Chorea and Huntington-like disorders [20 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), several phenocopies of Huntington’s chorea must be taken into account.

  • 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

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Chorea and Huntington-like disorders

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Technique: Exome

Turnaround time (TAT): 25 days

Ref. S-201805729

Chorea and Huntington-like disorders: View panel
  • ATP7B
  • C19orf12
  • CP
  • DCAF17
  • FTL
  • HPRT1
  • NKX2-1
  • NUP62
  • PANK2
  • PDE10A
  • PDE8B
  • PDGFRB
  • PLA2G6
  • PRNP
  • RNF216
  • SLC20A2
  • VAC14
  • VPS13A
  • XK
  • ADCY5

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.

Related panels
Movement disorders [163 genes]

References

  • 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.

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