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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.
Keywords
demographics, Huntington’s Disease, population genetics, trinucleotide repeat expansion
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CURRENT STATUS: Published
View the published article at BMC Neurology.
No community comments so far
Editorial decision: Accept
On 01 Feb, 2021
Editor assigned
On 29 Dec, 2020
Submission checks complete
On 29 Dec, 2020
Editor invited
On 29 Dec, 2020
Version (no preprint)
Posted 01 Dec, 2020
Editorial decision: Major revision
On 01 Dec, 2020
Review #1 received
Received 27 Nov, 2020
Review #2 received
Received 24 Nov, 2020
Reviewer #2 agreed
On 26 Oct, 2020
Reviewer #1 agreed
On 23 Oct, 2020
Reviewers invited
Invitations sent on 15 Oct, 2020
Editor assigned
On 06 Oct, 2020
Submission checks complete
On 05 Oct, 2020
Editor invited
On 05 Oct, 2020
This version was not preprinted
Version 1
Posted 14 Jul, 2020
No comments provided
Editorial decision: Major revision
On 07 Sep, 2020
Reviewer #3 agreed
On 15 Aug, 2020
Review #3 received
Received 15 Aug, 2020
Review #2 received
Received 15 Aug, 2020
Reviewer #4 agreed
On 15 Aug, 2020
Reviewer #2 agreed
On 14 Aug, 2020
Review #1 received
Received 03 Aug, 2020
Reviewer #1 agreed
On 14 Jul, 2020
Reviewers invited
Invitations sent on 13 Jul, 2020
Editor assigned
On 06 Jul, 2020
Submission checks complete
On 05 Jul, 2020
Editor invited
On 05 Jul, 2020
First submitted
On 03 Jul, 2020
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A new preprint design is coming!
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See the published version of this preprint at BMC Neurology.
This is a preprint, a preliminary version of a manuscript that has not completed peer review at a journal. Research Square does not conduct peer review prior to posting preprints. The posting of a preprint on this server should not be interpreted as an endorsement of its validity or suitability for dissemination as established information or for guiding clinical practice.
Learn more about In Review
Research article
Badges
Prescreen
This manuscript passed our Prescreen assessment
Complete author information
Appropriate declaration statements
Potential risks to human health
Prescreen
Peer Review Timeline
CURRENT STATUS: Published
View the published article at BMC Neurology.
No community comments so far
Editorial decision: Accept
On 01 Feb, 2021
Editor assigned
On 29 Dec, 2020
Submission checks complete
On 29 Dec, 2020
Editor invited
On 29 Dec, 2020
Version (no preprint)
Posted 01 Dec, 2020
Editorial decision: Major revision
On 01 Dec, 2020
Review #1 received
Received 27 Nov, 2020
Review #2 received
Received 24 Nov, 2020
Reviewer #2 agreed
On 26 Oct, 2020
Reviewer #1 agreed
On 23 Oct, 2020
Reviewers invited
Invitations sent on 15 Oct, 2020
Editor assigned
On 06 Oct, 2020
Submission checks complete
On 05 Oct, 2020
Editor invited
On 05 Oct, 2020
This version was not preprinted
Version 1
Posted 14 Jul, 2020
No comments provided
Editorial decision: Major revision
On 07 Sep, 2020
Reviewer #3 agreed
On 15 Aug, 2020
Review #3 received
Received 15 Aug, 2020
Review #2 received
Received 15 Aug, 2020
Reviewer #4 agreed
On 15 Aug, 2020
Reviewer #2 agreed
On 14 Aug, 2020
Review #1 received
Received 03 Aug, 2020
Reviewer #1 agreed
On 14 Jul, 2020
Reviewers invited
Invitations sent on 13 Jul, 2020
Editor assigned
On 06 Jul, 2020
Submission checks complete
On 05 Jul, 2020
Editor invited
On 05 Jul, 2020
First submitted
On 03 Jul, 2020
Metrics
Comments: 0
PDF Downloads: ...
HTML Views: ...
License:
This work is licensed under a CC BY 4.0 License. Read Full License
View the published article at BMC Neurology.
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.
Figure 1
Figure 2
Figure 3
Figure 4
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