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Abnormal cerebellar peduncle morphology

MedGen UID:
868718
Concept ID:
C4023121
Anatomical Abnormality
Synonym: Abnormality of the cerebellar peduncle
 
HPO: HP:0011931

Definition

An anomaly of the cerebellar peduncles. The superior, middle, and inferior cerebellar peduncles emerge from the cerebellum. The superior cerebellar penduncles connect the cerebellum to the midbrain, the middle cerebellar peduncles connect the cerebellum to the pons, and the inferior cerebellar peduncle connects the medulla spinalis and medulla oblongata with the cerebellum. [from HPO]

Professional guidelines

PubMed

Corrêa DG, Telles B, Freddi TAL
Clin Radiol 2024 Feb;79(2):94-101. Epub 2023 Nov 29 doi: 10.1016/j.crad.2023.11.010. PMID: 38092645
Leibovitz Z, Guibaud L, Garel C, Massoud M, Karl K, Malinger G, Haratz KK, Gindes L, Tamarkin M, Ben-Sira L, Lev D, Shalev J, Brasseur-Daudruy M, Contreras Gutierrez de Piñeres CA, Lerman-Sagie T
Eur J Paediatr Neurol 2018 Nov;22(6):900-909. Epub 2018 Sep 1 doi: 10.1016/j.ejpn.2018.08.006. PMID: 30209013
Hagerman RJ, Hagerman P
Nat Rev Neurol 2016 Jul;12(7):403-12. Epub 2016 Jun 24 doi: 10.1038/nrneurol.2016.82. PMID: 27340021

Recent clinical studies

Etiology

Qiu H, Wu C, Liang J, Hu M, Chen Y, Huang Z, Yang Z, Zhao J, Chu J
Eur Radiol 2023 Apr;33(4):2881-2894. Epub 2022 Nov 12 doi: 10.1007/s00330-022-09214-3. PMID: 36370172
Yang W, Zhang H, Cai Y, Peng X, Sun H, Chen J, Ying Z, Zhu K, Peng Y, Ge M
J Neurosurg Pediatr 2022 Dec 1;30(6):567-577. Epub 2022 Oct 7 doi: 10.3171/2022.8.PEDS22294. PMID: 36208442
Fouda MA, Kim TY, Cohen AR
World Neurosurg 2022 Mar;159:48-53. Epub 2021 Dec 22 doi: 10.1016/j.wneu.2021.12.062. PMID: 34954057
Meoded A, Kukreja M, Orman G, Boltshauser E, Huisman TAGM
Neuropediatrics 2022 Jun;53(3):195-199. Epub 2021 Oct 21 doi: 10.1055/s-0041-1732310. PMID: 34674207
Zafarullah M, Tassone F
Methods Mol Biol 2019;1942:173-189. doi: 10.1007/978-1-4939-9080-1_15. PMID: 30900185

Diagnosis

Fouda MA, Kim TY, Cohen AR
World Neurosurg 2022 Mar;159:48-53. Epub 2021 Dec 22 doi: 10.1016/j.wneu.2021.12.062. PMID: 34954057
Cabal-Herrera AM, Tassanakijpanich N, Salcedo-Arellano MJ, Hagerman RJ
Int J Mol Sci 2020 Jun 20;21(12) doi: 10.3390/ijms21124391. PMID: 32575683Free 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
Poretti A, Boltshauser E, Huisman TAGM
Cerebellum 2016 Feb;15(1):5-9. doi: 10.1007/s12311-015-0699-z. PMID: 26166429
Brooks DJ
Parkinsonism Relat Disord 2012 Jan;18 Suppl 1:S31-3. doi: 10.1016/S1353-8020(11)70012-8. PMID: 22166447

Therapy

Yang W, Zhang H, Cai Y, Peng X, Sun H, Chen J, Ying Z, Zhu K, Peng Y, Ge M
J Neurosurg Pediatr 2022 Dec 1;30(6):567-577. Epub 2022 Oct 7 doi: 10.3171/2022.8.PEDS22294. PMID: 36208442
Pasquini J, Firbank MJ, Ceravolo R, Silani V, Pavese N
Mov Disord 2022 Oct;37(10):1963-1984. Epub 2022 Aug 29 doi: 10.1002/mds.29195. PMID: 36036378Free PMC Article
Preziosa P, Rocca MA, Mesaros S, Pagani E, Drulovic J, Stosic-Opincal T, Dackovic J, Copetti M, Caputo D, Filippi M
Radiology 2014 Jun;271(3):822-30. Epub 2014 Feb 19 doi: 10.1148/radiol.13132142. PMID: 24555637
Kong LM, Zheng WB, Lian GP, Zhang HD
AJNR Am J Neuroradiol 2012 May;33(5):928-34. Epub 2012 Jan 12 doi: 10.3174/ajnr.A2873. PMID: 22241391Free PMC Article
Lapresle J
Adv Neurol 1986;43:265-73. PMID: 3484855

Prognosis

Grijalva RM, Pham NTT, Huang Q, Martin PR, Ali F, Clark HM, Duffy JR, Utianski RL, Botha H, Machulda MM, Weigand SD, Ahlskog JE, Dickson DW, Josephs KA, Whitwell JL
Mov Disord 2022 Apr;37(4):702-712. Epub 2021 Dec 31 doi: 10.1002/mds.28901. PMID: 34970796Free PMC Article
Serpieri V, D'Abrusco F, Dempsey JC, Cheng YH, Arrigoni F, Baker J, Battini R, Bertini ES, Borgatti R, Christman AK, Curry C, D'Arrigo S, Fluss J, Freilinger M, Gana S, Ishak GE, Leuzzi V, Loucks H, Manti F, Mendelsohn N, Merlini L, Miller CV, Muhammad A, Nuovo S, Romaniello R, Schmidt W, Signorini S, Siliquini S, Szczałuba K, Vasco G, Wilson M, Zanni G, Boltshauser E, Doherty D, Valente EM; University of Washington Center for Mendelian Genomics (UW-CMG) group
J Med Genet 2022 Sep;59(9):888-894. Epub 2021 Oct 21 doi: 10.1136/jmedgenet-2021-108114. PMID: 34675124Free PMC Article
Meoded A, Kukreja M, Orman G, Boltshauser E, Huisman TAGM
Neuropediatrics 2022 Jun;53(3):195-199. Epub 2021 Oct 21 doi: 10.1055/s-0041-1732310. PMID: 34674207
Marchesi O, Bonacchi R, Valsasina P, Preziosa P, Pagani E, Cacciaguerra L, Meani A, Conti L, Mistri D, Rocca MA, Filippi M
Mult Scler 2022 Apr;28(5):742-756. Epub 2021 Aug 13 doi: 10.1177/13524585211033184. PMID: 34387534
Poretti A, Boltshauser E, Huisman TAGM
Cerebellum 2016 Feb;15(1):5-9. doi: 10.1007/s12311-015-0699-z. PMID: 26166429

Clinical prediction guides

Yang W, Zhang H, Cai Y, Peng X, Sun H, Chen J, Ying Z, Zhu K, Peng Y, Ge M
J Neurosurg Pediatr 2022 Dec 1;30(6):567-577. Epub 2022 Oct 7 doi: 10.3171/2022.8.PEDS22294. PMID: 36208442
Grijalva RM, Pham NTT, Huang Q, Martin PR, Ali F, Clark HM, Duffy JR, Utianski RL, Botha H, Machulda MM, Weigand SD, Ahlskog JE, Dickson DW, Josephs KA, Whitwell JL
Mov Disord 2022 Apr;37(4):702-712. Epub 2021 Dec 31 doi: 10.1002/mds.28901. PMID: 34970796Free PMC Article
Lee KH, Oh H, Suh JS, Cho KIK, Yoon YB, Shin WG, Lee TY, Kwon JS
J Neuropsychiatry Clin Neurosci 2019 Spring;31(2):143-151. Epub 2018 Dec 18 doi: 10.1176/appi.neuropsych.17110276. PMID: 30561280
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
Preziosa P, Rocca MA, Mesaros S, Pagani E, Drulovic J, Stosic-Opincal T, Dackovic J, Copetti M, Caputo D, Filippi M
Radiology 2014 Jun;271(3):822-30. Epub 2014 Feb 19 doi: 10.1148/radiol.13132142. PMID: 24555637

Recent systematic reviews

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

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