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Posterior atrophy of corpus callosum

MedGen UID:
1786962
Concept ID:
C5543630
Disease or Syndrome
Synonym: Posterior atrophy of the corpus callosum
 
HPO: HP:0034007

Definition

The presence of atrophy (wasting) of the posterior portion of the corpus callosum. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPosterior atrophy of corpus callosum

Conditions with this feature

Spinocerebellar ataxia, autosomal recessive 31
MedGen UID:
1786855
Concept ID:
C5543627
Disease or Syndrome
Autosomal recessive spinocerebellar ataxia-31 (SCAR31) is a complex neurodevelopmental disorder characterized by global developmental delay with hypotonia and variably impaired intellectual and language development. Affected individuals have an ataxic gait, tremor, and dysarthria; more severely affected patients also have spasticity with inability to walk. Most have optic atrophy. Brain imaging shows cerebellar hypoplasia, enlarged ventricles, and atrophy of the posterior corpus callosum. Additional features may include retinitis pigmentosa, sensorineural deafness, dysmorphic facial features, and possibly endocrine dysfunction (summary by Collier et al., 2021).

Professional guidelines

PubMed

Garcia-Miralles M, Yusof NABM, Tan JY, Radulescu CI, Sidik H, Tan LJ, Belinson H, Zach N, Hayden MR, Pouladi MA
Mol Neurobiol 2019 Jun;56(6):4464-4478. Epub 2018 Oct 17 doi: 10.1007/s12035-018-1393-1. PMID: 30334188

Recent clinical studies

Etiology

Nowaczyk N, Cierpiałkowska L, Mikołajczak M
J Integr Neurosci 2023 Dec 14;22(6):173. doi: 10.31083/j.jin2206173. PMID: 38176914
Platten M, Ouellette R, Herranz E, Barletta V, Treaba CA, Mainero C, Granberg T
J Neuroimaging 2022 May;32(3):471-479. Epub 2022 Feb 14 doi: 10.1111/jon.12977. PMID: 35165979Free PMC Article
Keller J, Kavkova A, Matej R, Cséfalvay Z, Rusina R
Eur J Neurol 2022 Jan;29(1):324-328. Epub 2021 Sep 12 doi: 10.1111/ene.15090. PMID: 34469612Free PMC Article
Goldman JG, Bledsoe IO, Merkitch D, Dinh V, Bernard B, Stebbins GT
Neurology 2017 Mar 28;88(13):1265-1272. Epub 2017 Feb 24 doi: 10.1212/WNL.0000000000003764. PMID: 28235816Free PMC Article
Frederiksen KS
Dan Med J 2013 Oct;60(10):B4721. PMID: 24083533

Diagnosis

Touron E, Moulinet I, Kuhn E, Sherif S, Ourry V, Landeau B, Mézenge F, Vivien D, Klimecki OM, Poisnel G, Marchant NL, Chételat G; Alzheimer’s Disease Neuroimaging Initiative; Medit-Ageing Research Group
Mol Psychiatry 2022 Dec;27(12):5086-5095. Epub 2022 Oct 18 doi: 10.1038/s41380-022-01772-8. PMID: 36258017Free PMC Article
Zhuo Z, Duan Y, Tian D, Wang X, Gao C, Ding J, Zheng F, Zhang T, Zhang X, Barkhof F, Shi FD, Liu Y
Mult Scler 2021 Aug;27(9):1350-1363. Epub 2020 Oct 15 doi: 10.1177/1352458520964415. PMID: 33054621
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
Li J, Pan P, Huang R, Shang H
Neurosci Biobehav Rev 2012 Feb;36(2):757-63. Epub 2011 Dec 16 doi: 10.1016/j.neubiorev.2011.12.001. PMID: 22192882
Rubinstein D, Youngman V, Hise JH, Damiano TR
AJNR Am J Neuroradiol 1994 May;15(5):869-75. PMID: 8059653Free PMC Article

Therapy

Conti L, Preziosa P, Meani A, Pagani E, Valsasina P, Marchesi O, Vizzino C, Rocca MA, Filippi M
Eur J Neurol 2021 Nov;28(11):3749-3759. Epub 2021 Jul 29 doi: 10.1111/ene.15023. PMID: 34255918
Huynh-Le MP, Tibbs MD, Karunamuni R, Salans M, Tringale KR, Yip A, Connor M, Simon AB, Vitzthum LK, Reyes A, Macari AC, Moiseenko V, McDonald CR, Hattangadi-Gluth JA
Int J Radiat Oncol Biol Phys 2021 Jun 1;110(2):337-347. Epub 2021 Jan 4 doi: 10.1016/j.ijrobp.2020.12.046. PMID: 33412257Free PMC Article
Drew DA, Koo BB, Bhadelia R, Weiner DE, Duncan S, la Garza MM, Gupta A, Tighiouart H, Scott T, Sarnak MJ
BMC Nephrol 2017 Jul 5;18(1):213. doi: 10.1186/s12882-017-0628-0. PMID: 28676035Free PMC Article
Dinomais M, Hertz-Pannier L, Groeschel S, Delion M, Husson B, Kossorotoff M, Renaud C, Chabrier S, The Tich SN; AVCnn Study Group
Stroke 2016 Jun;47(6):1647-50. Epub 2016 May 10 doi: 10.1161/STROKEAHA.116.013545. PMID: 27165960
Kohler CG, Ances BM, Coleman AR, Ragland JD, Lazarev M, Gur RC
Neuropsychiatry Neuropsychol Behav Neurol 2000 Jan;13(1):67-76. PMID: 10645739

Prognosis

Nowaczyk N, Cierpiałkowska L, Mikołajczak M
J Integr Neurosci 2023 Dec 14;22(6):173. doi: 10.31083/j.jin2206173. PMID: 38176914
Platten M, Ouellette R, Herranz E, Barletta V, Treaba CA, Mainero C, Granberg T
J Neuroimaging 2022 May;32(3):471-479. Epub 2022 Feb 14 doi: 10.1111/jon.12977. PMID: 35165979Free PMC Article
Agosta F, Mandic-Stojmenovic G, Canu E, Stojkovic T, Imperiale F, Caso F, Stefanova E, Copetti M, Kostic VS, Filippi M
Neuroimage Clin 2018;19:901-910. Epub 2018 Jun 12 doi: 10.1016/j.nicl.2018.06.013. PMID: 30013929Free PMC Article
Goldman JG, Bledsoe IO, Merkitch D, Dinh V, Bernard B, Stebbins GT
Neurology 2017 Mar 28;88(13):1265-1272. Epub 2017 Feb 24 doi: 10.1212/WNL.0000000000003764. PMID: 28235816Free PMC Article
Frederiksen KS, Garde E, Skimminge A, Barkhof F, Scheltens P, van Straaten EC, Fazekas F, Baezner H, Verdelho A, Ferro JM, Erkinjuntti T, Jokinen H, Wahlund LO, O'Brien JT, Basile AM, Pantoni L, Inzitari D, Waldemar G
Dement Geriatr Cogn Disord 2011;32(4):279-86. Epub 2012 Jan 19 doi: 10.1159/000334949. PMID: 22262017

Clinical prediction guides

Nowaczyk N, Cierpiałkowska L, Mikołajczak M
J Integr Neurosci 2023 Dec 14;22(6):173. doi: 10.31083/j.jin2206173. PMID: 38176914
Platten M, Ouellette R, Herranz E, Barletta V, Treaba CA, Mainero C, Granberg T
J Neuroimaging 2022 May;32(3):471-479. Epub 2022 Feb 14 doi: 10.1111/jon.12977. PMID: 35165979Free PMC Article
Keller J, Kavkova A, Matej R, Cséfalvay Z, Rusina R
Eur J Neurol 2022 Jan;29(1):324-328. Epub 2021 Sep 12 doi: 10.1111/ene.15090. PMID: 34469612Free 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
Goldman JG, Bledsoe IO, Merkitch D, Dinh V, Bernard B, Stebbins GT
Neurology 2017 Mar 28;88(13):1265-1272. Epub 2017 Feb 24 doi: 10.1212/WNL.0000000000003764. PMID: 28235816Free PMC Article

Recent systematic reviews

Li J, Pan P, Huang R, Shang H
Neurosci Biobehav Rev 2012 Feb;36(2):757-63. Epub 2011 Dec 16 doi: 10.1016/j.neubiorev.2011.12.001. PMID: 22192882

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