Link between HSP, PLS and ALS

Posted - December 2014 in Research Highlights

ALS2 gene mutations in common

 

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 (motor neurone disease).

An analysis of studies of 42 reported cases of mutations in the ALS2 gene show that there can be overlap of symptoms found in the 3 conditions in individual cases.

 

Abstract

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.G477Afs*19) 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.

 

SOURCE: Case Rep Genet. 2014;2014:691515. doi: 10.1155/2014/691515. Epub 2014 Sep 14. PMID: 25302125 [PubMed] PMCID: PMC4180207

Alsin related disorders: literature review and case study with novel mutations.

Flor-de-Lima F1, Sampaio M2, Nahavandi N3, Fernandes S4, Leão M5.

1 Department of Pediatrics, Hospital Pediátrico Integrado, Centro Hospitalar de São João, Alameda Prof. Hernâni Monteiro, 4200-319 Porto, Portugal ; Faculty of Medicine, University of Porto, Alameda Prof. Hernâni Monteiro, 4200-319 Porto, Portugal.

2 Unit of Pediatric Neurology, Hospital Pediátrico Integrado, Centro Hospitalar de São João, Alameda Prof. Hernâni Monteiro, 4200-319 Porto, Portugal.

3 Centogene AG, Schillingallee 68, 18057 Rostock, Germany.

4 Department of Genetics, Faculty of Medicine, University of Porto, Alameda Prof. Hernâni Monteiro, 4200-319 Porto, Portugal.

5 Unit of Pediatric Neurology, Hospital Pediátrico Integrado, Centro Hospitalar de São João, Alameda Prof. Hernâni Monteiro, 4200-319 Porto, Portugal ; Department of Genetics, Faculty of Medicine, University of Porto, Alameda Prof. Hernâni Monteiro, 4200-319 Porto, Portugal.

 

 

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