Imaging gradual neurodegeneration in a basal ganglia model disease.
Adult
Atrophy
/ pathology
Basal Ganglia Diseases
/ complications
Case-Control Studies
Dystonic Disorders
/ complications
Humans
Iron
/ metabolism
Magnetic Resonance Imaging
Male
Nerve Degeneration
/ pathology
Neuroimaging
Parkinsonian Disorders
/ complications
Putamen
/ diagnostic imaging
Severity of Illness Index
Young Adult
Journal
Annals of neurology
ISSN: 1531-8249
Titre abrégé: Ann Neurol
Pays: United States
ID NLM: 7707449
Informations de publication
Date de publication:
10 2019
10 2019
Historique:
received:
13
12
2018
revised:
29
07
2019
accepted:
29
07
2019
pubmed:
4
8
2019
medline:
21
4
2020
entrez:
4
8
2019
Statut:
ppublish
Résumé
X-linked dystonia-parkinsonism (XDP) is a neurodegenerative disease with adult onset dystonia and subsequent parkinsonism. Postmortem and imaging studies revealed remarkable striatal pathology, with a predominant involvement of the striosomal compartment in the early phase. Here, we aimed to disentangle sequential neurodegeneration in the striatum of XDP patients, provide evidence for preferential loss of distinct striatal areas in the early phase, and investigate whether iron accumulation is present. We used multimodal structural magnetic resonance imaging (voxel-based morphometry and relaxometry) in 18 male XDP patients carrying a TAF1 mutation and 19 age-matched male controls. Voxel-based relaxometry and morphometry revealed (1) a cluster in the anteromedial putamen showing high iron content and severe atrophy (-55%) and (2) a cluster with reduced relaxation rates as a marker for increased water levels and a lower degree of atrophy (-20%) in the dorsolateral putamen. Iron deposition correlated with the degree of atrophy (ρ = -0.585, p = 0.011) and disease duration (ρ = 0.632, p = 0.005) in the anteromedial putamen. In the dorsolateral putamen, sensorimotor putamen atrophy correlated with disease severity (ρ = -0.649, p = 0.004). This multimodal approach identified a patchy pattern of atrophy within the putamen. Atrophy is advanced and associated with iron accumulation in rostral regions of the striatum, whereas neurodegeneration is moderate and still ongoing in dorsolateral areas. Given the short disease duration and predominant dystonic phenotype, these results are well in line with early and preferential degeneration of striosome-rich striatal areas in XDP. ANN NEUROL 2019;86:517-526.
Substances chimiques
Iron
E1UOL152H7
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
517-526Subventions
Organisme : Hermann and Lilly Schilling Foundation
Pays : International
Organisme : German Research Foundation
ID : FOR2488
Pays : International
Organisme : Collaborative Center for XDP
Pays : International
Informations de copyright
© 2019 The Authors. Annals of Neurology published by Wiley Periodicals, Inc. on behalf of American Neurological Association.
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