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Head of the caudate nucleus is most vulnerable in chorea-acanthocytosis: a voxel-based morphometry study
Karsten Henkel1, Adrian Danek, Jordan Grafman
1Department of Neurology, University of Ulm, Ulm, Germany. karsten.henkel@gmx.de
Insights
Chorea-acanthocytosis (ChAc) causes brain atrophy, particularly in the caudate nucleus, impacting neurological function. This study used MRI to identify specific brain region vulnerabilities in ChAc patients.
Area of Science:
- Neuroscience
- Genetics
- Radiology
Background:
- Chorea-acanthocytosis (ChAc) is a rare, autosomal recessive disorder.
- It involves erythrocyte membrane dysfunction, leading to acanthocytes and neurological issues like hyperkinesias and neuropsychological impairment.
- Previous studies indicated basal ganglia damage in ChAc.
Purpose of the Study:
- To investigate regional brain atrophy in Chorea-acanthocytosis (ChAc) patients using high-resolution MRI.
- To compare gray matter density in ChAc patients with healthy controls.
- To assess global brain atrophy in ChAc patients.
Main Methods:
- High-resolution MRI was used to analyze brain structure in six ChAc patients with VPS13A gene mutations.
- Voxel-based morphometry was employed for observer-independent regional atrophy assessment.
- Brain parenchymal fraction (BPF) was used to determine global brain atrophy.
Main Results:
- A significant, nearly symmetrical reduction in gray matter density was observed in the head of the caudate nucleus bilaterally in ChAc patients (P < 0.001, corrected).
- No other significant gray matter changes were detected.
- Global brain atrophy analysis using BPF showed no significant differences between ChAc patients and controls.
Conclusions:
- The findings suggest a predilection for atrophy in the head of the caudate nucleus in ChAc.
- This specific atrophy pattern highlights the vulnerability of this striatal region in ChAc.
- The results align with the known neuropsychological disturbances associated with ChAc, which are linked to caudate nucleus function.
Abstract:
Chorea-acanthocytosis (ChAc; OMIM 200150) is a rare autosomal recessive disease with dysfunction of the erythrocyte membrane, presenting with acanthocytes and neurological manifestations characterized by progressive hyperkinesias (chorea, dystonia) and neuropsychological impairment. Damage to the basal ganglia was described previously in neuropathological and neuroimaging investigations. We analyzed high-resolution MRI of six ChAc patients with mutations in the VPS13A gene (median age, 37 years; mean time since clinical onset, 13 years) with respect to regional atrophy by use of the observer-independent technique of voxel-based morphometry in comparison to 15 age-matched healthy controls. Additionally, global brain atrophy was determined using the standardized brain parenchymal fraction (BPF) method. A robust regional reduction of gray matter density was observed in the head of the caudate nucleus bilaterally and was nearly symmetrical (P < 0.001, corrected for small volumes). No additional gray matter changes were found. In the BPF analysis, there was no significant global brain atrophy. The predilection of atrophy in the head of the caudate nucleus, as suggested by our results, argues for a particular vulnerability of this part of the striatum in ChAc and is in agreement with pronounced neuropsychological disturbances that are thought to rely on these regions.
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