Striatonigral involvement in Fabry Disease: A quantitative and volumetric Magnetic Resonance Imaging study

Camilla Russo, Giuseppe Pontillo, Antonio Pisani, Francesco Saccà, Eleonora Riccio, Antonio Macera, Giovanni Rusconi, Arnaldo Stanzione, Pasquale Borrelli, Vincenzo Brescia Morra, Enrico Tedeschi, Arturo Brunetti, Sirio Cocozza, Giuseppe Palma

Research output: Contribution to journalArticle

Abstract

Introduction: Aim of this study is to elucidate possible mechanisms of extrapyramidal damage in Fabry Disease (FD), a condition in which involvement of the motor system has been recently suggested, by simultaneously assessing morphometric and susceptibility changes of striatonigral pathway and their possible correlations with clinical variables. Methods: In this cross-sectional study, we investigated possible differences in terms of Quantitative Susceptibility Mapping (QSM) values and volumes of different extrapyramidal relays, including striatum and substantia nigra (SN), in 30 FD patients (M/F = 11/19, mean age 42.6 ± 12.2) and 37 healthy controls (HC) (M/F = 16/21, mean age 43.2 ± 14.6). Patients underwent a clinical examination for the study of different motor functions, and the relationship between MRI and clinical variables was tested using the Spearman's coefficient. Results: Compared to HC, FD patients showed an increase in susceptibility values of the SN (p < 0.001) and striatum (p = 0.001), while no difference emerged for the other tested extrapyramidal structures, suggesting their relative sparing. The increased susceptibility was coupled to a reduced volume of the SN (p < 0.001), but not of the striatum (p = 0.34). Finally, no significant correlation emerged when probing the relationship between these modifications and the clinical variables. Conclusion: In FD patients, susceptibility and volumetric alterations are present throughout the extrapyramidal pathway, with the SN being particularly affected by these changes. Such results are in line with the subtle extrapyramidal involvement recently suggested in FD, and could further contribute to the understanding of the physiopathological bases of cerebral involvement in FD.

Original languageEnglish
Pages (from-to)27-32
Number of pages6
JournalParkinsonism and Related Disorders
Volume57
DOIs
Publication statusPublished - Dec 1 2018

Fingerprint

Fabry Disease
Magnetic Resonance Imaging
Substantia Nigra
Disease Susceptibility
Cross-Sectional Studies

Keywords

  • Fabry disease
  • Magnetic Resonance Imaging
  • Quantitative Susceptibility Mapping
  • Substantia nigra

ASJC Scopus subject areas

  • Neurology
  • Geriatrics and Gerontology
  • Clinical Neurology

Cite this

Striatonigral involvement in Fabry Disease : A quantitative and volumetric Magnetic Resonance Imaging study. / Russo, Camilla; Pontillo, Giuseppe; Pisani, Antonio; Saccà, Francesco; Riccio, Eleonora; Macera, Antonio; Rusconi, Giovanni; Stanzione, Arnaldo; Borrelli, Pasquale; Brescia Morra, Vincenzo; Tedeschi, Enrico; Brunetti, Arturo; Cocozza, Sirio; Palma, Giuseppe.

In: Parkinsonism and Related Disorders, Vol. 57, 01.12.2018, p. 27-32.

Research output: Contribution to journalArticle

Russo, C, Pontillo, G, Pisani, A, Saccà, F, Riccio, E, Macera, A, Rusconi, G, Stanzione, A, Borrelli, P, Brescia Morra, V, Tedeschi, E, Brunetti, A, Cocozza, S & Palma, G 2018, 'Striatonigral involvement in Fabry Disease: A quantitative and volumetric Magnetic Resonance Imaging study', Parkinsonism and Related Disorders, vol. 57, pp. 27-32. https://doi.org/10.1016/j.parkreldis.2018.07.011
Russo, Camilla ; Pontillo, Giuseppe ; Pisani, Antonio ; Saccà, Francesco ; Riccio, Eleonora ; Macera, Antonio ; Rusconi, Giovanni ; Stanzione, Arnaldo ; Borrelli, Pasquale ; Brescia Morra, Vincenzo ; Tedeschi, Enrico ; Brunetti, Arturo ; Cocozza, Sirio ; Palma, Giuseppe. / Striatonigral involvement in Fabry Disease : A quantitative and volumetric Magnetic Resonance Imaging study. In: Parkinsonism and Related Disorders. 2018 ; Vol. 57. pp. 27-32.
@article{357c9dc7ff634c7e997fc48adf2a6c77,
title = "Striatonigral involvement in Fabry Disease: A quantitative and volumetric Magnetic Resonance Imaging study",
abstract = "Introduction: Aim of this study is to elucidate possible mechanisms of extrapyramidal damage in Fabry Disease (FD), a condition in which involvement of the motor system has been recently suggested, by simultaneously assessing morphometric and susceptibility changes of striatonigral pathway and their possible correlations with clinical variables. Methods: In this cross-sectional study, we investigated possible differences in terms of Quantitative Susceptibility Mapping (QSM) values and volumes of different extrapyramidal relays, including striatum and substantia nigra (SN), in 30 FD patients (M/F = 11/19, mean age 42.6 ± 12.2) and 37 healthy controls (HC) (M/F = 16/21, mean age 43.2 ± 14.6). Patients underwent a clinical examination for the study of different motor functions, and the relationship between MRI and clinical variables was tested using the Spearman's coefficient. Results: Compared to HC, FD patients showed an increase in susceptibility values of the SN (p < 0.001) and striatum (p = 0.001), while no difference emerged for the other tested extrapyramidal structures, suggesting their relative sparing. The increased susceptibility was coupled to a reduced volume of the SN (p < 0.001), but not of the striatum (p = 0.34). Finally, no significant correlation emerged when probing the relationship between these modifications and the clinical variables. Conclusion: In FD patients, susceptibility and volumetric alterations are present throughout the extrapyramidal pathway, with the SN being particularly affected by these changes. Such results are in line with the subtle extrapyramidal involvement recently suggested in FD, and could further contribute to the understanding of the physiopathological bases of cerebral involvement in FD.",
keywords = "Fabry disease, Magnetic Resonance Imaging, Quantitative Susceptibility Mapping, Substantia nigra",
author = "Camilla Russo and Giuseppe Pontillo and Antonio Pisani and Francesco Sacc{\`a} and Eleonora Riccio and Antonio Macera and Giovanni Rusconi and Arnaldo Stanzione and Pasquale Borrelli and {Brescia Morra}, Vincenzo and Enrico Tedeschi and Arturo Brunetti and Sirio Cocozza and Giuseppe Palma",
year = "2018",
month = "12",
day = "1",
doi = "10.1016/j.parkreldis.2018.07.011",
language = "English",
volume = "57",
pages = "27--32",
journal = "Parkinsonism and Related Disorders",
issn = "1353-8020",
publisher = "Elsevier BV",

}

TY - JOUR

T1 - Striatonigral involvement in Fabry Disease

T2 - A quantitative and volumetric Magnetic Resonance Imaging study

AU - Russo, Camilla

AU - Pontillo, Giuseppe

AU - Pisani, Antonio

AU - Saccà, Francesco

AU - Riccio, Eleonora

AU - Macera, Antonio

AU - Rusconi, Giovanni

AU - Stanzione, Arnaldo

AU - Borrelli, Pasquale

AU - Brescia Morra, Vincenzo

AU - Tedeschi, Enrico

AU - Brunetti, Arturo

AU - Cocozza, Sirio

AU - Palma, Giuseppe

PY - 2018/12/1

Y1 - 2018/12/1

N2 - Introduction: Aim of this study is to elucidate possible mechanisms of extrapyramidal damage in Fabry Disease (FD), a condition in which involvement of the motor system has been recently suggested, by simultaneously assessing morphometric and susceptibility changes of striatonigral pathway and their possible correlations with clinical variables. Methods: In this cross-sectional study, we investigated possible differences in terms of Quantitative Susceptibility Mapping (QSM) values and volumes of different extrapyramidal relays, including striatum and substantia nigra (SN), in 30 FD patients (M/F = 11/19, mean age 42.6 ± 12.2) and 37 healthy controls (HC) (M/F = 16/21, mean age 43.2 ± 14.6). Patients underwent a clinical examination for the study of different motor functions, and the relationship between MRI and clinical variables was tested using the Spearman's coefficient. Results: Compared to HC, FD patients showed an increase in susceptibility values of the SN (p < 0.001) and striatum (p = 0.001), while no difference emerged for the other tested extrapyramidal structures, suggesting their relative sparing. The increased susceptibility was coupled to a reduced volume of the SN (p < 0.001), but not of the striatum (p = 0.34). Finally, no significant correlation emerged when probing the relationship between these modifications and the clinical variables. Conclusion: In FD patients, susceptibility and volumetric alterations are present throughout the extrapyramidal pathway, with the SN being particularly affected by these changes. Such results are in line with the subtle extrapyramidal involvement recently suggested in FD, and could further contribute to the understanding of the physiopathological bases of cerebral involvement in FD.

AB - Introduction: Aim of this study is to elucidate possible mechanisms of extrapyramidal damage in Fabry Disease (FD), a condition in which involvement of the motor system has been recently suggested, by simultaneously assessing morphometric and susceptibility changes of striatonigral pathway and their possible correlations with clinical variables. Methods: In this cross-sectional study, we investigated possible differences in terms of Quantitative Susceptibility Mapping (QSM) values and volumes of different extrapyramidal relays, including striatum and substantia nigra (SN), in 30 FD patients (M/F = 11/19, mean age 42.6 ± 12.2) and 37 healthy controls (HC) (M/F = 16/21, mean age 43.2 ± 14.6). Patients underwent a clinical examination for the study of different motor functions, and the relationship between MRI and clinical variables was tested using the Spearman's coefficient. Results: Compared to HC, FD patients showed an increase in susceptibility values of the SN (p < 0.001) and striatum (p = 0.001), while no difference emerged for the other tested extrapyramidal structures, suggesting their relative sparing. The increased susceptibility was coupled to a reduced volume of the SN (p < 0.001), but not of the striatum (p = 0.34). Finally, no significant correlation emerged when probing the relationship between these modifications and the clinical variables. Conclusion: In FD patients, susceptibility and volumetric alterations are present throughout the extrapyramidal pathway, with the SN being particularly affected by these changes. Such results are in line with the subtle extrapyramidal involvement recently suggested in FD, and could further contribute to the understanding of the physiopathological bases of cerebral involvement in FD.

KW - Fabry disease

KW - Magnetic Resonance Imaging

KW - Quantitative Susceptibility Mapping

KW - Substantia nigra

UR - http://www.scopus.com/inward/record.url?scp=85050319231&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85050319231&partnerID=8YFLogxK

U2 - 10.1016/j.parkreldis.2018.07.011

DO - 10.1016/j.parkreldis.2018.07.011

M3 - Article

C2 - 30054181

AN - SCOPUS:85050319231

VL - 57

SP - 27

EP - 32

JO - Parkinsonism and Related Disorders

JF - Parkinsonism and Related Disorders

SN - 1353-8020

ER -