Genetic counseling in Huntington's disease: Potential new challenges on horizon?

Simone Migliore, Joseph Jankovic, Ferdinando Squitieri

Research output: Contribution to journalReview article

1 Citation (Scopus)

Abstract

Huntington's disease (HD) is a rare, hereditary, neurodegenerative and dominantly transmitted disorder affecting about 10 out of 100,000 people in Western Countries. The genetic cause is a CAG repeat expansion in the huntingtin gene (HTT), which is unstable and may further increase its length in subsequent generations, so called anticipation. Mutation repeat length coupled with other gene modifiers and environmental factors contribute to the age at onset in the offspring. Considering the unpredictability of age at onset and of clinical prognosis in HD, the accurate interpretation, a proper psychological support and a scientifically sound and compassionate communication of the genetic test result are crucial in the context of Good Clinical Practice and when considering further potential disease-modifying therapies. We discuss various genetic test scenarios that require a particularly careful attention in psychological and genetic counseling and expect that the counseling procedures will require a constant update.

Original languageEnglish
Article number453
JournalFrontiers in Neurology
Volume10
Issue numberAPR
DOIs
Publication statusPublished - Jan 1 2019

Fingerprint

Huntington Disease
Genetic Counseling
Age of Onset
Modifier Genes
Psychology
Counseling
Communication
Mutation
Genes
Therapeutics

Keywords

  • Genetic counseling
  • Huntington disease
  • Intermediate alleles
  • Neurodegenerative disease
  • Pediatric HD

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

Genetic counseling in Huntington's disease : Potential new challenges on horizon? / Migliore, Simone; Jankovic, Joseph; Squitieri, Ferdinando.

In: Frontiers in Neurology, Vol. 10, No. APR, 453, 01.01.2019.

Research output: Contribution to journalReview article

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