998 Jul-Aug;8(4):755-61. doi: 10.1002/jmri.1880080402. PMID: 9702874

Clinical prediction guides

Nikseresht G, Evia AM, Nag S, Leurgans SE, Capuano AW, Agam G, Barnes LL, Bennett DA, Schneider JA, Arfanakis K
Neurobiol Aging 2023 Sep;129:89-98. Epub 2023 May 8 doi: 10.1016/j.neurobiolaging.2023.05.005. PMID: 37279617Free PMC Article
Mascalchi M, Vella A
Int Rev Neurobiol 2018;143:109-162. Epub 2018 Oct 29 doi: 10.1016/bs.irn.2018.09.011. PMID: 30473193
Schneider E, Ng KM, Yeoh CS, Rumpel H, Fook-Chong S, Li HH, Tan EK, Chan LL
Medicine (Baltimore) 2016 Jun;95(26):e3730. doi: 10.1097/MD.0000000000003730. PMID: 27367979Free PMC Article
Nagappa M, Sinha S, Saini JS, Kallolimath P, Singh N, Kumar A, Bindu PS, Taly AB
J Clin Neurosci 2016 May;27:91-4. Epub 2016 Jan 4 doi: 10.1016/j.jocn.2015.06.035. PMID: 26765764
Hayflick SJ
Curr Opin Pediatr 2003 Dec;15(6):572-7. doi: 10.1097/00008480-200312000-00005. PMID: 14631201

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