Depression in patients with Huntington disease correlates with alterations of the brain stem raphe depicted by transcranial sonography

Abstract

Background: Transcranial sonography (TCS) has become a new diagnostic tool in the evaluation of extrapyramidal disorders. Studies of TCS report alterations of the mesencephalic raphe in patients with depression. The aim of this study was to evaluate TCS findings in patients with Huntington disease in correlation with their neurologic and psychiatric status. Methods: We recruited patients with genetically confirmed Huntington disease. The neurological and psychiatric status of participants was assessed by independent physicians. Echogenicities were investigated according to examination protocol for extrapyramidal disorders using a Siemens Sonoline Elegra system. The sonography examiner was blinded for clinical data. Results: We included 39 patients in our study; 21 patients (53.8%) showed symptoms of depression at the time of evaluation and, of those, 15 (71.4%) had hypoechogenic raphe structures. Thirty patients (76.9%) had a history of depressive episodes, 19 (63.3%) of them with hypoechogenic raphe structures. All 9 patients without a history of depressive episodes showed normal echogenicity of raphe structures (sensitivity 63.3%, specificity 100%). Twelve (70.6%) of the 17 patients with Huntington disease who showed psychiatric disturbances prior to the occurrence of motor symptoms exhibited pathological raphe echogenicity (sensitivity 70.6%, specificity 68.2%). Limitations: Most of the patients were taking antichoreatic medication, which particularly influences neurologic status. Thus, a meaningful interpretation of the correlation between TCS findings and neurologic features was limited. Conclusion: As a novel finding, a relation between mesencephalic raphe echogenicity and depressive state could be identified in patients with Huntington disease. An alteration of the serotonergic brain stem raphe might be involved in the pathogenesis of depression in these patients.

Transcranial Sonography (TCS) of Brain Parenchyma in Movement Disorders: Quality Standards, Diagnostic Applications and Novel Technologies

“…This finding is also present in 70 -90 % of patients with atypical Parkinsonian syndromes and supports, especially if combined with other TCS findings ( • " Table 3), their discrimination from PD [1, 30,31]. Caudate nucleus hyperechogenicity is often found in patients with Huntington's disease [38] and may support discrimination from other chorea disorders [unpublished data]. A pronounced hyperechogenicity of basal ganglia, with brightness similar to that of the pineal gland and calcified structures of the choroid plexus in the dorsal horn of the lateral ventricle, indicate calcification of the basal ganglia and may be seen as a dot-like lesion in elderly subjects but is more extended in Fahr's disease [1,45].…”

An image‐based model of brain volume biomarker changes in Huntington's disease

“…Finally, the EBM predicts the posterior insula and basal forebrain as late‐stage biomarkers. The posterior insula has been shown to be functionally connected to the striatum and motor cortex, both of which were identified as displaying measurable atrophy in early manifest HD 39. Involvement of the basal forebrain in HD is not well reported in the literature, although its neuronal connectivity to the cerebral cortex and amygdala has been studied in relation to the cholinergic system 40…”

Sonographic basal ganglia alterations are related to non-motor symptoms in multiple sclerosis

“…In other neurodegenerative disorders, such as Parkinson's disease, Wilson's disease and Huntington's disease, there was a relationship between depression and reduced raphe echogenicity which has been proposed to reflect an alteration of the serotonergic raphe nuclei [18,19,21,22,42,45]. The missing relationship between reduced raphe echogenicity and depression in MS patients suggests that a different mechanism (e.g., an increased lesion load of the projection areas of the basal limbic system [12,15]), leads to depression in MS patients.…”