作者
Henrike Hanssen, Cid CE Diesta, Marcus Heldmann, Jackson Dy, Jeffrey Tantianpact, Julia Steinhardt, Rosanna Sauza, Hans TS Manalo, Andreas Sprenger, Charles Jourdan Reyes, Raphael Tuazon, Björn‐Hergen Laabs, Aloysius Domingo, Raymond L Rosales, Christine Klein, Thomas F Münte, Ana Westenberger, Jean Q Oropilla, Norbert Brüggemann
发表日期
2023/5
期刊
Annals of Neurology
卷号
93
期号
5
页码范围
999-1011
出版商
John Wiley & Sons, Inc.
简介
In neurodegenerative diseases, the characterization of the prodromal phase is essential for the future application of disease‐modifying therapies. X‐linked dystonia‐parkinsonism is a hereditary neurodegenerative movement disorder characterized by severe adult‐onset dystonia accompanied by parkinsonism. Distinct striatal and pallidal atrophy is present already in early disease stages indicating a long‐lasting presymptomatic degenerative process. To gain insight into the prodromal phase of X‐linked dystonia‐parkinsonism, structural and iron‐sensitive magnetic resonance imaging (MRI) was performed in 10 non‐manifesting carriers and 24 healthy controls in a double‐blind fashion. Seventeen patients with X‐linked dystonia‐parkinsonism were recruited to replicate previous findings of basal ganglia pathology and iron accumulation. Age at onset was estimated in non‐manifesting carriers and patients using the …
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