Spastic ataxia

Definition:

Spastic ataxia (SPAX) is a heterogeneous group of progressive neurodegenerative disorders, characterized by lower-limb spasticity and generalized ataxia with dysarthria, impaired ocular movements, and gait disturbance. Mostly, mutations in the mitochondrial factors cause this disease.

References:

[1]. Andrew H Crosby, et al. Defective mitochondrial mRNA maturation is associated with spastic ataxia. Am J Hum Genet. 2010 Nov 12;87(5):655-60. [Content Brief]

[2]. Cynthia V Bourassa, et al. VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families. Am J Hum Genet. 2012 Sep 7;91(3):548-52. [Content Brief]

[3]. I A Meijer, et al. A locus for autosomal dominant hereditary spastic ataxia, SAX1, maps to chromosome 12p13. Am J Hum Genet. 2002 Mar;70(3):763-9. [Content Brief]

[4]. I Thiffault, et al. A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34. Brain. 2006 Sep;129(Pt 9):2332-40. [Content Brief]

[5]. Natalia Mendoza-Ferreira, et al. Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function. Neurol Genet. 2018 Jan 19;4(1):e209. [Content Brief]

[6]. Talya Dor, et al. KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction. J Med Genet. 2014 Feb;51(2):137-42. [Content Brief]

[7]. Tyler Mark Pierson, et al. Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases. PLoS Genet. 2011 Oct;7(10):e1002325. [Content Brief]

[8]. Vafa Bayat, et al. Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans. PLoS Biol. 2012;10(3):e1001288. [Content Brief]

[9]. Viorica Chelban, et al. Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination. Am J Hum Genet. 2017 Jun 1;100(6):969-977. [Content Brief]

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