Co-occurring frontal variant Alzheimer's dementia and carrier of Huntington's disease allele with reduced penetrance

2017 ◽  
Vol 17 (6) ◽  
pp. 488-490
Author(s):  
Iris Rawtaer ◽  
Ashok Krishnamoorthy
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Alzheimer’S Dementia ◽  
Alzheimer's Dementia ◽  
Disease Allele ◽  
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 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

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.

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

scholarly journals Reduced Penetrance of the Huntington's Disease Mutation

1997 ◽  
Vol 6 (5) ◽  
pp. 775-779 ◽  
Author(s):  
S. M. McNeil ◽  
A. Novelletto ◽  
J. Srinidhi ◽  
G. Barnes ◽  
I. Kornbluth ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Disease Mutation ◽  
Reduced Penetrance

scholarly journals Epidemiologic characteristics of a Hungarian subpopulation of Huntington’s Disease patients

2020 ◽  
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 ◽  
Outcome Monitoring ◽  
Presymptomatic Stage ◽  
Classification Of Diseases ◽  
Reduced Penetrance

Abstract Background: recent advances in the therapeutic options may prevent deterioration related to Huntington’s disease (HD) even at the presymptomatic stage. However, a well-characterized patient population is essential for screening and outcome monitoring as well. 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 between 1 January 1998 and 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 (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 was in the decreased penetrance range, while 7% of non-pathological alleles was intermediate.Conclusions: the genetic and clinical features of the population examined in present study was in line with the previous Hungarian study as well as with international literature, the exceptions being the higher ratio of reduced penetrance and intermediate alleles.

I2 Huntington’s disease reduced penetrance alleles occur at high frequency and affect age-related increases in prevalence

2016 ◽  
Vol 87 (Suppl 1) ◽  
pp. A59.3-A60
Author(s):  
Chris Kay ◽  
Jennifer Collins ◽  
Zosia Miedzybrodzka ◽  
Galen Wright ◽  
Steven Madore ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
High Frequency ◽  
Age Related ◽  
Reduced Penetrance

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

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Katalin Despotov ◽  
Dénes Zádori ◽  
Gábor Veres ◽  
Katalin Jakab ◽  
Gabriella 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.

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