Chorea and Huntington-like disorders panel [19 genes]
Although Huntington’s disease is the most common form of chorea, it is estimated that 1% to 7% of suspected cases have a negative HTT triplet repeat expansion study (Martino et al., 2012), and other differential diagnoses must be considered. In addition to other non-genetic conditions (infectious, immune, toxic, or vascular), there are several phenocopies of Huntington’s chorea that must be taken into account.
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.
- ATP7B: Wilson’s disease
- CP: Aceruloplasminemia
- HPRT1: Lesch-Nyhan syndrome
- NKX2-1: Benign hereditary chorea
- NUP62, PDE8B, VAC14: Striatonigral degeneration
- PANK2, PLA2G6, C19orf12, FTL: NBIAS
- PRNP: Prion diseases
- SLC20A2, PDGFRB: Basal ganglia calcification
- VPS13A, XK: Neuroacanthocytosis and McLeod syndrome
- Martino D, Stamelou M, Bhatia KP. The differential diagnosis of Huntington’s disease-like syndromes: ‘red flags’ for the clinician. J Neurol Neurosurg Psychiatry. 2013 Jun;84(6):650-6.