Superior cerebellar peduncle atrophy in Friedreich's ataxia correlates with disease symptoms

H Akhlaghi; L Corben; N Georgiou-Karistianis; J Bradshaw; E Storey; MB Delatycki; GF Egan

Journal article

Superior cerebellar peduncle atrophy in Friedreich's ataxia correlates with disease symptoms

H Akhlaghi, L Corben, N Georgiou-Karistianis, J Bradshaw, E Storey, MB Delatycki, GF Egan

Cerebellum | SPRINGER | Published : 2011

DOI: 10.1007/s12311-010-0232-3

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-s..

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University of Melbourne Researchers

Hamed Akhlaghi Author

Louise Corben Author

Martin Delatycki Author

Grants

Funding Acknowledgements

[ "We thank the participants for taking part in this study. This study was supported by funding from the Friedreich Ataxia Research Association (Australasia), Friedreich Ataxia Research Alliance (USA) and Murdoch Childrens Research Institute. HA received a Melbourne International fee remission scholarship and a Melbourne International Research scholarship. MBD is an NHMRC practitioner fellow. GFE is an NHMRC research fellow.", "Dr. Hamed Akhlaghi received a Melbourne International Fee Remission Scholarship and a Melbourne International Research Scholarship.", "Professor Elsdon Storey has received honoraria (payable to his institution) from Pfizer for lecturing on non-drug-related issues at an education course. He is a co-investigator on an NIH trial for which Merck is providing active drug (aspirin and placebo). Professor Martin B. Delatycki is associate editor for BMC Neurology; he receives grants from NHMRC, Friedreich Ataxia Research Alliance, Friedreich Ataxia Research Association, and he is on the Pfizer Australia Neuroscience Grant Panel." ]