| Normal cognitive functions in joubert syndrome. | |
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MedLine Citation:
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PMID: 20446224 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Developmental delay and subsequent impaired cognitive functions are present in almost all patients with Joubert syndrome (JS). We report on a 20-year-old woman with mild clinical signs of JS (minimal truncal ataxia and oculomotor apraxia) but typical molar tooth sign on neuroimaging, normal full scale (IQ=93), verbal (IQ=93), and performance intelligence quotient (IQ=94). Only minor difficulties in visual-spatial organization and in some executive functions could be detected. This pattern of deficits is partly reminiscent of the cerebellar cognitive affective syndrome. Her diagnosis was only reached following the diagnosis of JS in two brothers with severe cognitive impairment. Molecular investigations demonstrated a homozygous mutation in the INPP5E gene. This exceptional observation confirms that normal cognitive functions are possible in JS and corroborates the well known intrafamilial variability. |
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Authors:
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A Poretti; F Dietrich Alber; F Brancati; B Dallapiccola; E M Valente; E Boltshauser |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2010-05-05 |
Journal Detail:
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Title: Neuropediatrics Volume: 40 ISSN: 1439-1899 ISO Abbreviation: Neuropediatrics Publication Date: 2009 Dec |
Date Detail:
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Created Date: 2010-05-06 Completed Date: 2010-08-12 Revised Date: 2011-11-24 |
Medline Journal Info:
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Nlm Unique ID: 8101187 Medline TA: Neuropediatrics Country: Germany |
Other Details:
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Languages: eng Pagination: 287-90 Citation Subset: IM |
Copyright Information:
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Copyright Georg Thieme Verlag KG Stuttgart New York. |
Affiliation:
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Department of Pediatric Neurology, University Children's Hospital of Zurich, Switzerland. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Cerebellar Diseases / complications* Cognition Disorders / etiology* Developmental Disabilities / complications* Humans Magnetic Resonance Imaging / methods Movement Disorders / complications* Neuropsychological Tests |
| Grant Support | |
ID/Acronym/Agency:
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GGP08145//Telethon; //Canadian Institutes of Health Research |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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