title: Infantile-onset ascending hereditary spastic paralysis: a case report and brief literature review.
abstract: BACKGROUND
  Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a rare, early-onset autosomal recessive motor neuron disease associated with mutations in ALS2.
  
  
  OBJECTIVE
  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.
authors.affiliation: Department of Clinical and Experimental Medicine, Sassari, Italy; Department of Biomedical Sciences, University of Sassari, Sassari, Italy.
authors.forename: Loretta
authors.initials: L
authors.lastname: Racis
authors.affiliation: IRCCS Stella Maris, Pisa, Italy.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Tessa
authors.affiliation: Department of Clinical and Experimental Medicine, Sassari, Italy.
authors.forename: Maura
authors.initials: M
authors.lastname: Pugliatti
authors.affiliation: IRCCS Stella Maris, Pisa, Italy.
authors.forename: Eugenia
authors.initials: E
authors.lastname: Storti
authors.affiliation: Department of Clinical and Experimental Medicine, Sassari, Italy.
authors.forename: Virgilio
authors.initials: V
authors.lastname: Agnetti
authors.affiliation: IRCCS Stella Maris, Pisa, Italy. Electronic address: filippo3364@gmail.com.
authors.forename: Filippo M
authors.initials: FM
authors.lastname: Santorelli
mesh_terms: D000293:Adolescent; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology*
chemical_list: C438187:ALS2 protein, human; D020662:Guanine Nucleotide Exchange Factors
keywords: ALS2; Alsin; Infantile-onset ascending spastic paralysis; Mutation