Preprint Brief Report Version 1 Preserved in Portico This version is not peer-reviewed

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

Version 1 : Received: 7 August 2023 / Approved: 8 August 2023 / Online: 9 August 2023 (10:33:15 CEST)

A peer-reviewed article of this Preprint also exists.

Ferrari, C.; Capacci, E.; Bagnoli, S.; Ingannato, A.; Sorbi, S.; Nacmias, B. The Huntington’s Disease Gene in an Italian Cohort of Patients with Bipolar Disorder. Genes 2023, 14, 1681. Ferrari, C.; Capacci, E.; Bagnoli, S.; Ingannato, A.; Sorbi, S.; Nacmias, B. The Huntington’s Disease Gene in an Italian Cohort of Patients with Bipolar Disorder. Genes 2023, 14, 1681.

Abstract

Background and objectives: Huntington disease (HD) is characterized by motor, cognitive and psychiatric manifestations and is 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 to evaluate any differences between bipolar patients carrying normal HTT allele and patients with expanded HTT gene. Methods: We assessed the HTT genotype in an Italian cohort of 69 patients affected by bipolar disorder type 1 and type 2. 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 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.

Keywords

Huntington disease; CAG; HTT gene; bipolar disorder; intermediate allele

Subject

Medicine and Pharmacology, Neuroscience and Neurology

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