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.

Infantile-onset ascending hereditary spastic paralysis: a case report and brief literature review / Racis L; Tessa A; Pugliatti M; Storti E; Agnetti V; Santorelli FM.. - In: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY. - ISSN 1090-3798. - 18:2(2014), pp. 235-239. [10.1016/j.ejpn.2013.09.009]

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

RACIS, LORETTA;PUGLIATTI, Maura;AGNETTI, Virgilio;
2014

Abstract

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.
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11388/139633
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