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Infantile-onset ascending hereditary spastic paralysis: a case report and brief literature review

Loretta Racis1, Alessandra Tessa2, Maura Pugliatti3

  • 1Department of Clinical and Experimental Medicine, Sassari, Italy; Department of Biomedical Sciences, University of Sassari, Sassari, Italy.

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|October 23, 2013
PubMed

Insights

Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a rare motor neuron disease. A novel mutation in the ALS2 gene was identified in a patient, expanding the known genetic causes of IAHSP.

Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Background:

  • Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a rare, early-onset autosomal recessive motor neuron disease.
  • Mutations in the ALS2 gene are associated with IAHSP.

Observation:

  • A 17-year-old male patient presented with features consistent with IAHSP.
  • The patient exhibited severe spastic paraparesis, rapid progression to upper limb paresis, bulbar involvement, and severe scoliosis.

Findings:

  • A novel splice-site homozygous mutation in the ALS2 gene (c.3836+1G > T) was identified.
  • This mutation resulted in exon skipping in fibroblast mRNA, predicting premature protein truncation.

Implications:

  • This case contributes to the understanding of allelic heterogeneity in IAHSP.
  • The findings facilitate molecular confirmation and prevention of complications in IAHSP patients.
Abstract

Keywords:
ALS2AlsinInfantile-onset ascending spastic paralysisMutation

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