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01-03-2011

Restless Legs and Substantia Nigra Hypoechogenicity are Common Features in Friedreich’s Ataxia

Authors: Matthis Synofzik, Jana Godau, Tobias Lindig, Ludger Schöls, Daniela Berg

Published in: The Cerebellum | Issue 1/2011

Abstract

Friedreich’s ataxia (FA) is a multisystemic degenerative disease, but the prevalence of restless legs syndrome (RLS) is unknown. FA patients might be particularly susceptible to develop RLS as FA presents with features commonly associated with RLS, e.g. multisystemic network dysfunction, peripheral neuropathy and disturbances in subcellular brain iron homeostasis. In this work, we assessed the following: (1) the prevalence of RLS; (2) the prevalence of sonographic hypoechogenicity of the substantia nigra (SN), which is known to be associated with idiopathic RLS; and (3) the relation between both in 28 FA patients. Thirty-two percent of the patients suffered from RLS, thus clearly exceeding the prevalence rate in the general population. SN hypoechogenicity was more frequent in FA patients (61%) compared to healthy controls (7%) and was significantly associated with RLS. However, as SN echogenicity also correlated inversely with disease severity, it seems to be related not only to RLS, but also to the neurodegenerative process in FA itself. The high prevalence of RLS in FA patients warrants specific assessment by neurologists involved in the care of FA patients as treatments are readily available. Similar to patients with idiopathic RLS, reduced SN echogenicity is a frequent finding in FA, possibly indicating regional changes in subcellular brain iron regulation in FA.

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Title: Restless Legs and Substantia Nigra Hypoechogenicity are Common Features in Friedreich’s Ataxia
Authors: Matthis Synofzik
Jana Godau
Tobias Lindig
Ludger Schöls
Daniela Berg
Publication date: 01-03-2011
Publisher: Springer-Verlag
Published in: The Cerebellum / Issue 1/2011
Print ISSN: 1473-4222
Electronic ISSN: 1473-4230
DOI: https://doi.org/10.1007/s12311-010-0215-4

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Restless Legs and Substantia Nigra Hypoechogenicity are Common Features in Friedreich’s Ataxia

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

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