Huntington’s disease HD: differential diagnosis

Evidence-based neurology checklist on huntington’s disease hd: differential diagnosis: Huntington’s disease-like 1 (HDL1) This is caused by a prion protein gene mutation It presents with personality change in early to mid-childhood It may also manifest with chorea, myoclonus, and seizures…

Huntington’s disease-like 1 (HDL1)

  • This is caused by a prion protein gene mutation
  • It presents with personality change in early to mid-childhood
  • It may also manifest with chorea, myoclonus, and seizures

Huntington’s disease-like 2 (HDL2)

Huntington’s disease-like 3 (HDL3)

Huntington’s disease-like 4 (HDL4, SCA17)

Spinocerebellar ataxia (SCA)

Parkinson’s disease (PD)

Other neurodegenerative causes of chorea

Other causes of HD phenotype

Other causes of chorea

References

  1. Schneider SA, Walker RH, Bhatia KP. The Huntington's disease-like syndromes: what to consider in patients with a negative Huntington's disease gene test. Nat Clin Pract Neurol 2007; 3:517-525.
  2. Martino D, Stamelou M, Bhatia K. The differential diagnosis of Huntington's disease-like syndromes: 'red flags' for the clinician. JNNP 2013; 84:650-656.
  3. Schneider S, Bird T. Huntington's disease, Huntington's disease look-alikes‎, and benign hereditary chorea: what's new? Mov Disord Clin Pract 2016; doi: 10.1002/mdc3.12312 (Epub ahead of issue).
  4. Walker RH. Update on the non-Huntington's disease choreas with comments on the current nomenclature. Tremor Other Hyperkinet Mov (N Y) 2012; 2. pii: tre-02-49-211-1.
  5. Anderson DG, Haagensen M, Ferreira-Correia A, et al. Emerging differences between Huntington's disease-like 2 and Huntington's disease: a comparison using MRI brain volumetry. Neuroimage Clin 2019; 21:101666. 
  6. And 8 more. Subscribe to see the full list

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