| Infantile onset of hereditary spastic paraplegia poorly predicts the genotype. | |
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MedLine Citation:
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PMID: 17560499 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Age of symptom onset of hereditary spastic paraplegia varies from infancy to the eighth decade. Infantile onset of hereditary spastic paraplegia without a positive family history may cause difficulties in reaching the correct diagnosis and misdiagnosis as a diplegic form of cerebral palsy is particularly common. Infantile onset of hereditary spastic paraplegia caused by mutations in the spastin gene (SPAST) is very rare and previously was mostly associated with codominant mutations in this gene. We present a kindred with infantile onset of spastic paraplegia in three successive generations caused by confirmed de novo novel mutation 1537G>A (G471D) in SPAST. Several family members were previously diagnosed as having cerebral palsy. Infantile onset of hereditary spastic paraplegia may be caused by mutations in multiple genes, and this phenotype does not reliably predict the genotype. Pediatric neurologists need to be aware of relatively frequent de novo mutations in hereditary spastic paraplegia genes and a possibility that this condition presents in infancy without a positive family history. |
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Authors:
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Marcia A Blair; Megan E Riddle; Jennifer F Wells; Brian A Breviu; Peter Hedera |
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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: Pediatric neurology Volume: 36 ISSN: 0887-8994 ISO Abbreviation: Pediatr. Neurol. Publication Date: 2007 Jun |
Date Detail:
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Created Date: 2007-06-11 Completed Date: 2007-08-27 Revised Date: 2007-12-03 |
Medline Journal Info:
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Nlm Unique ID: 8508183 Medline TA: Pediatr Neurol Country: United States |
Other Details:
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Languages: eng Pagination: 382-6 Citation Subset: IM |
Affiliation:
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Department of Neurology; Vanderbilt University, Nashville, TN 37232-8552, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adenosine Triphosphatases
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genetics* Adult Age of Onset Aged Cerebral Palsy / diagnosis Child Child, Preschool Diagnosis, Differential Family Female Genotype Humans Linkage (Genetics)* Male Middle Aged Pedigree Point Mutation* Predictive Value of Tests Spastic Paraplegia, Hereditary / diagnosis*, genetics* |
| Grant Support | |
ID/Acronym/Agency:
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K08 NS42743/NS/NINDS NIH HHS |
| Chemical | |
Reg. No./Substance:
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EC 3.6.1.-/Adenosine Triphosphatases; EC 3.6.1.-/SPAST protein, human |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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