Basal ganglia and cerebellar pathology in X-linked dystonia-parkinsonism

Brain : a Journal of Neurology
Henrike HanssenNorbert Brüggemann

Abstract

X-linked dystonia-parkinsonism is a neurodegenerative movement disorder characterized by adult-onset dystonia combined with parkinsonism over the disease course. Previous imaging and pathological findings indicate exclusive striatal atrophy with predominant pathology of the striosomal compartment in the dystonic phase of X-linked dystonia-parkinsonism. The striosome occupies 10-15% of the entire striatal volume and the density of striosomes follows a rostrocaudal gradient with the rostral striatum being considered striosome-rich. Recent quantitative MRI analyses provided evidence for an additional involvement of the white matter and the pallidum. In this study, we aimed to (i) disentangle the degree of atrophy in the different subdivisions of the striatum; (ii) investigate changes of cortical morphology; and (iii) elucidate the role of the cerebellum in X-linked dystonia-parkinsonism. T1-weighted MRI scans were acquired in 17 male X-linked dystonia-parkinsonism patients with predominant dystonia (40.1 ± 7.5 years) and 17 ethnicity-matched male healthy controls (35.2 ± 7.4 years). Voxel-based morphometry used a region of interest-based approach for the basal ganglia and primary motor cortex, whole brain analysis, and a separate ...Continue Reading

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Citations

Apr 12, 2019·Annals of Neurology·Ana WestenbergerChristine Klein
May 23, 2019·Current Opinion in Neurology·D Cristopher BraggLaurie J Ozelius
Aug 4, 2019·Annals of Neurology·Henrike HanssenNorbert Brüggemann
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Jan 14, 2021·Journal of Neural Transmission·Cara Fernandez-CeradoGeraldine Acuña-Sunshine
Sep 26, 2020·Movement Disorders : Official Journal of the Movement Disorder Society·Jamal Al AliXandra O Breakefield
Jan 25, 2021·Journal of Neural Transmission·Norbert Brüggemann
Oct 26, 2020·Journal of Neural Transmission·Anne WeissbachAloysius Domingo
Mar 20, 2021·Journal of Neural Transmission·Han-Joon Kim, Beomseok Jeon
May 30, 2021·Nature Communications·Björn-Hergen LaabsAna Westenberger
Aug 18, 2021·Movement Disorders : Official Journal of the Movement Disorder Society·Maria-Daniela CirnaruMichelle E Ehrlich

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