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Case Reports in Genetics
Volume 2014, Article ID 691515, 5 pages
http://dx.doi.org/10.1155/2014/691515
Case Report

Alsin Related Disorders: Literature Review and Case Study with Novel Mutations

1Department of Pediatrics, Hospital Pediátrico Integrado, Centro Hospitalar de São João, Alameda Prof. Hernâni Monteiro, 4200-319 Porto, Portugal
2Faculty of Medicine, University of Porto, Alameda Prof. Hernâni Monteiro, 4200-319 Porto, Portugal
3Unit of Pediatric Neurology, Hospital Pediátrico Integrado, Centro Hospitalar de São João, Alameda Prof. Hernâni Monteiro, 4200-319 Porto, Portugal
4Centogene AG, Schillingallee 68, 18057 Rostock, Germany
5Department of Genetics, Faculty of Medicine, University of Porto, Alameda Prof. Hernâni Monteiro, 4200-319 Porto, Portugal

Received 31 May 2014; Revised 20 August 2014; Accepted 1 September 2014; Published 14 September 2014

Academic Editor: Patrick Morrison

Copyright © 2014 Filipa Flor-de-Lima et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Mutations in the ALS2 gene cause three distinct disorders: infantile ascending hereditary spastic paraplegia, juvenile primary lateral sclerosis, and autosomal recessive juvenile amyotrophic lateral sclerosis. We present a review of the literature and the case of a 16-year-old boy who is, to the best of our knowledge, the first Portuguese case with infantile ascending hereditary spastic paraplegia. Clinical investigations included sequencing analysis of the ALS2 gene, which revealed a heterozygous mutation in exon 5 (c.1425_1428del p.G477Af19) and a heterozygous and previously unreported variant in exon 3 (c.145G>A p.G49R). We also examined 42 reported cases on the clinical characteristics and neurophysiological and imaging studies of patients with known ALS2 gene mutations sourced from PubMed. This showed that an overlap of phenotypic manifestations can exist in patients with infantile ascending hereditary spastic paraplegia, juvenile primary lateral sclerosis, and juvenile amyotrophic lateral sclerosis.