Echogenicity of basal ganglia structures in different Huntington’s disease phenotypes

Abstract

In Huntington's disease (HD), a neurodegenerative-inherited disease, chorea as the typical kind of movement disorder is described. Beside chorea, however, all other kinds of movement disturbances, such as bradykinesia, dystonia, tremor or myoclonus can occur. Aim of the current study was to investigate alterations in the echogenicity of basal ganglia structures in different Huntington's disease phenotypes. 47 patients with manifest and genetically confirmed HD were recruited. All participants underwent a thorough neurological examination. According to a previously described method, classification into predominantly choreatic, mixed or bradykinetic-rigid motor phenotypes was performed depending on subscores of the Unified Huntington's Disease Rating Scale. In addition, findings in juvenile HD were compared to adult HD. Transcranial sonography was performed by investigators blinded to clinical classification. There were no significant differences in basal ganglia echogenicities between the three phenotypes. Size of echogenic area of substantia nigra (SN) correlated positively with CAG repeat and bradykinesia subscore, and negatively with age of onset and chorea subscore. Comparing juvenile and adult HD subtypes, SN hyperechogenicity was significantly more often detectable in the juvenile form (100 vs. 29.3 %, p = 0.002). Regarding echogenicity of caudate or lentiform nuclei, no significant differences were detected. HD patients with the juvenile variant exhibit marked hyperechogenicity of substantia nigra. No significant differences in basal ganglia echogenicities between predominantly choreatic, mixed or bradykinetic-rigid motor phenotypes were detected.

Alterations in transcranial sonography among Huntington’s disease patients with psychiatric symptoms

“…However, a correlation between the presence of SN abnormalities and disease status was not found. Saft et al (2015) found a higher frequency of SN hyperechogenicity among patients with juvenile HD (i.e., 100%) as compared to adult type (i.e., 29.3%). Importantly, in that study (Saft et al 2015), the presence of SN hyperechogenicity correlated with the bradykinesia subscore in the UHDRS, suggesting that these abnormalities may be a marker of the bradykinetic and rigid motor phenotype of HD.…”

“…To-date, three published studies have evaluated changes in basal ganglia echogenicity in HD patients (Saft et al 2015;Krogias et al 2010;Postert et al 1999). These studies, however, were performed on limited groups of patients and revealed changes in echogenicity of both the substantia nigra and the nucleus raphe.…”

Developments in the Role of Transcranial Sonography for the Differential Diagnosis of Parkinsonism

“…The amelioration of spatial resolution of TCS will probably facilitate new measurements in the future, beyond standardised protocols of SN and ventricular system analyses, with potential application to other neurological disorders [92][93][94].…”

Transcranial Sonography Findings in Depression in Association With Psychiatric and Neurologic Diseases: A Review

“…So far, four studies have been published evaluating TCS findings in patients with HD . In addition to a higher prevalence of SN alterations, most of the studies reported a trend towards a higher amount of hyperechogenic alteration in the caudate nuclei as compared to healthy controls .…”

“…47 So far, four studies have been published evaluating TCS findings in patients with HD. 10,[48][49][50] In addition to a higher prevalence of SN alterations, most of the studies reported a trend towards a higher amount of hyperechogenic alteration in the caudate nuclei as compared to healthy controls. 18 In the only study applying a complete TCS protocol including assessment of BR echogenicity, a significant association between hypoechogenic BR signal and depression could be demonstrated.…”