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Ataxia of Charlevoix-Saguenay: MR and Clinical Results in Lower-Limb Musculature

Published online by Cambridge University Press:  23 September 2014

José Gazulla ,
Esteban Mayayo-Sinués ,
Isabel Benavente ,
Pedro J. Modrego  and
José Berciano
José Gazulla*
Affiliation:
Department of Neurology, Hospital Universitario Miguel Servet, Zaragoza
Esteban Mayayo-Sinués
Affiliation:
Department of Radiology Hospital Universitario Miguel Servet, Zaragoza
Isabel Benavente
Affiliation:
Department of Clinical Neurophysiology Hospital San Jorge, Huesca
Pedro J. Modrego
Affiliation:
Department of Neurology, Hospital Universitario Miguel Servet, Zaragoza
José Berciano
Affiliation:
Department of Neurology, University Hospital Marqués de Valdecilla and Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Santander, Spain
*
Luis Vives 6, esc dcha, 7ºB, 50006 Zaragoza, Spain. Email address: josegazulla@wanadoo.es.
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Abstract

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Objective:

Peripheral neuropathy is a cardinal manifestation of the autosomal recessive spastic ataxia of Charlevoix- Saguenay (ARSACS), although its type of neuromuscular involvement has not been definitely established, and magnetic resonance imaging (MRI) plays an important role in the assessment of muscle and nerve diseases. The objective of this work has been to define the patterns of muscle weakness and of abnormal muscular MRI in ARSACS.

Patients and Methods:

Five patients with a molecular diagnosis of ARSACS, aged 39 to 59 years, whose electrophysiological findings were consistent with an axonal neuropathy of distal distribution superimposed on a developmental defect of myelinization, underwent neurological and MRI lower-limb examinations. Conventional FSE T1-weighted and STIR sequences were performed, looking for fatty infiltration and oedema in the musculature of the thighs, legs and feet, together with their distribution along the longitudinal axis of the muscle bellies.

Results:

On clinical examination, paralysis was apparent in foot muscles; moderate weakness, in leg musculature; and normal strength, in thigh muscles. MRI demonstrated massive fat deposition in the foot muscles and medial gastrocnemii in every case, distal fat infiltration and oedema in every leg muscle group, and preservation of thigh muscles, albeit with diffuse minimal non-specific fat infiltration. An inverse correlation between strength and degree of fat infiltration in lower-limb muscles became apparent.

Conclusion:

The preponderance of weakness and MRI abnormalities in distal muscle groups was concordant with the presence of a length-dependent axonopathy, as described in ARSACS.

Résumé

RÉSUMÉ

Ataxie de Charlevoix-Saguenay : IRM et observations cliniques au niveau de la musculature des membres inférieurs.

Objectif:

La neuropathie périphérique est une manifestation cardinale de l'ataxie spastique de Charlevoix-Saguenay (ARSACS), une maladie récessive autosomique. Cependant, le type d'atteinte neuromusculaire n'a pas été établi avec certitude et l'imagerie par résonance magnétique (IRM) joue un rôle important dans l'évaluation des maladies des muscles et des nerfs. Le but de cette étude était de défmir les caractéristiques de la faiblesse musculaire et des anomalies musculaires observées à l'IRM dans l'ARSACS.

Méthode:

Cinq patients atteints d'ARSACS, dont l'âge variait de 39 à 59 ans et dont le diagnostic avait été confirmé par la biologie moléculaire et chez qui les constatations électrophysiologiques étaient compatibles avec une neuropathie axonale à distribution distale superposée à un défaut du développement de la myélinisation, ont subi un examen neurologique et une IRM des membres inférieurs. Nous avons recherché sur les séquences conventionnelles FSE en pondération Ti et STIR une infiltration graisseuse et un oedème dans la musculature des cuisses, des jambes et des pieds ainsi que la distribution le long de l'axe longitudinal du ventre des muscles.

Résultats:

À l'examen clinique, la paralysie était évidente au niveau des muscles du pied ainsi qu'une faiblesse modérée de la musculature de la jambe et une force normale au niveau des muscles de la cuisse. L'IRM a montré des dépôts adipeux importants dans les muscles du pied et la partie moyenne des gastrocnémiens chez tous les patients, une infiltration adipeuse distale et de l'oedème dans tous les groupes musculaires des jambes ainsi qu'une préservation des muscles de la cuisse avec cependant une infiltration graisseuse minimale et diffuse, mais non spécifique. Une corrélation négative entre la force et le degré d'infiltration graisseuse dans les muscles des membres inférieurs a été mise en évidence.

Conclusion:

La prépondérance de la faiblesse et les anomalies à l'IRM au niveau des groupes musculaires distaux concordaient avec la présence d'une axonopathie qui était fonction de la longueur de l'axone, tel que décrit dans l'ARSACS.

Type
Original Articles
Information
Canadian Journal of Neurological Sciences , Volume 41 , Issue 1 , January 2014 , pp. 37 - 41
Copyright
Copyright © The Canadian Journal of Neurological 2014

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