A review of quality of life after predictive testing for and earlier identification of neurodegenerative diseases

JS Paulsen, M Nance, JI Kim, NE Carlozzi… - Progress in …, 2013 - Elsevier
The past decade has witnessed an explosion of evidence suggesting that many
neurodegenerative diseases can be detected years, if not decades, earlier than previously …

Genetic counseling and testing for Huntington's disease: A historical review

MA Nance - American Journal of Medical Genetics Part B …, 2017 - Wiley Online Library
This manuscript describes the ways in which genetic counseling has evolved since John
Pearson and Sheldon Reed first promoted “a genetic education” in the 1950s as a voluntary …

Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington …

A Krause, C Mitchell, F Essop, S Tager… - American Journal of …, 2015 - Wiley Online Library
Huntington disease (HD) is a progressive autosomal dominant neurodegenerative disorder,
characterized by abnormal movements, cognitive decline, and psychiatric symptoms …

[HTML][HTML] Huntington disease in the South African population occurs on diverse and ethnically distinct genetic haplotypes

FK Baine, C Kay, ME Ketelaar, JA Collins… - European Journal of …, 2013 - nature.com
Huntington disease (HD) is a neurodegenerative disorder resulting from the expansion of a
CAG trinucleotide repeat in the huntingtin (HTT) gene. Worldwide prevalence varies …

The spectrum of caregiving in palliative care for serious, advanced, rare diseases: key issues and research directions

LS Adams, JL Miller, PA Grady - Journal of palliative medicine, 2016 - liebertpub.com
Rare diseases are often life-limiting conditions, the majority of which require constant
caregiving needs. The realization of a spectrum of palliative care throughout the trajectory of …

Huntington disease: who seeks presymptomatic genetic testing, why and what are the outcomes?

TM Scuffham, JC MacMillan - Journal of genetic counseling, 2014 - Springer
The aims of this study were to: 1) quantify the characteristics of those seeking
presymptomatic testing for HD, 2) identify their motivations for testing, 3) quantify the waiting …

Decision-making about prenatal genetic testing among pregnant Korean-American women

M Jun, V Thongpriwan, J Choi, KS Choi, G Anderson - Midwifery, 2018 - Elsevier
Objective to understand the prenatal genetic testing decision-making processes among
pregnant Korean-American women. Design a qualitative, descriptive research design …

Genetic testing for Huntington disease

KA Quaid - Handbook of Clinical Neurology, 2017 - Elsevier
Abstract In 1983, Huntington disease (HD) became the first disease to be mapped to a
previously unknown location on chromosome 4. This discovery meant that we could now …

Factors related to genetic testing in adults at risk for Huntington disease: the prospective Huntington at‐risk observational study (PHAROS)

KA Quaid, SW Eberly, E Kayson‐Rubin… - Clinical …, 2017 - Wiley Online Library
Huntington disease (HD) is a late onset ultimately fatal neurodegenerative disorder caused
by a cytosine–adenine–guanine (CAG) triplet repeat expansion in the Huntingtin gene …

The uptake and outcome of prenatal and pre‐implantation genetic diagnosis for Huntington's disease in the Netherlands (1998–2008)

MC Van Rij, PAM de Koning Gans… - Clinical …, 2014 - Wiley Online Library
We aimed to study reproductive behaviour of couples opting for prenatal diagnosis (PND)
and pre‐implantation genetic diagnosis (PGD) for Huntington's disease (HD). In the …