Document Detail

Infantile-onset ascending hereditary spastic paralysis: A case report and brief literature review.
MedLine Citation:
PMID:  24144828     Owner:  NLM     Status:  Publisher    
BACKGROUND: Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a rare, early-onset autosomal recessive motor neuron disease associated with mutations in ALS2.
AIM: We studied a 17-year-old boy who had features of IAHSP. We also reviewed the current literature on ALS2-related syndromes.
METHODS: Clinical and neuroimaging studies were performed. Blood DNA analyses were combined with mRNA studies in cultured skin fibroblasts.
RESULTS: Like previously described cases, the patient presented with severe spastic paraparesis and showed rapid progression of paresis to the upper limbs. He also developed bulbar involvement and severe scoliosis during childhood. In blood DNA we identified a novel splice-site homozygous mutation in ALS2 (c.3836+1G > T), producing exon skipping in fibroblast mRNA and predicting premature protein truncation.
CONCLUSIONS: This case adds to the allelic heterogeneity of IAHSP. Review of the pertinent literature indicates a fairly homogeneous clinical picture in IAHSP that should facilitate molecular confirmation and prevention of long-term complications.
Loretta Racis; Alessandra Tessa; Maura Pugliatti; Eugenia Storti; Virgilio Agnetti; Filippo M Santorelli
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-10-9
Journal Detail:
Title:  European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society     Volume:  -     ISSN:  1532-2130     ISO Abbreviation:  Eur. J. Paediatr. Neurol.     Publication Date:  2013 Oct 
Date Detail:
Created Date:  2013-10-22     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9715169     Medline TA:  Eur J Paediatr Neurol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2013 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
Department of Clinical and Experimental Medicine, Sassari, Italy; Department of Biomedical Sciences, University of Sassari, Sassari, Italy.
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