Karen A.G. Takazaki, Thiago Junqueira R. Rezende, Alberto R.M. Martinez, Carelis González, Anamarli Nucci, Iscia Lopes-Cendes, Marcondes C. França, Sudomotor dysfunction is frequent and correlates with disability in Friedreich ataxia, Clinical Neurophysiology, 2018, doi:10.1016/j.clinph.2018.08.017.
We found abnormal sudomotor but normal heart rate variability in FRDA. Small cholinergic post-ganglionic fibers are affected in the disease.
Friday, August 31, 2018
Friedreich’s Ataxia: Clinical Presentation of a Compound Heterozygote Child with a Rare Nonsense Mutation and Comparison with Previously Published Cases
Vamshi K. Rao, Christine J. DiDonato and Paul D. Larsen; Case Reports in Neurological Medicine Volume 2018, Article ID 8587203, 5 pages doi:10.1155/2018/8587203
In conclusion, if the index of suspicion is high for Friedrich’s ataxia then frataxin sequencing should be performed if there is a repeat expansion detected only on one allele. Secondly, for the most part, compound heterozygous patients have an earlier age of onset that directly correlates with the trinucleotide expansion size. Finally, whether there is a unique phenotype to the nonsense mutations requires further study before counseling families regarding natural history of disease.
In conclusion, if the index of suspicion is high for Friedrich’s ataxia then frataxin sequencing should be performed if there is a repeat expansion detected only on one allele. Secondly, for the most part, compound heterozygous patients have an earlier age of onset that directly correlates with the trinucleotide expansion size. Finally, whether there is a unique phenotype to the nonsense mutations requires further study before counseling families regarding natural history of disease.
Magnetic susceptibility of the dentate in a longitudinal study of Friedreich ataxia
Phillip G D Ward, Ian H Harding, Parnesh Raniga, Tom G Close, Louise A Corben, Martin B Delatycki, Monique R Stagnitti, Elsdon Storey, Nellie Georgiou-Karistianis, and Gary F Egan; International Society for Magnetic Resonance in Medicine, (Abstract #3731) 16-21 June 2018 Paris (France)
We performed in-vivo measurements of the magnetic susceptibility in the dentate nucleus in individuals with Friedreich ataxia and healthy controls over a two-year longitudinal study using quantitative susceptibility mapping. The results show a significant susceptibility difference between individuals with Friedreich ataxia and control subjects, and a strong correlation with disease severity in the Friedreich ataxia cohort. These findings may lead to the development of a sensitive biomarker of disease severity and progression in Friedreich ataxia.
We performed in-vivo measurements of the magnetic susceptibility in the dentate nucleus in individuals with Friedreich ataxia and healthy controls over a two-year longitudinal study using quantitative susceptibility mapping. The results show a significant susceptibility difference between individuals with Friedreich ataxia and control subjects, and a strong correlation with disease severity in the Friedreich ataxia cohort. These findings may lead to the development of a sensitive biomarker of disease severity and progression in Friedreich ataxia.
Regional cortical folding morphometry in Friedreich ataxia using Laplace Beltrami based gyrification index
Rosita Shishegar, Imis Dogan, Martin B. Delatycki, Gary F. Egan, Elsdon Storey, Louise A. Corben, and Nellie Georgiou-Karistianis; International Society for Magnetic Resonance in Medicine, (Abstract #3616) 16-21 June 2018 Paris (France)
Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder mainly affecting the spinal cord and dentate nuclei of the cerebellum. Although there is growing evidence of cerebral atrophy and cortical thinning in FRDA, no research has investigated the pattern of cortical folding (gyrification) in the disorder. We have proposed a new MRI analysis technique, Laplace Beltrami based gyrification index (LB-GI), and validated its use in individuals with FRDA. Preliminary results reveal significantly increased regional gyrification in the motor cortex in individuals with FRDA, compared to healthy controls. Overall, our results demonstrate that LB-GI is a sensitive technique which requires further investigation as a potential neuroimaging marker of disease progression in FRDA.
Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder mainly affecting the spinal cord and dentate nuclei of the cerebellum. Although there is growing evidence of cerebral atrophy and cortical thinning in FRDA, no research has investigated the pattern of cortical folding (gyrification) in the disorder. We have proposed a new MRI analysis technique, Laplace Beltrami based gyrification index (LB-GI), and validated its use in individuals with FRDA. Preliminary results reveal significantly increased regional gyrification in the motor cortex in individuals with FRDA, compared to healthy controls. Overall, our results demonstrate that LB-GI is a sensitive technique which requires further investigation as a potential neuroimaging marker of disease progression in FRDA.
BRAIN FUNCTIONAL CHANGES CORRELATE WITH COGNITIVE DYSFUNCTION IN FRIEDREICH'S ATAXIA: AN RS-fMRI STUDY
Sirio Cocozza, Teresa Costabile, Enrico Tedeschi, Filomena Abate, Camilla Russo, Agnese Liguori, Walter Del Vecchio, Francesca Paciello, Mario Quarantelli, Alessandro Filla, Francesco Saccà, and Arturo Brunetti; International Society for Magnetic Resonance in Medicine, (Abstract #4670) 16-21 June 2018 Paris (France)
We performed a seed-based Resting-State fMRI analysis in Friedreich’s Ataxia (FRDA) patients to assess possible brain functional connectivity (FC) changes in these patients, which are know to be charactherized by an impairment of neuropsychological functions. We found an increased FC in FRDA patients compared to controls in different brain regions, including the medial frontal gryrus, the angular gyri and cingulate gyrus, with a decreased cerebellar FC. Our findings of diffuse alterations of FC in FRDA patients compared to controls may shed new light on the pattern of supratentorial and infratentorial involvement and on dynamics of brain plasticity in this condition.
We performed a seed-based Resting-State fMRI analysis in Friedreich’s Ataxia (FRDA) patients to assess possible brain functional connectivity (FC) changes in these patients, which are know to be charactherized by an impairment of neuropsychological functions. We found an increased FC in FRDA patients compared to controls in different brain regions, including the medial frontal gryrus, the angular gyri and cingulate gyrus, with a decreased cerebellar FC. Our findings of diffuse alterations of FC in FRDA patients compared to controls may shed new light on the pattern of supratentorial and infratentorial involvement and on dynamics of brain plasticity in this condition.
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