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The Huntington’s Disease Gene in an Italian Cohort of Patients with Bipolar Disorder

Background and objectives: Huntington’s disease (HD) is characterized by motor, cognitive and psychiatric manifestations and caused by an expansion of CAG repeats over 35 triplets on the huntingtin (HTT) gene. However, expansions in the range 27–35 repeats (intermediate allele) can be associated wit...

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Autores principales: Ferrari, Camilla, Capacci, Elena, Bagnoli, Silvia, Ingannato, Assunta, Sorbi, Sandro, Nacmias, Benedetta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10531383/
https://www.ncbi.nlm.nih.gov/pubmed/37761821
http://dx.doi.org/10.3390/genes14091681
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author Ferrari, Camilla
Capacci, Elena
Bagnoli, Silvia
Ingannato, Assunta
Sorbi, Sandro
Nacmias, Benedetta
author_facet Ferrari, Camilla
Capacci, Elena
Bagnoli, Silvia
Ingannato, Assunta
Sorbi, Sandro
Nacmias, Benedetta
author_sort Ferrari, Camilla
collection PubMed
description Background and objectives: Huntington’s disease (HD) is characterized by motor, cognitive and psychiatric manifestations and caused by an expansion of CAG repeats over 35 triplets on the huntingtin (HTT) gene. However, expansions in the range 27–35 repeats (intermediate allele) can be associated with pathological phenotypes. The onset of HD is conventionally defined by the onset of motor symptoms, but psychiatric disturbances can precede the motor phase by up to twenty years. The aims of the present study are to identify HD patients in the pre-motor phase of the disease among patients diagnosed with bipolar disorders and evaluate any differences between bipolar patients carrying the normal HTT allele and patients with the expanded HTT gene. Methods: We assessed the HTT genotype in an Italian cohort of 69 patients who were affected by either type 1 or type 2 bipolar disorder. Results: No patient was found to be a carrier of the pathological HTT allele, but 10% of bipolar subjects carried an intermediate allele. Carriers of the intermediate allele were older at the onset of psychiatric symptoms than non-carriers. Conclusion: The pathological HTT gene was not associated with bipolar disorder, while we found a higher frequency of the intermediate allele among the bipolar population with respect to healthy controls. The identification of this subset of bipolar subjects has implications for the clinical management of patients and their family members and promotes further investigation into possible pathological mechanisms common to both HD and bipolar disorder.
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spelling pubmed-105313832023-09-28 The Huntington’s Disease Gene in an Italian Cohort of Patients with Bipolar Disorder Ferrari, Camilla Capacci, Elena Bagnoli, Silvia Ingannato, Assunta Sorbi, Sandro Nacmias, Benedetta Genes (Basel) Brief Report Background and objectives: Huntington’s disease (HD) is characterized by motor, cognitive and psychiatric manifestations and caused by an expansion of CAG repeats over 35 triplets on the huntingtin (HTT) gene. However, expansions in the range 27–35 repeats (intermediate allele) can be associated with pathological phenotypes. The onset of HD is conventionally defined by the onset of motor symptoms, but psychiatric disturbances can precede the motor phase by up to twenty years. The aims of the present study are to identify HD patients in the pre-motor phase of the disease among patients diagnosed with bipolar disorders and evaluate any differences between bipolar patients carrying the normal HTT allele and patients with the expanded HTT gene. Methods: We assessed the HTT genotype in an Italian cohort of 69 patients who were affected by either type 1 or type 2 bipolar disorder. Results: No patient was found to be a carrier of the pathological HTT allele, but 10% of bipolar subjects carried an intermediate allele. Carriers of the intermediate allele were older at the onset of psychiatric symptoms than non-carriers. Conclusion: The pathological HTT gene was not associated with bipolar disorder, while we found a higher frequency of the intermediate allele among the bipolar population with respect to healthy controls. The identification of this subset of bipolar subjects has implications for the clinical management of patients and their family members and promotes further investigation into possible pathological mechanisms common to both HD and bipolar disorder. MDPI 2023-08-25 /pmc/articles/PMC10531383/ /pubmed/37761821 http://dx.doi.org/10.3390/genes14091681 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Brief Report
Ferrari, Camilla
Capacci, Elena
Bagnoli, Silvia
Ingannato, Assunta
Sorbi, Sandro
Nacmias, Benedetta
The Huntington’s Disease Gene in an Italian Cohort of Patients with Bipolar Disorder
title The Huntington’s Disease Gene in an Italian Cohort of Patients with Bipolar Disorder
title_full The Huntington’s Disease Gene in an Italian Cohort of Patients with Bipolar Disorder
title_fullStr The Huntington’s Disease Gene in an Italian Cohort of Patients with Bipolar Disorder
title_full_unstemmed The Huntington’s Disease Gene in an Italian Cohort of Patients with Bipolar Disorder
title_short The Huntington’s Disease Gene in an Italian Cohort of Patients with Bipolar Disorder
title_sort huntington’s disease gene in an italian cohort of patients with bipolar disorder
topic Brief Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10531383/
https://www.ncbi.nlm.nih.gov/pubmed/37761821
http://dx.doi.org/10.3390/genes14091681
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