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ARSAL

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Classification according to ICD-10
G11.4 Hereditary spastic paraplegia
ICD-10 online (WHO version 2019)

ARSAL, acronym for Autosomal Recessive Spastic Ataxia with Leukoencephalopathy, is a very rare congenital disorder with the main features that give it its name.[1]

Synonyms are: Ataxia, spastic, autosomal recessive, type 3 ; SPAX3

The initial description dates from 2006 by Canadian human geneticists I. Thiffault, M. F. Rioux and co-workers.[2]

Distribution

The incidence is reported to be less than 1 in 1,000,000, and inheritance is autosomal recessive.[1]

Cause

The disease underlies mutations in the MARS2 gene on chromosome 2 gene locus q33.1, which encodes mitochondrial methionyl-tRNA synthetase.[3]

Clinical manifestations

Clinical criteria are:[2]

  • Spastic ataxia
  • Changes in the white matter

Literature

  • V. Bayat, I. Thiffault, M. Jaiswal, M. Tétreault, T. Donti, F. Sasarman, G. Bernard, J. Demers-Lamarche, M. J. Dicaire, J. Mathieu, M. Vanasse, J. P. Bouchard, M. F. Rioux, C. M. Lourenco, Z. Li, C. Haueter, E. A. Shoubridge, B. H. Graham, B. Brais, H. J. Bellen: Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans. In: PLoS biology. Volume 10, Number 3, 2012, pp. e1001288, doi :10.1371/journal.pbio.1001288, PMID 22448145, PMC 3308940 (free full text).

Individual references

  1. a b Autosomal recessive spastic ataxia with leukoencephalopathy. In: Orphanet (database for rare diseases).
  2. a b I. Thiffault, M. F. Rioux, M. Tetreault, J. Jarry, L. Loiselle, J. Poirier, F. Gros-Louis, J. Mathieu, M. Vanasse, G. A. Rouleau, J. P. Bouchard, J. Lesage, B. Brais: A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34. In: Brain : a journal of neurology. Vol 129, Pt 9September 2006, pp 2332-2340, doi :10.1093/brain/awl110, PMID 16672289.
  3. Spastic ataxia 3, autosomal recessive.In: Online Mendelian Inheritance in Man. (English)

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