Friedreich’s ataxia. GAA expansions in the FXN gene [1 gene]

Spinocerebellar ataxia by expansion

Friedreich’s ataxia is the most common hereditary ataxia in Caucasians, with an estimated incidence of 1/29,000 individuals and a carrier frequency of 1 in 85. Between 2-13% of cases of late-onset and sporadic ataxia are caused by nucleotide expansions detectable by specific PCR/TP-PCR study (Abele et al., 2002). Anticipation, consisting of a disease with an earlier onset and/or a more severe course in subsequent generations, is a characteristic phenomenon.

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Friedreich’s ataxia. GAA expansions in the FXN gene

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Technique: Fragment Analysis

Turnaround time (TAT): 20 days

Ref. S-201601805

Friedreich’s ataxia. GAA expansions in the FXN gene: View panel
  • FXN

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

References

  1. Abele M, Bürk K, Schöls L, Schwartz S, Besenthal I, Dichgans J, Zühlke C, Riess O, Klockgether T. The aetiology of sporadic adult-onset ataxia. Brain. 2002 May;125(5):961-8.
  2. Galatolo D, Tessa A, Filla A, Santorelli FM. Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: increasing the diagnostic yield and broadening the ataxia-spasticity spectrum. A retrospective analysis. Neurogenetics. 2018 Jan;19(1):1-8.
  3. Ruano L, Melo C, Silva MC, Coutinho P. The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. Neuroepidemiology. 2014;42(3):174-83.