HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Cerebello-cerebral connectivity deficits in Friedreich ataxia.

Abstract
Brain pathology in Friedreich ataxia is characterized by progressive degeneration of nervous tissue in the brainstem, cerebellum and cerebellar peduncles. Evidence of cerebral involvement is however equivocal. This brain imaging study investigates cerebello-cerebral white matter connectivity in Friedreich ataxia with diffusion MRI and tractography performed in 13 individuals homozygous for a GAA expansion in intron one of the frataxin gene and 14 age- and gender-matched control participants. New evidence is presented for disrupted cerebello-cerebral connectivity in the disease, leading to secondary effects in distant cortical and subcortical regions. Remote regions affected by primary cerebellar and brainstem pathology include the supplementary motor area, cingulate cortex, frontal cortices, putamen and other subcortical nuclei. The connectivity disruptions identified provide an explanation for some of the non-ataxic symptoms observed in the disease and support the notion of reverse cerebellar diaschisis. This is the first study to comprehensively map white matter connectivity disruptions in Friedreich ataxia using tractography, connectomic techniques and super-resolution track density imaging.
AuthorsAndrew Zalesky, Hamed Akhlaghi, Louise A Corben, John L Bradshaw, Martin B Delatycki, Elsdon Storey, Nellie Georgiou-Karistianis, Gary F Egan
JournalBrain structure & function (Brain Struct Funct) Vol. 219 Issue 3 Pg. 969-81 (May 2014) ISSN: 1863-2661 [Electronic] Germany
PMID23563750 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Topics
  • Adult
  • Brain Stem (pathology)
  • Cerebellum (pathology)
  • Female
  • Friedreich Ataxia (pathology)
  • Gyrus Cinguli (pathology)
  • Humans
  • Image Processing, Computer-Assisted
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Nerve Net (pathology)
  • White Matter (pathology)
  • Young Adult

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: