SCIENTIFIC BACKGROUND

ADCY5, ARSA, ATM, ATN1, ATXN1, ATXN2, ATXN3, ATXN7, FRRS1L, FTL, GM2A, GNAO1, KCNA1, NKX2-1, PDE10A, PRNP, RNF216, SETX, TBP, VPS13A, XK

Scientific background

In 90% of patients with a choreatic movement disorder of genetic origin, a pathogenic CAG triplet repeat expansion in the HTT gene can be detected. For the remaining 10% with no evidence of a pathological HTT-CAG triplet repeat expansion, a differential diagnosis of Huntington-like disorders, which are clinically difficult or impossible to differentiate, can be clarified by comprehensive gene panel testing. For some of the listed genes, the presence of a repeat expansion is clarified by PCR and subsequent capillary electrophoresis (fragment length analysis).

 

References

Mencacci et Carecchio 2016, Curr Opin Neurol 29:486 / Hensman Mosset et al. 2014, Neurology 82:292 / Nguyen 2013, MedGen 25:223 / Martino et al. 2013, J Neurol Neurosurg Psychiatry 84:650

GENES
ADCY5, ARSA, ATM, ATN1, ATXN1, ATXN2, ATXN3, ATXN7, FRRS1L, FTL, GM2A, GNAO1, KCNA1, NKX2-1, PDE10A, PRNP, RNF216, SETX, TBP, VPS13A, XK
ASSOCIATED TESTS
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