Document Detail

Infantile onset of hereditary spastic paraplegia poorly predicts the genotype.
MedLine Citation:
PMID:  17560499     Owner:  NLM     Status:  MEDLINE    
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.
Marcia A Blair; Megan E Riddle; Jennifer F Wells; Brian A Breviu; Peter Hedera
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Pediatric neurology     Volume:  36     ISSN:  0887-8994     ISO Abbreviation:  Pediatr. Neurol.     Publication Date:  2007 Jun 
Date Detail:
Created Date:  2007-06-11     Completed Date:  2007-08-27     Revised Date:  2007-12-03    
Medline Journal Info:
Nlm Unique ID:  8508183     Medline TA:  Pediatr Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  382-6     Citation Subset:  IM    
Department of Neurology; Vanderbilt University, Nashville, TN 37232-8552, USA.
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MeSH Terms
Adenosine Triphosphatases / genetics*
Age of Onset
Cerebral Palsy / diagnosis
Child, Preschool
Diagnosis, Differential
Linkage (Genetics)*
Middle Aged
Point Mutation*
Predictive Value of Tests
Spastic Paraplegia, Hereditary / diagnosis*,  genetics*
Grant Support
Reg. No./Substance:
EC 3.6.1.-/Adenosine Triphosphatases; EC 3.6.1.-/SPAST protein, human

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