Association between Age and Striatal Volume Stratified by CAG Repeat Length in Prodromal Huntington Disease

Abstract Background Despite the progress in the knowledge of Huntington disease (HD) in recent years, the epidemiology continues uncertain, so the study of incidence becomes relevant. This is important since various factors (type of population, diagnostic criteria, disease-modifying factors, etc.) make these data highly variable. Therefore, the genetic diagnosis of these patients is important, since it unequivocally allows the detection of new cases. Methods Descriptive retrospective study with 179 individuals. Incidence of HD was calculated from the ratio of number of symptomatic cases newly diagnosed per 100,000 inhabitants per year during the period 2007–2019 in Aragon (Spain). Results 50 (27.9%) incident cases of HD (CAG repeat length ≥ 36) were identified from a total of 179 persons studied. The remaining 129/179 (72.1%) were HD negative (CAG repeat length < 36). 29 (58.0%) females and 21 (42.0%) males were confirmed as HD cases. The overall incidence was 0.648 per 100,000 patient-years. 11/50 positive HD cases (22.0%) were identified by performing a predictive test, without clinical symptoms. The minimum number of CAG repeats found was 9 and the most common CAG length among HD negative individuals was 16. Conclusions Our incidence lied within the range reported for other Caucasian populations. Implementation of new techniques has allowed to determine the exact number of CAG repeats, which is especially important in patients with triplet expansions in an HD intermediate and/or incomplete penetrance allele, both in diagnostic, predictive and prenatal tests.

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The neurology and natural history of patients with indeterminate CAG repeat length mutations of the Huntington disease gene

Journal of the Neurological Sciences ◽

10.1016/j.jns.2010.11.015 ◽

2011 ◽

Vol 301 (1-2) ◽

pp. 14-20 ◽

Cited By ~ 13

Author(s):

Peter K. Panegyres ◽

Judy G.S. Goh

Keyword(s):

Natural History ◽

Huntington Disease ◽

Disease Gene ◽

Repeat Length ◽

Cag Repeat ◽

History Of ◽

Huntington Disease Gene ◽

Length Mutations

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The association of CAG repeat length with clinical progression in Huntington disease

Neurology ◽

10.1212/01.wnl.0000204230.16619.d9 ◽

2006 ◽

Vol 66 (7) ◽

pp. 1016-1020 ◽

Cited By ~ 81

Author(s):

A. Rosenblatt ◽

K. -Y. Liang ◽

H. Zhou ◽

M. H. Abbott ◽

L. M. Gourley ◽

...

Keyword(s):

Huntington Disease ◽

Linear Models ◽

Motor Impairment ◽

Repeat Length ◽

Cag Repeat ◽

Clinical Progression ◽

Cag Expansion ◽

Rate Of Progression ◽

State Examination

Objective: To determine whether the rate of clinical progression in Huntington disease (HD) is influenced by the size of the CAG expansion.Methods: The dataset consisted of 3,402 examinations of 512 subjects seen through the Baltimore Huntington's Disease Center. Subjects were seen for a mean of 6.64 visits, with mean follow-up of 6.74 years. Subjects were administered the Quantified Neurological Examination, with its subsets the Motor Impairment and Chorea Scores, the Mini-Mental State Examination, and the HD Activities of Daily Living (ADL) Scale.Results: In an analysis based on the Random Effects Model, CAG length was significantly associated with the rate of progression of all measures except chorea and ADL. There was a significant interaction term between CAG length and disease duration for all measures except chorea. Further graphical exploration of the data supported these linear models and suggested that subjects at the low end of the expanded CAG repeat range may experience a more benign late course.Conclusions: CAG repeat length has a small effect on rate of progression that may be clinically important over time. Individuals with the shortest expansions appear to have the best prognosis. These effects of the CAG length may be relevant in the analysis of clinical trials.

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Association between Age and Striatal Volume Stratified by CAG Repeat Length in Prodromal Huntington Disease

PLoS Currents ◽

10.1371/4f7c7cf783354 ◽

2011 ◽

Cited By ~ 1

Author(s):

Elizabeth Aylward ◽

James Mills ◽

Dawei Liu ◽

Peggy Nopoulos ◽

Christopher A. Ross ◽

...

Keyword(s):

Huntington Disease ◽

Repeat Length ◽

Cag Repeat

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Incidence of Huntington disease in a northeastern Spanish region: A 13-year retrospective study at tertiary care centre

10.21203/rs.3.rs-31294/v3 ◽

2020 ◽

Author(s):

Paula Sienes Bailo ◽

Raquel Lahoz ◽

Juan Pelegrín Sánchez Marín ◽

Silvia Izquierdo Álvarez

Keyword(s):

Retrospective Study ◽

Huntington Disease ◽

Tertiary Care ◽

Genetic Diagnosis ◽

Repeat Length ◽

Cag Repeat ◽

Cag Repeats ◽

Incomplete Penetrance ◽

Predictive Test ◽

Incident Cases

Abstract Background: Despite the progress in the knowledge of Huntington disease (HD) in recent years, the epidemiology continues uncertain, so the study of incidence becomes relevant. This is important since various factors (type of population, diagnostic criteria, disease-modifying factors, etc.) make these data highly variable. Therefore, the genetic diagnosis of these patients is important, since it unequivocally allows the detection of new cases.Methods: Descriptive retrospective study with 179 individuals. Incidence of HD was calculated from the ratio of number of symptomatic cases newly diagnosed per 100 000 inhabitants per year during the period 2007-2019 in Aragon (Spain).Results: 50 (27.9%) incident cases of HD (CAG repeat length ≥36) were identified from a total of 179 persons studied. The remaining 129/179 (73.4%) were HD negative (CAG repeat length <36). 29 (58.0%) females and 21 (42.0%) males were confirmed as HD cases. The overall incidence was 64.8 per 100 000 patient-years. 11/50 positive HD cases (22.0%) were identified by performing a predictive test, without clinical symptoms. The minimum number of CAG repeats found was 10 and the most common CAG length among HD negative individuals was 16.Conclusions: Our incidence lied within the range reported for other Caucasian populations. Implementation of new techniques has allowed to determine the exact number of CAG repeats, which is especially important in patients with triplet expansions in an HD intermediate and/or incomplete penetrance allele, both in diagnostic, predictive and prenatal tests.

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Incidence of Huntington disease in a northeastern Spanish region: A 13-year retrospective study at tertiary care centre

10.21203/rs.3.rs-31294/v2 ◽

2020 ◽

Author(s):

Paula Sienes Bailo ◽

Raquel Lahoz ◽

Juan Pelegrín Sánchez Marín ◽

Silvia Izquierdo Álvarez

Keyword(s):

Retrospective Study ◽

Huntington Disease ◽

Tertiary Care ◽

Genetic Diagnosis ◽

Repeat Length ◽

Cag Repeat ◽

Cag Repeats ◽

Incomplete Penetrance ◽

Predictive Test ◽

Incident Cases

Abstract Background: Despite the progress in the knowledge of Huntington disease (HD) in recent years, the epidemiology continues uncertain, so the study of incidence becomes relevant. This is important since various factors (type of population, diagnostic criteria, disease-modifying factors, etc.) make these data highly variable. Therefore, the genetic diagnosis of these patients is important, since it unequivocally allows the detection of new cases.Methods: Descriptive retrospective study with 179 individuals. Incidence of HD was calculated from the ratio of number of symptomatic cases newly diagnosed per 100 000 inhabitants per year during the period 2007-2019 in Aragon (Spain). Results: 50 (27.9%) incident cases of HD (CAG repeat length ≥36) were identified from a total of 179 persons studied. The remaining 129/179 (73.4%) were HD negative (CAG repeat length <36). 29 (58.0%) females and 21 (42.0%) males were confirmed as HD cases. The overall incidence was 64.8 per 100 000 patient-years. 11/50 positive HD cases (22.0%) were identified by performing a predictive test, without clinical symptoms. The minimum number of CAG repeats found was 10 and the most common CAG length among HD negative individuals was 16.Conclusions: Our incidence lied within the range reported for other Caucasian populations. Implementation of new techniques has allowed to determine the exact number of CAG repeats, which is especially important in patients with triplet expansions in an HD intermediate and/or incomplete penetrance allele, both in diagnostic, predictive and prenatal tests.

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Incidence of Huntington disease in a northeastern Spanish region: A 13-year retrospective study at tertiary care centre

10.21203/rs.3.rs-31294/v1 ◽

2020 ◽

Author(s):

Paula Sienes Bailo ◽

Raquel Lahoz ◽

Juan Pelegrín Sánchez Marín ◽

Silvia Izquierdo Álvarez

Keyword(s):

Retrospective Study ◽

Huntington Disease ◽

Tertiary Care ◽

Repeat Length ◽

Cag Repeat ◽

Cag Repeats ◽

Incomplete Penetrance ◽

Predictive Test ◽

Female Ratio ◽

Incident Cases

Abstract Background Despite the progress in the knowledge of Huntington disease (HD) in recent years, the epidemiology continues uncertain, so the study of incidence becomes relevant. Methods Descriptive retrospective study with 188 individuals. Incidence of HD was calculated from the ratio of number of symptomatic cases newly diagnosed per million inhabitants per year during the period 2007–2019 in Aragon (Spain). Results 50 (27.9%) incident cases of HD (CAG repeat length ≥ 36) were identified from a total of 179 persons studied. The remaining 129/179 (73.4%) were HD negative (CAG repeat length < 36). Male to female ratio was 1:1,4; with 29 (58.0%) females and 21 (42.0%) males confirmed HD cases. The overall incidence was 6.48 per million patient-years. 12/50 positive HD cases (24,0%) were identified by performing a predictive test, without clinical symptoms. The minimum number of CAG repeats found was 10 and the most common CAG length among HD negative individuals was 16. Conclusions Our incidence lied within the range reported for other Caucasian populations. Implementation of new techniques has allowed to determine the exact number of CAG repeats, which is especially important in patients with triplet expansions in an HD intermediate and/or incomplete penetrance allele, both in diagnostic, predictive and prenatal tests.

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