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Dentatorubral-pallidoluysian atrophy (DRPLA). CAG expansions in the ATN1 gene [1 gene]
Spinocerebellar ataxia by expansion
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Dentatorubral-pallidoluysian atrophy (DRPLA). CAG expansions in the ATN1 gene
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Technique: Fragment Analysis
Turnaround time (TAT): 20 days
Ref. S-202008724
Dentatorubral-pallidoluysian atrophy (DRPLA). CAG expansions in the ATN1 gene: View panel
- ATN1
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
- 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.
- 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.
- 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.
