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9 results on '"Diesta, Cid C"'

2. Neuroenergetic Changes in Patients with X‐Linked Dystonia‐Parkinsonism and Female Carriers.

Author

Prasuhn, Jannik, Henkel, Julia, Algodon, Shela Marie, Uter, Jan, Rosales, Raymond L., Klein, Christine, Steinhardt, Julia, Diesta, Cid C., and Brüggemann, Norbert

Subjects
NUCLEAR magnetic resonance spectroscopy, MAGNETIC resonance imaging, PATIENTS, BASAL ganglia, MOVEMENT disorders, SYMPTOMS, BASAL ganglia diseases
Abstract

Background: X‐linked dystonia‐parkinsonism (XDP) is a rare movement disorder characterized by profound neurodegeneration in the basal ganglia. The molecular consequences and the bioenergetic state of affected individuals remain largely unexplored. Objectives: To investigate the bioenergetic state in male patients with XDP and female carriers using 31phosphorus magnetic resonance spectroscopy imaging and to correlate these findings with clinical manifestations. Methods: We examined the levels of high‐energy phosphorus‐containing metabolites (HEP) in the basal ganglia and cerebellum of five male patients with XDP, 10 asymptomatic female heterozygous carriers, and 10 SVA‐insertion‐free controls. Results: HEP levels were reduced in the basal ganglia of patients with XDP (PwXDP) compared to controls, but increased in the cerebellum of both male patients and female carriers. Conclusions: Our findings suggest a potential compensatory mechanism in the cerebellum of female carriers regardless of sex. Our study highlights alterations in HEP levels in PwXDP patients and female carriers. [ABSTRACT FROM AUTHOR]

Published
2024
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3. Basal Ganglia Atrophy as a Marker for Prodromal X‐Linked Dystonia‐Parkinsonism

Author

Hanssen, Henrike, primary, Diesta, Cid C. E., additional, Heldmann, Marcus, additional, Dy, Jackson, additional, Tantianpact, Jeffrey, additional, Steinhardt, Julia, additional, Sauza, Rosanna, additional, Manalo, Hans T. S., additional, Sprenger, Andreas, additional, Reyes, Charles Jourdan, additional, Tuazon, Raphael, additional, Laabs, Björn‐Hergen, additional, Domingo, Aloysius, additional, Rosales, Raymond L., additional, Klein, Christine, additional, Münte, Thomas F., additional, Westenberger, Ana, additional, Oropilla, Jean Q., additional, and Brüggemann, Norbert, additional

Published
2023
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5. Expanding Data Collection for the MDSGene Database: X‐linked Dystonia‐Parkinsonism as Use Case Example

Author

Pauly, Martje G., primary, Ruiz López, Marta, additional, Westenberger, Ana, additional, Saranza, Gerard, additional, Brüggemann, Norbert, additional, Weissbach, Anne, additional, Rosales, Raymond L., additional, Diesta, Cid C., additional, Jamora, Roland D.G., additional, Reyes, Charles J., additional, Madoev, Harutyun, additional, Petkovic, Sonja, additional, Ozelius, Laurie J., additional, Klein, Christine, additional, and Domingo, Aloysius, additional

Published
2020
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6. Imaging gradual neurodegeneration in a basal ganglia model disease

Author

Hanssen, Henrike, primary, Prasuhn, Jannik, additional, Heldmann, Marcus, additional, Diesta, Cid C., additional, Domingo, Aloysius, additional, Göttlich, Martin, additional, Blood, Anne J., additional, Rosales, Raymond L., additional, Jamora, Roland D. G., additional, Münte, Thomas F., additional, Klein, Christine, additional, and Brüggemann, Norbert, additional

Published
2019
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7. Association of Pallidal Neurostimulation and Outcome Predictors With X-linked Dystonia Parkinsonism

Author

Brüggemann, Norbert, primary, Domingo, Aloysius, additional, Rasche, Dirk, additional, Moll, Christian K. E., additional, Rosales, Raymond L., additional, Jamora, Roland Dominic G., additional, Hanssen, Henrike, additional, Münchau, Alexander, additional, Graf, Julia, additional, Weissbach, Anne, additional, Tadic, Vera, additional, Diesta, Cid C., additional, Volkmann, Jens, additional, Kühn, Andrea, additional, Münte, Thomas F., additional, Tronnier, Volker, additional, and Klein, Christine, additional

Published
2019
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8. Basal ganglia and cerebellar pathology in X-linked dystonia-parkinsonism

Author

Hanssen, Henrike, primary, Heldmann, Marcus, additional, Prasuhn, Jannik, additional, Tronnier, Volker, additional, Rasche, Dirk, additional, Diesta, Cid C, additional, Domingo, Aloysius, additional, Rosales, Raymond L, additional, Jamora, Roland D, additional, Klein, Christine, additional, Münte, Thomas F, additional, and Brüggemann, Norbert, additional

Published
2018
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