Evidence for genetically determined degeneration of proprioceptive tracts in Friedreich ataxia

Research output: Contribution to journalArticleScientificpeer-review

Standard

Evidence for genetically determined degeneration of proprioceptive tracts in Friedreich ataxia. / Marty, Brice; Gilles, Naeije; Bourguignon, Mathieu; Wens, Vincent; Jousmäki, Veikko; Lynch, David R; Gaetz, William; Goldman, Serge; Hari, Riitta; Pandolfo, Massimo; De Tiège, Xavier.

In: Neurology, Vol. 93, No. 2, 09.07.2019, p. e116-e124.

Research output: Contribution to journalArticleScientificpeer-review

Harvard

Marty, B, Gilles, N, Bourguignon, M, Wens, V, Jousmäki, V, Lynch, DR, Gaetz, W, Goldman, S, Hari, R, Pandolfo, M & De Tiège, X 2019, 'Evidence for genetically determined degeneration of proprioceptive tracts in Friedreich ataxia' Neurology, vol. 93, no. 2, pp. e116-e124. https://doi.org/10.1212/WNL.0000000000007750

APA

Marty, B., Gilles, N., Bourguignon, M., Wens, V., Jousmäki, V., Lynch, D. R., ... De Tiège, X. (2019). Evidence for genetically determined degeneration of proprioceptive tracts in Friedreich ataxia. Neurology, 93(2), e116-e124. https://doi.org/10.1212/WNL.0000000000007750

Vancouver

Author

Marty, Brice ; Gilles, Naeije ; Bourguignon, Mathieu ; Wens, Vincent ; Jousmäki, Veikko ; Lynch, David R ; Gaetz, William ; Goldman, Serge ; Hari, Riitta ; Pandolfo, Massimo ; De Tiège, Xavier. / Evidence for genetically determined degeneration of proprioceptive tracts in Friedreich ataxia. In: Neurology. 2019 ; Vol. 93, No. 2. pp. e116-e124.

Bibtex - Download

@article{9958017ecd804d8ab55dd7e9d7bb497c,
title = "Evidence for genetically determined degeneration of proprioceptive tracts in Friedreich ataxia",
abstract = "OBJECTIVE: To assess with magnetoencephalography the developmental vs progressive character of the impairment of spinocortical proprioceptive pathways in Friedreich ataxia (FRDA).METHODS: Neuromagnetic signals were recorded from 16 right-handed patients with FRDA (9 female patients, mean age 27 years, mean Scale for the Assessment and Rating Of ataxia [SARA] score 22.25) and matched healthy controls while they performed right finger movements either actively or passively. The coupling between movement kinematics (i.e., acceleration) and neuromagnetic signals was assessed by the use of coherence at sensor and source levels. Such coupling, that is, the corticokinematic coherence (CKC), specifically indexes proprioceptive afferent inputs to the contralateral primary sensorimotor (cSM1) cortex. Nonparametric permutations and Spearman rank correlation test were used for statistics.RESULTS: In both groups of participants and movement conditions, significant coupling peaked at the cSM1 cortex. Coherence levels were 70{\%} to 75{\%} lower in patients with FRDA than in healthy controls in both movement conditions. In patients with FRDA, coherence levels correlated with genotype alteration (i.e., the size of GAA1 triplet expansion) and the age at symptom onset but not with disease duration or SARA score.CONCLUSION: This study provides electrophysiologic evidence demonstrating that proprioceptive impairment in FRDA is mostly genetically determined and scarcely progressive after symptom onset. It also positions CKC as a reliable, robust, specific marker of proprioceptive impairment in FRDA.",
keywords = "Friedreich ataxia, human, MEG, Corticokinematic coherence",
author = "Brice Marty and Naeije Gilles and Mathieu Bourguignon and Vincent Wens and Veikko Jousm{\"a}ki and Lynch, {David R} and William Gaetz and Serge Goldman and Riitta Hari and Massimo Pandolfo and {De Ti{\`e}ge}, Xavier",
year = "2019",
month = "7",
day = "9",
doi = "10.1212/WNL.0000000000007750",
language = "English",
volume = "93",
pages = "e116--e124",
journal = "Neurology",
issn = "0028-3878",
publisher = "Lippincott Williams and Wilkins",
number = "2",

}

RIS - Download

TY - JOUR

T1 - Evidence for genetically determined degeneration of proprioceptive tracts in Friedreich ataxia

AU - Marty, Brice

AU - Gilles, Naeije

AU - Bourguignon, Mathieu

AU - Wens, Vincent

AU - Jousmäki, Veikko

AU - Lynch, David R

AU - Gaetz, William

AU - Goldman, Serge

AU - Hari, Riitta

AU - Pandolfo, Massimo

AU - De Tiège, Xavier

PY - 2019/7/9

Y1 - 2019/7/9

N2 - OBJECTIVE: To assess with magnetoencephalography the developmental vs progressive character of the impairment of spinocortical proprioceptive pathways in Friedreich ataxia (FRDA).METHODS: Neuromagnetic signals were recorded from 16 right-handed patients with FRDA (9 female patients, mean age 27 years, mean Scale for the Assessment and Rating Of ataxia [SARA] score 22.25) and matched healthy controls while they performed right finger movements either actively or passively. The coupling between movement kinematics (i.e., acceleration) and neuromagnetic signals was assessed by the use of coherence at sensor and source levels. Such coupling, that is, the corticokinematic coherence (CKC), specifically indexes proprioceptive afferent inputs to the contralateral primary sensorimotor (cSM1) cortex. Nonparametric permutations and Spearman rank correlation test were used for statistics.RESULTS: In both groups of participants and movement conditions, significant coupling peaked at the cSM1 cortex. Coherence levels were 70% to 75% lower in patients with FRDA than in healthy controls in both movement conditions. In patients with FRDA, coherence levels correlated with genotype alteration (i.e., the size of GAA1 triplet expansion) and the age at symptom onset but not with disease duration or SARA score.CONCLUSION: This study provides electrophysiologic evidence demonstrating that proprioceptive impairment in FRDA is mostly genetically determined and scarcely progressive after symptom onset. It also positions CKC as a reliable, robust, specific marker of proprioceptive impairment in FRDA.

AB - OBJECTIVE: To assess with magnetoencephalography the developmental vs progressive character of the impairment of spinocortical proprioceptive pathways in Friedreich ataxia (FRDA).METHODS: Neuromagnetic signals were recorded from 16 right-handed patients with FRDA (9 female patients, mean age 27 years, mean Scale for the Assessment and Rating Of ataxia [SARA] score 22.25) and matched healthy controls while they performed right finger movements either actively or passively. The coupling between movement kinematics (i.e., acceleration) and neuromagnetic signals was assessed by the use of coherence at sensor and source levels. Such coupling, that is, the corticokinematic coherence (CKC), specifically indexes proprioceptive afferent inputs to the contralateral primary sensorimotor (cSM1) cortex. Nonparametric permutations and Spearman rank correlation test were used for statistics.RESULTS: In both groups of participants and movement conditions, significant coupling peaked at the cSM1 cortex. Coherence levels were 70% to 75% lower in patients with FRDA than in healthy controls in both movement conditions. In patients with FRDA, coherence levels correlated with genotype alteration (i.e., the size of GAA1 triplet expansion) and the age at symptom onset but not with disease duration or SARA score.CONCLUSION: This study provides electrophysiologic evidence demonstrating that proprioceptive impairment in FRDA is mostly genetically determined and scarcely progressive after symptom onset. It also positions CKC as a reliable, robust, specific marker of proprioceptive impairment in FRDA.

KW - Friedreich ataxia

KW - human

KW - MEG

KW - Corticokinematic coherence

UR - http://www.scopus.com/inward/record.url?scp=85069295068&partnerID=8YFLogxK

U2 - 10.1212/WNL.0000000000007750

DO - 10.1212/WNL.0000000000007750

M3 - Article

VL - 93

SP - e116-e124

JO - Neurology

JF - Neurology

SN - 0028-3878

IS - 2

ER -

ID: 35077755