Boltshauser
Fakultäten » Medizinische Fakultät » Kinderspital Zürich: Medizinische Klinik » Neuropädiatrie, Abteilung » Prof. Dr. Eugen Boltshauser (emeritiert) » Boltshauser
Completed research project
| Title / Titel | Cerebellum and cognition | ||||
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| Abstract (PDF, 14 KB) | |||||
| Summary / Zusammenfassung | It is now well established that the cerebellum is involved in several non-motor tasks. There is now increasing evidence that this not only applies to adult acquired conditions but also to congenital and acquired paediatric disorders. This aspect is studied by using either congenital cerebellar non-progressive ataxias as well as testing in benign (non-radiated)cerebellar tumours. Patients with "cerebellar agenesis", rhombencephalosynapsis and selected cerebellar disruptions are being studied, including "one hemisphere hypoplasia" and "cerebellar cleft". Patients with residual changes following cerebellar hemorrhage due to an arterio-venous malformation were studied as well. It was documented that patients with Joubert syndrome may have normal cognitive functions - exceptionally ! Outcome studies in patients with a rare form of Joubert Syndrome and Related Disorders, oral-facial-digital syndrome type VI, are in progress. |
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| Publications / Publikationen | Steinlin M, Zangger B, Boltshauser E: Non-progressive congenital ataxia with or without cerebellar hypoplasia: a review of 34 subjects. Dev Med Child Neurol 1998;40:148-154Steinlin M, Styger M, Boltshauser E: Cognitive impairments in patients with congenital nonprogressive cerebellar ataxia.: Cognitive impairments in patients with congenital nonprogressive cerebellar ataxia. Neurology 1999;53:966-973Steinlin M, Imfeld S, Zulauf T, Boltshauser E, Loevblad K, Ridolfi-Luethi A, Perig W, Kaufmann F: Neuropsychological long-term sequelae after posterior fossa tumours resection during childhood. Brain 2003;126:1998-2008Zafeiriou DI,Vargiami E, Boltshauser E:Cerebellar agenesis and diabetes insipidus.Neuropediatrics 2004,35:364Poretti A, Alber FD, Bürki S, Toelle SP, Boltshauser E: Cognitive outcome in children with rhombencephalosynapsis. Eur J Paed Neurol 2009;13:28-33Poretti A, Limperopoulos C, Roulet-Perez E, Wolf NI, Rauscher C, Prayer D, Müller A, Weissert M, Kotzaeridou M, du Plessis AJ, Huisman TA, Boltshauser E: Outcome of severe unilateral cerebellar hypoplasia. Dev Med Child Neurol 2010;52:718-24, epub Oct 23,2009Poretti A, Alber FD, Brancati F, Dallapiccola B, Valente ME, Boltshauser E: Normal cognitive function in Joubert syndrome. Neuropediatrics 2009;40:287-90Poretti A, Huisman TA, Cowan FM, Del Giudice E, Jeannet PY, Prayer D, Rutherford MA, du Plessis AJ, Limperopoulos C, Boltshauser E: Cerebellar cleft: confirmation of the neuroimaging pattern. Neuropediatrics 2009;40:228-33Wingeier K, Bigi S, El-Koussy M, Heinks-Maldonado T, Boltshauser E, Steinlin M: Long-term sequelae after acquired pediatric hemorrhagic cerebellar lesions. Child's Nerv Syst 2011;27:923-31(epub 2010)Poretti A, Vitiello G, Hennekam RAM, Arrigoni F, Bertini E,......Valente EM, Boltshauser E: Delineation and diagnostic criteria of oral-facial-digital syndrome type VI. Orphanet J Rare Dis 2012,7:4 | ||||
| Keywords / Suchbegriffe | Cerebellum, cognition,cerebellar malformation,cerebellar disruption, cerebellar cleft, rhombencephalosynapsis, oral-facial-digital syndrome type VI | ||||
| Project leadership and contacts / Projektleitung und Kontakte |
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| Funding source(s) / Unterstützt durch |
Others No Funding. |
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| In collaboration with / In Zusammenarbeit mit |
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| Duration of Project / Projektdauer | Sep 1999 to Jan 2012 |