| Clinical, radiological, and genetic similarities between patients with Chiari Type I and Type 0 malformations. | |
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MedLine Citation:
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PMID: 22462700 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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OBJECT: Although Chiari Type I (CM-I) and Type 0 (CM-0) malformations have been previously characterized clinically and radiologically, there have been no studies focusing on the possible genetic link between these disorders. The goal of this study was to identify families in whom CM-0 and CM-I co-occurred and to further assess the similarities between these disorders. METHODS: Families were ascertained through a proband with CM-I. Detailed family histories were obtained to identify first-degree relatives diagnosed with CM-0. Several criteria were used to exclude individuals with acquired forms of CM-I and/or syringomyelia. Individuals were excluded with syndromic, traumatic, infectious, or tumor-related syringomyelia, as well as CM-I due to a supratentorial mass, hydrocephalus, history of cervical or cranial surgery unrelated to CM-I, or development of symptoms following placement of a lumbar shunt. Medical records and MR images were used to characterize CM-I and CM-0 individuals clinically and radiologically. RESULTS: Five families were identified in which the CM-I proband had a first-degree relative with CM-0. Further assessment of affected individuals showed similar clinical and radiological features between CM-0 and CM-I individuals, although CM-I patients in general had more severe symptoms and skull base abnormalities than their CM-0 relatives. Overall, both groups showed improvement in symptoms and/or syrinx size following craniocervical decompression surgery. CONCLUSIONS: There is accumulating evidence suggesting that CM-0 and CM-I may be caused by a common underlying developmental mechanism. The data in this study are consistent with this hypothesis, showing similar clinical and radiological features between CM-0 and CM-I individuals, as well as the occurrence of both disorders within families. Familial clustering of CM-0 and CM-I suggests that these disorders may share an underlying genetic basis, although additional epigenetic and/or environmental factors are likely to play an important role in the development of CM-0 versus CM-I. |
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Authors:
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Christina A Markunas; R Shane Tubbs; Roham Moftakhar; Allison E Ashley-Koch; Simon G Gregory; W Jerry Oakes; Marcy C Speer; Bermans J Iskandar |
Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Journal of neurosurgery. Pediatrics Volume: 9 ISSN: 1933-0715 ISO Abbreviation: J Neurosurg Pediatr Publication Date: 2012 Apr |
Date Detail:
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Created Date: 2012-04-02 Completed Date: 2012-05-16 Revised Date: 2013-04-23 |
Medline Journal Info:
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Nlm Unique ID: 101463759 Medline TA: J Neurosurg Pediatr Country: United States |
Other Details:
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Languages: eng Pagination: 372-8 Citation Subset: IM |
Affiliation:
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Center for Human Genetics, Duke University Medical Center, Durham, NC, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Arnold-Chiari Malformation
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diagnosis*,
genetics*,
physiopathology,
radiography,
surgery Child Cluster Analysis Diagnosis, Differential Encephalocele / diagnosis Female Humans Magnetic Resonance Imaging Male Pedigree Syringomyelia / diagnosis*, genetics*, physiopathology, radiography, surgery |
| Grant Support | |
ID/Acronym/Agency:
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NS063273/NS/NINDS NIH HHS; R01 NS063273/NS/NINDS NIH HHS; R01 NS063273-03/NS/NINDS NIH HHS; R01 NS063273-04/NS/NINDS NIH HHS |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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