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Cerebellar involvement in warts Hypogammaglobulinemia immunodeficiency myelokathexis patients: neuroimaging and clinical findings.
Galli J, Pinelli L, Micheletti S, Palumbo G, Notarangelo LD, Lougaris V, Dotta L, Fazzi E, Badolato R. Galli J, et al. Orphanet J Rare Dis. 2019 Feb 28;14(1):61. doi: 10.1186/s13023-019-1030-8. Orphanet J Rare Dis. 2019. PMID: 30819232 Free PMC article.
The neuropsychiatric evaluation showed increased risk of internalizing and/or externalizing problems in four patients (P2, P3, P4, P6). CONCLUSIONS: Taken together, these observations suggest CXCR4 gain of function mutations can be associated with cerebellar malf …
The neuropsychiatric evaluation showed increased risk of internalizing and/or externalizing problems in four patients (P2, P3, P4, P6). CONC …
Developmental outcomes in children with congenital cerebellar malformations.
Pinchefsky EF, Accogli A, Shevell MI, Saint-Martin C, Srour M. Pinchefsky EF, et al. Dev Med Child Neurol. 2019 Mar;61(3):350-358. doi: 10.1111/dmcn.14059. Epub 2018 Oct 15. Dev Med Child Neurol. 2019. PMID: 30320441 Free article.
RESULTS: CCM categories were distributed as follows: 28 percent isolated vermis hypoplasia (n=19), 28 percent global cerebellar hypoplasia (n=19), 15 percent Dandy-Walker malformation (n=10), 13 percent pontocerebellar hypoplasia (PCH, n=9), 9 percent molar tooth malformation (n= …
RESULTS: CCM categories were distributed as follows: 28 percent isolated vermis hypoplasia (n=19), 28 percent global cerebellar hypoplasia ( …
Severe cerebellar malformations in mutant mice demonstrate a role for PDGF-C/PDGFRα signalling in cerebellar development.
Gillnäs S, Gallini R, He L, Betsholtz C, Andrae J. Gillnäs S, et al. Biol Open. 2022 Aug 15;11(8):bio059431. doi: 10.1242/bio.059431. Epub 2022 Aug 9. Biol Open. 2022. PMID: 35876806 Free PMC article.
Double-mutant mice lacking platelet-derived growth factor C (PDGF-C) and that are heterozygous for platelet-derived growth factor receptor alpha (Pdgfc-/-; PdgfraGFP/+) develop cerebellar hypoplasia and malformation with loss of cerebellar lobes in the posterior vermis. This phen …
Double-mutant mice lacking platelet-derived growth factor C (PDGF-C) and that are heterozygous for platelet-derived growth factor receptor a …
Compound heterozygous splicing variants in KIAA0586 cause fetal short-rib thoracic dysplasia and cerebellar malformation: Use of exome sequencing in prenatal diagnosis.
Zhao Q, Xu B, Xiang Q, Tan Y, Xie H, Gao Q, Wen L, Wang H, Yang M, Liu S. Zhao Q, et al. Mol Genet Genomic Med. 2023 Mar;11(3):e2124. doi: 10.1002/mgg3.2124. Epub 2022 Dec 20. Mol Genet Genomic Med. 2023. PMID: 36538006 Free PMC article.
BACKGROUND: Short-rib thoracic dysplasia (SRTD) and Joubert syndrome (JS) are rare genetic ciliopathies, and individuals with either syndrome can manifest cerebellar malformation and variable developmental delays. However, neither of these conditions is easily diagn …
BACKGROUND: Short-rib thoracic dysplasia (SRTD) and Joubert syndrome (JS) are rare genetic ciliopathies, and individuals with either syndrom …
Normal intellectual skills in patients with Rhombencephalosynapsis.
Bonnetain MF, Rougeot-Jung C, Sarret C, Lion-François L, Revol O, Peyric E, Velazquez-Dominguez J, Miret A, Rossi M, Massoud M, Laurichesse-Delmas H, Guibaud L, des Portes V. Bonnetain MF, et al. Eur J Paediatr Neurol. 2020 Nov;29:92-100. doi: 10.1016/j.ejpn.2020.09.007. Epub 2020 Sep 30. Eur J Paediatr Neurol. 2020. PMID: 33046393
OBJECTIVES: Rhombencephalosynapsis (RES) is a very rare cerebellar malformation. Neurodevelopmental outcome of apparently isolated RES remains poorly documented and standardized cognitive assessment, reported in only nine published cases so far, is lacking. ...One p …
OBJECTIVES: Rhombencephalosynapsis (RES) is a very rare cerebellar malformation. Neurodevelopmental outcome of apparently isol …
Looking at cerebellar malformations through text-mined interactomes of mice and humans.
Iossifov I, Rodriguez-Esteban R, Mayzus I, Millen KJ, Rzhetsky A. Iossifov I, et al. PLoS Comput Biol. 2009 Nov;5(11):e1000559. doi: 10.1371/journal.pcbi.1000559. Epub 2009 Nov 6. PLoS Comput Biol. 2009. PMID: 19893633 Free PMC article.
Using our newly generated networks and known associations between mouse genes and cerebellar malformation phenotypes, we predicted a number of new associations between genes and five cerebellar phenotypes (small cerebellum, absent cerebellum, cerebellar degen …
Using our newly generated networks and known associations between mouse genes and cerebellar malformation phenotypes, we pr …
Regional cerebellar volumes predict functional outcome in children with cerebellar malformations.
Bolduc ME, du Plessis AJ, Sullivan N, Guizard N, Zhang X, Robertson RL, Limperopoulos C. Bolduc ME, et al. Cerebellum. 2012 Jun;11(2):531-42. doi: 10.1007/s12311-011-0312-z. Cerebellum. 2012. PMID: 21901523
The objective of this study was to estimate the extent to which total and regional cerebellar volumes are associated with developmental disabilities in a cohort of children with cerebellar malformations. Children aged 1 to 6 years with a diagnosis of cerebellar malforma …
The objective of this study was to estimate the extent to which total and regional cerebellar volumes are associated with developmental disa …
Phenotypic outcomes in Mouse and Human Foxc1 dependent Dandy-Walker cerebellar malformation suggest shared mechanisms.
Haldipur P, Dang D, Aldinger KA, Janson OK, Guimiot F, Adle-Biasette H, Dobyns WB, Siebert JR, Russo R, Millen KJ. Haldipur P, et al. Elife. 2017 Jan 16;6:e20898. doi: 10.7554/eLife.20898. Elife. 2017. PMID: 28092268 Free PMC article.
FOXC1 loss contributes to Dandy-Walker malformation (DWM), a common human cerebellar malformation. Previously, we found that complete Foxc1 loss leads to aberrations in proliferation, neuronal differentiation and migration in the embryonic mouse cerebellum (Haldipur …
FOXC1 loss contributes to Dandy-Walker malformation (DWM), a common human cerebellar malformation. Previously, we found that c …
Neurorestorative effects of cerebellar transcranial direct current stimulation on social prediction of adolescents and young adults with congenital cerebellar malformations.
Oldrati V, Butti N, Ferrari E, Strazzer S, Romaniello R, Borgatti R, Urgesi C, Finisguerra A. Oldrati V, et al. Neuroimage Clin. 2024;41:103582. doi: 10.1016/j.nicl.2024.103582. Epub 2024 Feb 28. Neuroimage Clin. 2024. PMID: 38428326 Free PMC article.
BACKGROUND: Converging evidence points to impairments of the predictive function exerted by the cerebellum as one of the causes of the social cognition deficits observed in patients with cerebellar disorders. ...CONCLUSIONS: These findings corroborate the role of th …
BACKGROUND: Converging evidence points to impairments of the predictive function exerted by the cerebellum as one of the causes of th …
Cognitive outcome in children with rhombencephalosynapsis.
Poretti A, Alber FD, Bürki S, Toelle SP, Boltshauser E. Poretti A, et al. Eur J Paediatr Neurol. 2009 Jan;13(1):28-33. doi: 10.1016/j.ejpn.2008.02.005. Epub 2008 Apr 14. Eur J Paediatr Neurol. 2009. PMID: 18407532
PURPOSE: Rhombencephalosynapsis is a rare congenital cerebellar malformation increasingly recognized by prenatal and neonatal neuroimaging. ...Other symptoms were muscular hypotonia, abnormal eye movements, and head stereotypies. Three patients had pathological s …
PURPOSE: Rhombencephalosynapsis is a rare congenital cerebellar malformation increasingly recognized by prenatal and neonatal …
24 results