scholarly journals Reduced penetrance alleles for Huntington's disease: a multi-centre direct observational study

2006 ◽  
Vol 44 (3) ◽  
pp. e68-e68 ◽  
Author(s):  
O. W J Quarrell ◽  
A. S Rigby ◽  
L Barron ◽  
Y Crow ◽  
A Dalton ◽  
...  
Keyword(s):  
Observational Study ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Reduced Penetrance

Age of Onset of Huntington's Disease in Carriers of Reduced Penetrance Alleles

2021 ◽  
Author(s):  
Erin I. McDonnell ◽  
Yuanjia Wang ◽  
Jill Goldman ◽  
Karen Marder
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Age Of Onset ◽  
Reduced Penetrance

scholarly journals Genetic epidemiological characteristics of a Hungarian subpopulation of patients with Huntington’s Disease

2021 ◽  
Author(s):  
Katalin Despotov ◽  
Dénes Zádori ◽  
Gábor Veres ◽  
Katalin Jakab ◽  
Gabreilla Gárdián ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Age Of Onset ◽  
Disease Onset ◽  
International Classification Of Diseases ◽  
Medical Database ◽  
Classification Of Diseases ◽  
Reduced Penetrance ◽  
The University ◽  
Epidemiological Characteristics

Abstract Background: Recent advances in therapeutic options may prevent deterioration related to Huntington’s disease (HD), even at the pre-symptomatic stage. Be that as it may, a well-characterized patient population is essential for screening and monitoring outcome. Accordingly, the aim of this study was to describe the characteristics of a Hungarian subpopulation of HD patients and mutation carriers diagnosed at the University of Szeged. Methods: We conducted a search for International Classification of Diseases (ICD) code G10H0 in the local medical database for the period of 1 January 1998 to 31 December 2018. Results: We identified 90 HD cases (male: 45, female: 45) and 34 asymptomatic carriers (male: 15, female: 19). The median age of onset was 45 years (range: 16-79). There were 3 cases of juvenile onset (3.3%), and 7 of late disease onset (7.8%). The median repeat length was 43 (range: 36-70) for the pathological and 19 for the non-pathological alleles (range: 9-35). 17.5% of the pathological alleles were in the decreased penetrance range, while 7% of non-pathological alleles were intermediate. Conclusions: The genetic and clinical features of the population examined in the present study were in line with the previous Hungarian study, as well as with international literature. The exceptions were the higher ratio of reduced penetrance and intermediate alleles.

scholarly journals Enroll-HD: An Integrated Clinical Research Platform and Worldwide Observational Study for Huntington's Disease

2021 ◽  
Vol 12 ◽  
Author(s):  
Swati Sathe ◽  
Jen Ware ◽  
Jamie Levey ◽  
Eileen Neacy ◽  
Robi Blumenstein ◽  
...  
Keyword(s):  
Informed Consent ◽  
Observational Study ◽  
Clinical Research ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Clinical Database ◽  
Consent Forms ◽  
Online Portal ◽  
Research Platform ◽  
Contractual Agreements

Established in July 2012, Enroll-HD is both an integrated clinical research platform and a worldwide observational study designed to meet the clinical research requirements necessary to develop therapeutics for Huntington's disease (HD). The platform offers participants a low-burden entry into HD research, providing a large, well-characterized, research-engaged cohort with associated clinical data and biosamples that facilitates recruitment into interventional trials and other research studies. Additional studies that use Enroll-HD data and/or biosamples are built into the platform to further research on biomarkers and outcome measures. Enroll-HD is now operating worldwide in 21 countries at 159 clinical sites across four continents—Europe, North America, Latin America, and Australasia—and has recruited almost 25,000 participants, generating a large, rich clinical database with associated biosamples to expedite HD research; any researcher at a verifiable research organization can access the clinical datasets and biosamples from Enroll-HD and nested studies. Important operational features of Enroll-HD include a strong emphasis on standardization, data quality, and protecting participant identity, a single worldwide study protocol, a flexible EDC system capable of integrating multiple studies, a comprehensive monitoring infrastructure, an online portal to train and certify site personnel, and standardized study documents including informed consent forms and contractual agreements.

Investigations of Huntington’s Disease and Huntington’s Disease-Like Syndromes in Indian Choreatic Patients

2020 ◽  
Vol 9 (3) ◽  
pp. 283-289 ◽  
Author(s):  
Jaslovleen Kaur ◽  
Shaista Parveen ◽  
Uzma Shamim ◽  
Pooja Sharma ◽  
Varun Suroliya ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Brain Mri ◽  
Repeat Expansion ◽  
Cag Repeats ◽  
Mri Findings ◽  
Cag Expansion ◽  
Choreiform Movement ◽  
C9orf72 Gene ◽  
Reduced Penetrance

Background: The diagnostic workup for choreiform movement disorders including Huntington’s disease (HD) and those mimicking HD like phenotype is complex. Objective: The aim of the present study was to genetically define HD and HD-like presentations in an Indian cohort. We also describe HTT-CAG expansion manifesting as neuroferritinopathy-like disorder in four families from Punjab in India. Materials and methods: 159 patients clinically diagnosed as HD and HD-like presentations from various tertiary neurology clinics were referred to our centre (CSIR-IGIB) for genetic investigations. As a first tier test, CAG-TNR for HTT was performed and subsequently HD-negative samples were screened for JPH3 (HDL2), TBP (SCA17), ATN1 (DRPLA), PPP2R2B (SCA12) and GGGGCC expansion in C9orf72 gene. Four families presenting as neuroferritinopathy-like disorder were also investigated for HTT-CAG expansion. Results: 94 of 159 (59%) patients were found to have expanded HTT-CAG repeats. Pathogenic repeat expansion in JPH3, TBP, ATN1 and C9orf72 were not found in HD negative cases. Two patients were positive for SCA12-CAG expansion in pathogenic length, whereas 5 cases harboured TBP-CAG repeats falling in reduced penetrance range of 41– 48 repeats for SCA17. Four unrelated families, presented with atypical chorea and brain MRI findings suggestive of basal ganglia abnormalities mimicking neuroferritinopathy were found to harbour HTT-CAG expansion. Conclusion: We present SCA12 as a new reported phenocopy of HD which should be considered for diagnostic workout along with SCA17 for HD-like syndromes. This study also illustrates the necessity, to consider evolving HD like phenotype, as a clinical diagnosis for cases with initial manifestations depicting neuroferritinopathy.

A case of Huntington's disease with two reduced penetrance alleles

2021 ◽  
pp. 106773
Author(s):  
Kai Grimm ◽  
Christine Zühlke ◽  
Christian Gerloff ◽  
Simone Zittel
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Reduced Penetrance
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