Kennedy’s disease. CAG expansions in the AR gene [1 gene]

  • Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with a prevalence of 5.4/100,000 (Chiò et al., 2013). Even though most cases are sporadic, previous family history exists in 10% of patients. Pathogenic variants in the C9orf72, SOD1, TARDBP, and FUS genes explain almost two-thirds of the familial forms (25%, 20%, 5%, and 5%, respectively). In the C9orf72 gene, a single genetic alteration associated with amyotrophic lateral sclerosis (ALS) and/or frontotemporal dementia has been detected, consisting of a (GGGGCC)n repeat expansion not detectable by NGS.
  • Primary lateral sclerosis (PLS) is characterized by an isolated involvement of upper motor neurons, which distinguishes it from amyotrophic lateral sclerosis where lower motor neurons are also compromised. The diagnosis of PLS is made by excluding disease causes such as spastic paraplegia, multiple sclerosis, metabolic disease, or myelopathy.

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Kennedy's disease. CAG expansions in the AR gene

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Technique: Fragment Analysis

Turnaround time (TAT): 20 days

Ref. S-202008725

Kennedy’s disease. CAG expansions in the AR gene: View panel
  • AR

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. Chiò A, Logroscino G, Traynor BJ, Collins J, Simeone JC, Goldstein LA, White LA. Global epidemiology of amyotrophic lateral sclerosis: a systematic review of the published literature. Neuroepidemiology. 2013;41(2):118-30.