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

Racis, Loretta and Tessa, Alessandra and Pugliatti, Maura and Storti, Eugenia and Agnetti, Virgilio and Santorelli, Filippo M. (2014) Infantile-onset ascending hereditary spastic paralysis: a case report and brief literature review. European Journal of Paediatric Neurology, Vol. 18 (2), p. 235-239. ISSN 1090-3798. eISSN 1532-2130. Article.

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DOI: 10.1016/j.ejpn.2013.09.009

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.

Item Type:Article
ID Code:9810
Status:Published
Refereed:Yes
Uncontrolled Keywords:Infantile-onset ascending spastic paralysis, ALS2, Alsin, mutation
Subjects:Area 06 - Scienze mediche > MED/26 Neurologia
Divisions:001 Università di Sassari > 01-a Nuovi Dipartimenti dal 2012 > Medicina Clinica e Sperimentale
Publisher:Elsevier
ISSN:1090-3798
eISSN:1532-2130
Copyright Holders:© 2013 European Pediatric Neurology Society published by Elsevier
Deposited On:20 May 2014 09:01

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