Letter to the Editor March 7, 2023

State of the Art of Diagnostics and Genetics in Huntington’s Chorea: Response to Dr Lange

Mayank Gupta, MD; Christoph U. Correll, MD

Prim Care Companion CNS Disord 2023;25(2):23lr03487a

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  1. Yeo K, Gupta M, Correll CU. Huntington’s disease with psychotic features. Prim Care Companion CNS Disord. 2021;23(4):35631. PubMed CrossRef
  2. Davenport CB. Huntington’s chorea in relation to heredity and eugenics. Proc Natl Acad Sci U S A. 1915;1(5):283–285. PubMed CrossRef
  3. Pringsheim T, Wiltshire K, Day L, et al. The incidence and prevalence of Huntington’s disease: a systematic review and meta-analysis. Mov Disord. 2012;27(9):1083–1091. PubMed CrossRef
  4. 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;84(6):650–656. PubMed CrossRef
  5. Mariani LL, Tesson C, Charles P, et al. Expanding the spectrum of genes involved in Huntington disease using a combined clinical and genetic approach. JAMA Neurol. 2016;73(9):1105–1114. PubMed CrossRef
  6. Thorley EM, Iyer RG, Wicks P, et al. Understanding how chorea affects health-related quality of life in Huntington disease: an online survey of patients and caregivers in the United States. Patient. 2018;11(5):547–559. PubMed CrossRef
  7. Paulson HL, Albin RL. Huntington’s Disease: Clinical Features and Routes to Therapy. In: Lo DC, Hughes RE, eds. Neurobiology of Huntington’s Disease: Applications to Drug Discovery. Frontiers in Neuroscience. CRC Press/Taylor & Francis; 2011.
  8. Smith MA, Brandt J, Shadmehr R. Motor disorder in Huntington’s disease begins as a dysfunction in error feedback control. Nature. 2000;403(6769):544–549. PubMed CrossRef
  9. Squitieri F, Berardelli A, Nargi E, et al. Atypical movement disorders in the early stages of Huntington’s disease: clinical and genetic analysis. Clin Genet. 2000;58(1):50–56. PubMed CrossRef
  10. McCusker EA, Gunn DG, Epping EA, et al; PREDICT-HD Investigators of the Huntington Study Group. Unawareness of motor phenoconversion in Huntington disease. Neurology. 2013;81(13):1141–1147. PubMed CrossRef
  11. Andrews SC, Craufurd D, Durr A, et al. Executive impairment is associated with unawareness of neuropsychiatric symptoms in premanifest and early Huntington’s disease. Neuropsychology. 2018;32(8):958–965. PubMed CrossRef
  12. Kremer B, Goldberg P, Andrew SE, et al. A worldwide study of the Huntington’s disease mutation: the sensitivity and specificity of measuring CAG repeats. N Engl J Med. 1994;330(20):1401–1406. PubMed CrossRef
  13. Nance M, Paulsen JS, Rosenblatt A, et al. A Physician’s Guide to the Management of Huntington’s Disease. 3rd ed. | Huntington’s Disease Society of America; 2011.
  14. Ha AD, Beck CA, Jankovic J. Intermediate CAG repeats in Huntington’s disease: analysis of COHORT. Tremor Other Hyperkinet Mov (N Y). 2012;2(0):tre-02-64-287-4. PubMed CrossRef
  15. Savitt D, Jankovic J. Clinical phenotype in carriers of intermediate alleles in the huntingtin gene. J Neurol Sci. 2019;402:57–61. PubMed CrossRef
  16. Cubo E, Ramos-Arroyo MA, Martinez-Horta S, et al; European HD Network. Clinical manifestations of intermediate allele carriers in Huntington disease. Neurology. 2016;87(6):571–578. PubMed CrossRef
  17. Dale M, Wood A, Zarotti N, et al. Using a clinical formulation to understand psychological distress in people affected by Huntington’s disease: a descriptive, evidence-based model. J Pers Med. 2022;12(8):1222. PubMed CrossRef
  18. Zühlke C, Riess O, Bockel B, et al. Mitotic stability and meiotic variability of the (CAG)n repeat in the Huntington disease gene. Hum Mol Genet. 1993;2(12):2063–2067. PubMed CrossRef
  19. Kerschbamer E, Biagioli M. Huntington’s Disease as neurodevelopmental disorder: altered chromatin regulation, coding, and non-coding RNA transcription. Front Neurosci. 2016;9:509. PubMed CrossRef
  20. Dandelot E, Tomé S. Genetic Modifiers of CAG.CTG Repeat Instability in Huntington’s Disease Mouse Models. IntechOpen; 2017.
  21. Wheeler VC, Persichetti F, McNeil SM, et al; US-Venezuela Collaborative Research Group. Factors associated with HD CAG repeat instability in Huntington disease. J Med Genet. 2007;44(11):695–701. PubMed CrossRef
  22. Laccone F, Christian W. A recurrent expansion of a maternal allele with 36 CAG repeats causes Huntington disease in two sisters. Am J Hum Genet. 2000;66(3):1145–1148. PubMed CrossRef