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The Cerebellum
Published in: The Cerebellum 1/2011

01-03-2011

Superior Cerebellar Peduncle Atrophy in Friedreich’s Ataxia Correlates with Disease Symptoms

Authors: Hamed Akhlaghi, Louise Corben, Nellie Georgiou-Karistianis, John Bradshaw, Elsdon Storey, Martin B. Delatycki, Gary F. Egan

Published in: The Cerebellum | Issue 1/2011

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Abstract

Friedreich’s ataxia (FRDA) is the most common early onset inherited ataxia with clinical manifestations, including gradual progression of unremitting cerebellar–sensory ataxia, peripheral sensory loss, loss of lower limb tendon reflexes and hypertrophic cardiomyopathy. Although atrophy of the superior cerebellar peduncle (SCP) has been reported in several magnetic resonance imaging (MRI) studies of FRDA, the relationship of SCP changes to genetic and clinical features of FRDA has not been investigated. We acquired T1-weighted MRI scans in 12 right-handed individuals with FRDA, homozygous for a GAA expansion in intron 1 of FXN, as well as 13 healthy age-matched controls. The corrected cross-sectional areas of the right (left) SCP in the individuals with FRDA (R, 20 ± 7.9 mm2; L, 25 ± 5.6 mm2) were significantly smaller than for controls (R, 68 ± 16 mm2; L, 78 ± 17 mm2) (p < 0.001). The SCP volumes of individuals with FRDA were negatively correlated with Friedreich’s ataxia rating scale score (r = −0.553) and disease duration (r = −0.541), and positively correlated with the age of onset (r = 0.548) (p < 0.05). These findings suggest that structural MR imaging of the SCP can provide a surrogate marker of disease severity in FRDA and support the potential role of structural MRI as a biomarker in the evaluation of neurodegenerative diseases and therapies.
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Metadata
Title
Superior Cerebellar Peduncle Atrophy in Friedreich’s Ataxia Correlates with Disease Symptoms
Authors
Hamed Akhlaghi
Louise Corben
Nellie Georgiou-Karistianis
John Bradshaw
Elsdon Storey
Martin B. Delatycki
Gary F. Egan
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/s12311-010-0232-3

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