Original ArticleAutonomic disorders and myocardial 123I-metaiodobenzylguanidine scintigraphy in Huntington’s disease
Introduction
Huntington’s disease (HD) is an autosomal dominant neurodegenerative disorder caused by a CAG trinucleotide repeat expansion in the huntingtin gene on chromosome 4 which leads to the production of a protein with an abnormally long polyglutamine stretch.1 The prevalence is 10.6 to 13.7 × 10−5 in Western countries and the age at onset ranges between 30 and 50 years.1,2 The cardinal symptoms consist of movement disorders, usually chorea, cognitive impairment, and psychiatric disturbances.1,2
The clinical picture is also characterized by symptoms due to hypothalamic dysfunction as weight loss, sleep and endocrine disorders including increased cortisol levels, reduced testosterone levels and high prevalence of diabetes.3 The patients may complain of autonomic disorders that often precede the onset of motor manifestations. HD patients and pre-manifest CAG expansion carriers more significantly present with gastrointestinal, urinary, cardiovascular and, in men, sexual problems than the control subjects.4 In particular, potential cardiac manifestation of severe autonomic dysfunction, as light headedness on standing up, tachycardia, arrhythmias, and sudden cardiac death, seems to be more frequent in HD than in controls.4,5
Here, we aimed to investigate whether cardiac autonomic innervation assessed by 123I-metaiodobenzylguanidine (MIBG) imaging is impaired in HD patients, in comparison with control subjects (Ctrl).
Section snippets
Patients and Methods
We included fifteen HD patients (6 F and 9 M), with confirmation by genetic test, and ten Ctrl (5 F and 5 M), comparable for age. Written informed consent was obtained from all participants, according to the declaration of Helsinki and with the local Ethics Committee approval. Patients were assessed by the motor examination of the Unified HD Rating Scale (UHDRS, section III), and the Total Function Capacity (TFC). All patients underwent the Scale for Outcomes in Parkinson’s Disease-Autonomic
Results
Demographic and clinical characteristics and imaging findings are shown in Table 1. Ten patients were in stage 1 of disease (TFC 11 to 13), and 5 in stage 2 (TFC 7 to 10). At SCOPA-AUT questionnaire, dysphagia was reported by 9 subjects (64%; case 1, 4, 5, 6, 8, 11, 13, 14 and 15), drooling by 3 (20%; case 10, 13 and 14), gastrointestinal symptoms, as feeling that food gets stuck in throat or constipation, by 9 patients (60%; case 1, 6, 7, 8, 9, 10, 11, 13 and 14), genitourinary symptoms, as
Discussion
In the last years, the evidence of an autonomic dysfunction in HD, even in presymptomatic and early stage of the disease, has strengthened. Abnormal modulation of blood pressure and heart rate, manifesting with syncope and cardiac arrhythmias, often occur in HD. Abnormal circadian rhythm of heart rate, decreased heart rate variability and baroreceptor reflex failure have been observed in preclinical and clinical research.9, 10, 11 Recent studies showed the presence of both sympathetic and
Acknowledgments
Open access funding provided by Università degli Studi di Napoli Federico II within the CRUI-CARE Agreement.
Disclosures
Anna De Rosa, Roberta Assante, Elena Salvatore, Carmela Nappi, Silvio Peluso, Giovanni De Simini, Luigi Di Maio, Gianluigi Rosario Palmieri, Alessandro Roca, Giuseppe De Michele, Alberto Cuocolo and Sabina Pappatà declare that they have no conflicts of interest.
Funding
Not applicable.
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