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 language | English |
|---|---|
| Article number | 453 |
| Journal | Frontiers in Neurology |
| Volume | 10 |
| Issue number | APR |
| DOIs | |
| Publication status | Published - Jan 1 2019 |
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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 journal › Review article
}
TY - JOUR
T1 - Genetic counseling in Huntington's disease
T2 - Potential new challenges on horizon?
AU - Migliore, Simone
AU - Jankovic, Joseph
AU - Squitieri, Ferdinando
PY - 2019/1/1
Y1 - 2019/1/1
N2 - 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.
AB - 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.
KW - Genetic counseling
KW - Huntington disease
KW - Intermediate alleles
KW - Neurodegenerative disease
KW - Pediatric HD
UR - http://www.scopus.com/inward/record.url?scp=85065736484&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85065736484&partnerID=8YFLogxK
U2 - 10.3389/fneur.2019.00453
DO - 10.3389/fneur.2019.00453
M3 - Review article
AN - SCOPUS:85065736484
VL - 10
JO - Frontiers in Neurology
JF - Frontiers in Neurology
SN - 1664-2295
IS - APR
M1 - 453
ER -