Research

The evidence for structural abnormalities in brains of HD patients does not fully explain the considerable heterogeneity of the clinical features or the rates of disease progression. This suggests that structural abnormalities do not directly predict brain function or behaviour. To better understand the relationship between brain structure, brain function and behaviour we use structural and functional neuroimaging techniques, and electrophysiological techniques, like transcranial magnetic stimulation or electroencephalography.

Recent publications related to this topic:

Kasper et al. report that, in Huntington’s disease, the functional integrity of the dopamine receptor-rich caudate nucleus is key to maintaining network function. Loss of caudate functional integrity leads to emergence of motor signs independent of atrophy. Functional integrity of key network hubs could be similarly relevant in other neurodegenerative diseases.
Kasper et al., (2023)

Other publications related to this topic include:

Kubera et al., (2019)

Gregory et al., (2019)

Braisch et al., (2019)

Casula et el., (2018)

Gregory et al., (2018)

HD predominantly, but not exclusively, affects the brain. This is important because evidence for HD pathology beyond the brain means that peripheral tissues may serve as a source for biomarkers. Like the brain several peripheral tissues may have compromised mitochondrial biology. The mitochondrial signature in the most easily accessible peripheral tissues has biomarker potential for HD including the prodromal phase where HD expansion mutation carriers are well. We examine many aspects of mitochondrial biology including respiratory chain activity, ATP generation, biogenesis, mitochondrial dynamics and mitophagy.

Recent publications related to this topic:

In this study, we demonstrate that examining extracellular vesicles (EVs) can give new insights into pathologic mechanisms in Huntington disease.EVs from HD individuals convey specific actionable information in comparison to EVs from healthy people highlighting the biological relevance and potential use of EVs as a biomarker in clinical trials.

Neueder et al., (2024)

In this study, we show that life-long expression of mutant HTT causes a mitochondrial phenotype indicative of mtDNA instability in fresh post-mitotic human skeletal muscle. Thus, genomic instability may not be limited to nuclear DNA.

Neueder et al., (2024)

Other publications:

Neueder et al., (2022)

Wang et al., (2021)

Neueder et al., (2020)

Kojer et al., (2019)