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Abnormal cerebellar cortex morphology

MedGen UID:
1620725
•Concept ID:
C4531132
•
Anatomical Abnormality
Synonym: Abnormal morphology of the cerebellar cortex
 
HPO: HP:0031422

Definition

Any structural anomaly of the cortex of the cerebellum. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal cerebellar cortex morphology

Professional guidelines

PubMed

Prenatal diagnosis of rhombencephalosynapsis: neuroimaging features and severity of vermian anomaly.
Krajden Haratz K, Oliveira Szejnfeld P, Govindaswamy M, Leibovitz Z, Gindes L, Severino M, Rossi A, Paladini D, Garcia Rodriguez R, Ben-Sira L, Borkowski Tillman T, Gupta R, Lotem G, Raz N, Hamamoto TENK, Kidron D, Arad A, Birnbaum R, Brussilov M, Pomar L, Vial Y, Leventer RJ, McGillivray G, Fink M, Krzeszowski W, Fernandes Moron A, Lev D, Tamarkin M, Shalev J, Har Toov J, Lerman-Sagie T, Malinger G
Ultrasound Obstet Gynecol 2021 Dec;58(6):864-874. doi: 10.1002/uog.23660. PMID: 33942916
A newborn case of adenylosuccinate lyase deficiency with a novel heterozygous mutation diagnosed by whole exome sequencing.
Cakmak Celik F, Ozlu MM, Ceylaner S
Clin Neurol Neurosurg 2021 Mar;202:106506. Epub 2021 Jan 19 doi: 10.1016/j.clineuro.2021.106506. PMID: 33497949
Differential Diagnosis of Cerebellar Atrophy in Childhood: An Update.
Poretti A, Wolf NI, Boltshauser E
Neuropediatrics 2015 Dec;46(6):359-70. Epub 2015 Oct 7 doi: 10.1055/s-0035-1564620. PMID: 26444039

Recent clinical studies

Etiology

Secondary cerebro-cerebellar and intra-cerebellar dysfunction in cerebellar mutism syndrome.
McAfee SS, Robinson G, Gajjar A, Phillips NS, Zhang S, Zou Stinnett P, Sitaram R, Raches D, Conklin HM, Khan RB, Scoggins MA
Neuro Oncol 2024 Sep 5;26(9):1700-1711. doi: 10.1093/neuonc/noae070. PMID: 38581226Free PMC Article
Expanding the Spectrum of NUBPL-Related Leukodystrophy.
Tonduti D, Zambon AA, Ghezzi D, Lamantea E, Izzo R, Parazzini C, Baldoli C, van der Knaap MS, Fumagalli F
Neuropediatrics 2023 Jun;54(3):161-166. Epub 2023 Mar 3 doi: 10.1055/s-0043-1764214. PMID: 36868263
Neuropathology of blepharospasm.
Fagan M, Scorr L, Bernhardt D, Hess EJ, Perlmutter JS, Pardo CA, Jinnah HA
Exp Neurol 2021 Dec;346:113855. Epub 2021 Aug 28 doi: 10.1016/j.expneurol.2021.113855. PMID: 34464652Free PMC Article
Identifying essential cell types and circuits in autism spectrum disorders.
Maloney SE, Rieger MA, Dougherty JD
Int Rev Neurobiol 2013;113:61-96. doi: 10.1016/B978-0-12-418700-9.00003-4. PMID: 24290383Free PMC Article
Ohtahara syndrome.
Karunanayake MC, Perera BJ
Ceylon Med J 2003 Sep;48(3):89-90. doi: 10.4038/cmj.v48i3.3354. PMID: 14735807

Diagnosis

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
Ataxia telangiectasia: a review.
Rothblum-Oviatt C, Wright J, Lefton-Greif MA, McGrath-Morrow SA, Crawford TO, Lederman HM
Orphanet J Rare Dis 2016 Nov 25;11(1):159. doi: 10.1186/s13023-016-0543-7. PMID: 27884168Free PMC Article
Walker-Warburg syndrome.
Rhodes RE, Hatten HP Jr, Ellington KS
AJNR Am J Neuroradiol 1992 Jan-Feb;13(1):123-6. PMID: 1595429Free PMC Article
Posterior fossa malformations.
Altman NR, Naidich TP, Braffman BH
AJNR Am J Neuroradiol 1992 Mar-Apr;13(2):691-724. PMID: 1566724Free PMC Article
Fragile X syndrome.
Reiss AL, Freund L
Biol Psychiatry 1990 Jan 15;27(2):223-40. doi: 10.1016/0006-3223(90)90652-i. PMID: 2403814

Therapy

AAV9-NPC1 significantly ameliorates Purkinje cell death and behavioral abnormalities in mouse NPC disease.
Xie C, Gong XM, Luo J, Li BL, Song BL
J Lipid Res 2017 Mar;58(3):512-518. Epub 2017 Jan 4 doi: 10.1194/jlr.M071274. PMID: 28053186Free PMC Article
Ohtahara syndrome.
Karunanayake MC, Perera BJ
Ceylon Med J 2003 Sep;48(3):89-90. doi: 10.4038/cmj.v48i3.3354. PMID: 14735807
Base excision repair of mitochondrial DNA damage in mammalian cells.
LeDoux SP, Wilson GL
Prog Nucleic Acid Res Mol Biol 2001;68:273-84. doi: 10.1016/s0079-6603(01)68106-6. PMID: 11554303
Toxicity to the nervous system of diphenylhydantoin: a review.
Ziegler DK
Int J Neurol 1978;11(4):383-400. PMID: 94596
Cardiac conduction pathways in the infant and child.
Massing GK, Liebman J, James TN
Cardiovasc Clin 1972;4(3):27-42. PMID: 4591017

Prognosis

Dandy-Walker Malformation.
Society for Maternal-Fetal Medicine (SMFM), Monteagudo A
Am J Obstet Gynecol 2020 Dec;223(6):B38-B41. Epub 2020 Nov 7 doi: 10.1016/j.ajog.2020.08.184. PMID: 33168220
Brainstem dysgenesis: beyond Moebius syndrome.
Munell F, Tormos MA, Roig-Quilis M
Rev Neurol 2018 Apr 1;66(7):241-250. PMID: 29557550
Ataxia telangiectasia: a review.
Rothblum-Oviatt C, Wright J, Lefton-Greif MA, McGrath-Morrow SA, Crawford TO, Lederman HM
Orphanet J Rare Dis 2016 Nov 25;11(1):159. doi: 10.1186/s13023-016-0543-7. PMID: 27884168Free PMC Article
The Cerebellum and Neurodevelopmental Disorders.
Stoodley CJ
Cerebellum 2016 Feb;15(1):34-37. doi: 10.1007/s12311-015-0715-3. PMID: 26298473Free PMC Article
Ohtahara syndrome.
Karunanayake MC, Perera BJ
Ceylon Med J 2003 Sep;48(3):89-90. doi: 10.4038/cmj.v48i3.3354. PMID: 14735807

Clinical prediction guides

Motor neuron pathology in CANVAS due to RFC1 expansions.
Huin V, Coarelli G, Guemy C, Boluda S, Debs R, Mochel F, Stojkovic T, Grabli D, Maisonobe T, Gaymard B, Lenglet T, Tard C, Davion JB, Sablonnière B, Monin ML, Ewenczyk C, Viala K, Charles P, Le Ber I, Reilly MM, Houlden H, Cortese A, Seilhean D, Brice A, Durr A
Brain 2022 Jun 30;145(6):2121-2132. doi: 10.1093/brain/awab449. PMID: 34927205
The basal ganglia and the cerebellum: nodes in an integrated network.
Bostan AC, Strick PL
Nat Rev Neurosci 2018 Jun;19(6):338-350. doi: 10.1038/s41583-018-0002-7. PMID: 29643480Free PMC Article
The Cerebellum and Neurodevelopmental Disorders.
Stoodley CJ
Cerebellum 2016 Feb;15(1):34-37. doi: 10.1007/s12311-015-0715-3. PMID: 26298473Free PMC Article
Essential Tremor: A Common Disorder of Purkinje Neurons?
Louis ED
Neuroscientist 2016 Apr;22(2):108-18. Epub 2015 Jun 4 doi: 10.1177/1073858415590351. PMID: 26044399Free PMC Article
Pierre Robin syndrome: clinical, light and electron-microscopic and biochemical observations in a case.
Haberland C, Daniels A, Dawson G
Acta Neuropathol 1974;30(2):91-107. doi: 10.1007/BF00685436. PMID: 4446963

Recent systematic reviews

Case report and systematic review of cerebellar vermis alterations in psychosis.
Dusi N, Esposito CM, Delvecchio G, Prunas C, Brambilla P
Int Clin Psychopharmacol 2024 Jul 1;39(4):223-231. Epub 2024 Feb 13 doi: 10.1097/YIC.0000000000000535. PMID: 38266159Free PMC Article
Resting-state fMRI in depressive and (hypo)manic mood states in bipolar disorders: A systematic review.
Claeys EHI, Mantingh T, Morrens M, Yalin N, Stokes PRA
Prog Neuropsychopharmacol Biol Psychiatry 2022 Mar 8;113:110465. Epub 2021 Nov 2 doi: 10.1016/j.pnpbp.2021.110465. PMID: 34736998
The value of novel MRI techniques in Parkinson-plus syndromes: diffusion tensor imaging and anatomical connectivity studies.
Tir M, Delmaire C, Besson P, Defebvre L
Rev Neurol (Paris) 2014 Apr;170(4):266-76. Epub 2014 Mar 20 doi: 10.1016/j.neurol.2013.10.013. PMID: 24656811
Neuroimaging predictors of transition to psychosis--a systematic review and meta-analysis.
Smieskova R, Fusar-Poli P, Allen P, Bendfeldt K, Stieglitz RD, Drewe J, Radue EW, McGuire PK, Riecher-Rössler A, Borgwardt SJ
Neurosci Biobehav Rev 2010 Jul;34(8):1207-22. Epub 2010 Feb 6 doi: 10.1016/j.neubiorev.2010.01.016. PMID: 20144653

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