| White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1. | |
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MedLine Citation:
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PMID: 19187859 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Hereditary spastic paraplegias (HSPs) are relatively frequent disorders presenting great genetic heterogeneity. The recent identification of mutations in SPG5/CYP7B1 in six autosomal recessive kindred linked to the SPG5 locus on chromosome 8q prompted us to test the relative frequency of SPG5/CYP7B1 variants in 12 families and in sporadic HSP patients by high-resolution melting screening combined with direct sequencing. We present two patients who harbored three mutations (including two novel variants) in SPG5/CYP7B1 and white matter involvement evidenced at brain MRI. In HSP patients in whom no other genes were mutated, screening of SPG5/CYP7B1 seems to have a low diagnostic yield in autosomal recessive (8%) and sporadic (<1%) cases, even in those with complicated clinical features. |
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Authors:
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Roberta Biancheri; Marianna Ciccolella; Andrea Rossi; Alessandra Tessa; Denise Cassandrini; Carlo Minetti; Filippo M Santorelli |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Neuromuscular disorders : NMD Volume: 19 ISSN: 0960-8966 ISO Abbreviation: Neuromuscul. Disord. Publication Date: 2009 Jan |
Date Detail:
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Created Date: 2009-02-03 Completed Date: 2009-05-20 Revised Date: 2011-11-24 |
Medline Journal Info:
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Nlm Unique ID: 9111470 Medline TA: Neuromuscul Disord Country: England |
Other Details:
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Languages: eng Pagination: 62-5 Citation Subset: IM |
Affiliation:
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IRCCS G. Gaslini Pediatric Institute and University of Genoa, Unit of Muscular and Neurodegenerative Diseases, IRCCS Bambino Gesù Children's Hospital, Piazza S. Onofrio 4, 00165 Rome, Italy. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Brain / metabolism, pathology*, physiopathology Child Child, Preschool Chromosomes, Human, Pair 8 / genetics DNA Mutational Analysis Female Genetic Predisposition to Disease / genetics Genetic Testing Humans Magnetic Resonance Imaging Male Mutation / genetics* Nerve Fibers, Myelinated / metabolism, pathology* Pedigree Predictive Value of Tests Spastic Paraplegia, Hereditary / genetics*, pathology*, physiopathology Steroid Hydroxylases / genetics* Young Adult |
| Grant Support | |
ID/Acronym/Agency:
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GGP06188//Telethon |
| Chemical | |
Reg. No./Substance:
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EC 1.14.-/Steroid Hydroxylases; EC 1.14.13.-/CYP7B1 protein, human |
| Comments/Corrections | |
Comment In:
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Neuromuscul Disord. 2009 Jul;19(7):507; author reply 507-8
[PMID:
19556130
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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