scholarly journals Neurodegeneration in friedreich's ataxia is associated with a mixed activation pattern of the brain. A fMRI study

2011 ◽  
Vol 33 (8) ◽  
pp. 1780-1791 ◽  
Author(s):  
Andrea Ginestroni ◽  
Stefano Diciotti ◽  
Paolo Cecchi ◽  
Ilaria Pesaresi ◽  
Carlo Tessa ◽  
...  
Author(s):  
R.J. Huxtable ◽  
P. Johnson ◽  
S.E. Lippincott ◽  
A. Barbeau

ABSTRACT:Free amino acid levels and zinc, magnesium and calcium content have been determined in autopsy samples of 9 areas of the brain, two skeletal muscles, and the right ventricle, left ventricle and septum of the heart of a Friedreich's ataxia subject.


2014 ◽  
Vol 27 (1) ◽  
pp. 27-36 ◽  
Author(s):  
Hanani Abdul Manan ◽  
Elizabeth A. Franz ◽  
Ahmad Nazlim Yusoff ◽  
Siti Zamratol-Mai Sarah Mukari

1986 ◽  
Vol 25 (2) ◽  
pp. 84-91 ◽  
Author(s):  
E. Cassandro ◽  
F. Mosca ◽  
L. Sequino ◽  
F. A. De Falco ◽  
G. Campanella

Author(s):  
H.F. Gattiker ◽  
A. Davignon ◽  
A. Bozio ◽  
J. Batlle-Diaz ◽  
G. Geoffroy ◽  
...  

SUMMARY:Echocardiographic examination of 21 patients with Friedreich's ataxia (age 7 to 28 years) showed cardiac abnormalities in 90% of the cases. They were characterized by varying degrees of septal hypertrophy in 81%, left ventricular free wall hypertrophy in 61%, and a slight reduction of left ventricular internal dimension in 57% of the cases. Asymmetric septal hypertrophy (ASH) with a septal/left ventricular free wall ratio of over 1.3 was found in 29% of the cases, and systolic anterior motion (SAM) of the mitral valve in three patients. Two other patients showed evidence of a different type of cardiomyopathy with marked symmetric left ventricular hypertrophy and marked left ventricular enlargement.


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