Corticospinal Tract Involvement in a Patient With 3-HMG Coenzyme A Lyase Deficiency

2006 ◽  
Vol 35 (2) ◽  
pp. 139-141 ◽  
Author(s):  
Yüksel Yýlmaz ◽  
Nihal Özdemir ◽  
Gazanfer Ekinci ◽  
Tolunay Baykal ◽  
Canan Kocaman
1986 ◽  
Vol 9 (3) ◽  
pp. 225-233 ◽  
Author(s):  
S. J. Wysocki ◽  
R. Hähnel
Keyword(s):  

2020 ◽  
Author(s):  
Bruno Shigueo Yonekura Inada ◽  
Thiago Junqueira Ribeiro Rezende ◽  
Fernando Vieira Pereira ◽  
Lucas Ávila Lessa Garcia ◽  
Antônio José da Rocha ◽  
...  

1988 ◽  
Vol 11 (1) ◽  
pp. 76-87 ◽  
Author(s):  
K. M. Gibson ◽  
J. Breuer ◽  
K. Kaiser ◽  
W. L. Nyhan ◽  
E. E. McCoy ◽  
...  
Keyword(s):  

2008 ◽  
Vol 100 (6) ◽  
pp. 3437-3444 ◽  
Author(s):  
Hideyuki Matsumoto ◽  
Ritsuko Hanajima ◽  
Masashi Hamada ◽  
Yasuo Terao ◽  
Akihiro Yugeta ◽  
...  

Magnetic stimulation with a double-cone-coil over the back of the head activates the motor tracts at the level of pyramidal decussation (brain stem stimulation [BST]). However, single-pulse BST (single BST) sometimes cannot elicit motor-evoked potentials (MEPs) in patients with corticospinal tract involvement. We developed a technique using double-pulse BST (double BST) to elicit MEPs even in patients whose threshold is abnormally elevated. Subjects were 11 healthy volunteers and 12 patients with corticospinal tract involvement in whom single BST evoked no discernible MEP. Double BST was performed at the intensities of resting and active motor threshold for single BST; MEPs were recorded from the first dorsal interosseous muscle. Interstimulus intervals (ISIs) between two pulses were 1.5, 2, 3, 5, and 10 ms in healthy subjects. Double BST enlarged MEPs at ISIs of 1.5–5 ms with a peak at 2 ms in the relaxed condition, but not in the active condition. At an ISI of 2 ms in the relaxed condition, the MEP amplitude was 15 times as large as that to single BST in relaxed muscles. The onset latency of the enlarged MEP from the second pulse in relaxed muscles was the same as that by single BST in active muscles. Double BST at a 2-ms interval elicited MEPs in eight patients. Double BST can enhance MEPs probably by temporal summations of excitatory postsynaptic potentials at the spinal motoneurons. Using this new technique, we can obtain more information about the central motor conduction even when single BST fails to elicit any MEP.


2018 ◽  
Vol 6 ◽  
pp. 232640981879736
Author(s):  
Jörn Oliver Sass ◽  
Malkanthi Fernando ◽  
Sidney Behringer
Keyword(s):  

1989 ◽  
Vol 12 (3) ◽  
pp. 341-342 ◽  
Author(s):  
S. W. Moses ◽  
M. Aviram ◽  
R. Geiger ◽  
R. Berger ◽  
P. C. Smit
Keyword(s):  

2001 ◽  
Vol 33 (3) ◽  
pp. 339-341 ◽  
Author(s):  
Nafiye Urganç ◽  
Müjde Arapoğlu ◽  
Merih Evrüke ◽  
Ahmet Aydin
Keyword(s):  

2016 ◽  
Vol 7 ◽  
pp. JCM.S40470 ◽  
Author(s):  
Ayumi Yoshimura ◽  
Tetsuya Kibe ◽  
Kaori Irahara ◽  
Norio Sakai ◽  
Kenji Yokochi

A case of late-infantile Krabbe disease in a patient who presented with developmental regression and spastic quadriplegia in late infancy is reported. Brain magnetic resonance imaging (MRI) at 11 months of age showed predominant corticospinal tract involvement, which usually appears in adult Krabbe disease. Galactocerebrosidase activity in lymphocytes and skin fibroblasts was very low. Genetic testing revealed compound heterozygous mutations of the galactocerebrosidase ( GALC) gene, c.635_646 delinsCTC and c.1901T>C [p.L618S], both of which are known pathogenic mutations. It has been reported that the c.1901T>C [p.L618S] mutation is associated with the late-onset phenotype and, in a past case, a homozygous mutation at this location showed predominant corticospinal tract involvement on MRI. Although further analysis is needed to identify the pathophysiological mechanism, this combination of mutations is likely to be associated with this unusual MRI finding in late-infantile Krabbe disease. Because these types of mutations are common for Japanese patients, it is possible that there are more undiagnosed and late-diagnosed patients of late-infantile Krabbe disease who display limited lesions on MRI. Pediatricians should be aware that patients with late-infantile Krabbe disease can present with predominant corticospinal tract involvement on MRI.


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