Alsin Related Disorders: Literature Review and Case Study with Novel Mutations
Joint Authors
Sampaio, Mafalda
Nahavandi, Nahid
Fernandes, Susana
Leão, Miguel
Flor-de-Lima, Filipa
Source
Issue
Vol. 2014, Issue 2014 (31 Dec. 2014), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2014-09-14
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
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.G477Af s * 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.
American Psychological Association (APA)
Flor-de-Lima, Filipa& Sampaio, Mafalda& Nahavandi, Nahid& Fernandes, Susana& Leão, Miguel. 2014. Alsin Related Disorders: Literature Review and Case Study with Novel Mutations. Case Reports in Genetics،Vol. 2014, no. 2014, pp.1-5.
https://search.emarefa.net/detail/BIM-1034726
Modern Language Association (MLA)
Flor-de-Lima, Filipa…[et al.]. Alsin Related Disorders: Literature Review and Case Study with Novel Mutations. Case Reports in Genetics No. 2014 (2014), pp.1-5.
https://search.emarefa.net/detail/BIM-1034726
American Medical Association (AMA)
Flor-de-Lima, Filipa& Sampaio, Mafalda& Nahavandi, Nahid& Fernandes, Susana& Leão, Miguel. Alsin Related Disorders: Literature Review and Case Study with Novel Mutations. Case Reports in Genetics. 2014. Vol. 2014, no. 2014, pp.1-5.
https://search.emarefa.net/detail/BIM-1034726
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1034726