scholarly journals Cystic changes in internal capsule in early-onset Krabbe disease

2014 ◽  
Vol 2 (4) ◽  
pp. 124-125
Author(s):  
Arushi Gahlot Saini ◽  
Renu Suthar ◽  
Naveen Sankhyan ◽  
Pratibha Singhi ◽  
Sameer Vyas
Keyword(s):  
Early Onset ◽  
Internal Capsule ◽  
Krabbe Disease ◽  
Cystic Changes

scholarly journals Quantitative DTI metrics in a canine model of Krabbe disease: comparisons versus age-matched controls across multiple ages

2018 ◽  
Vol 31 (2) ◽  
pp. 168-176 ◽  
Author(s):  
Jonathan Y Li ◽  
Dana M Middleton ◽  
Steven Chen ◽  
Leonard White ◽  
Carley R Corado ◽  
...  
Keyword(s):  
Fractional Anisotropy ◽  
Diffusion Tensor ◽  
Region Of Interest ◽  
Internal Capsule ◽  
Canine Model ◽  
Krabbe Disease ◽  
Radial Diffusivity ◽  
Centrum Semiovale ◽  
Pelvic Limb ◽  
Normal Controls

Purpose The purpose of this study was to compare quantitative diffusion tensor imaging metrics in dogs affected with a model of Krabbe disease to age-matched normal controls. We hypothesized that fractional anisotropy would be decreased and radial diffusivity would be increased in the Krabbe dogs. Methods We used a highly reproducible region-of-interest interrogation technique to measure fractional anisotropy and radial diffusivity in three different white matter regions within the internal capsule and centrum semiovale in four Krabbe affected brains and three age-matched normal control brains. Results Despite all four Krabbe dogs manifesting pelvic limb paralysis at the time of death, age-dependent differences in DTI metrics were observed. In the 9, 12, and 14 week old Krabbe dogs, FA values unexpectedly increased and RD values decreased. FA values were generally higher and RD values generally lower in both regions of the internal capsule in the Krabbe brains during this period. FA values in the brain from the 16 week old Krabbe dog decreased and were lower than in control brains and RD values increased and were higher than in control brain. Conclusion Our findings suggest that FA and RD in the internal capsule and centrum semiovale are affected differently at different ages, despite disease having progressed to pelvic limb paralysis in all dogs evaluated. In 9, 12, and 14 week old Krabbe dogs, higher FA values and lower RD values are seen in the internal capsule. However, in the 16 week old Krabbe dog, lower FA and higher RD values are seen, consistent with previous observations in Krabbe dogs, as well as observations in human Krabbe patients.

Sixth Cranial Nerve Involvement in Early Onset Krabbe Disease

2020 ◽  
Vol 51 (04) ◽  
pp. 307-308
Author(s):  
Miguel Quintas-Neves ◽  
Sofia Almeida Xavier ◽  
João Paulo Soares-Fernandes
Keyword(s):  
Early Onset ◽  
Cranial Nerve ◽  
Krabbe Disease ◽  
Cranial Nerve Involvement ◽  
Sixth Cranial Nerve ◽  
Nerve Involvement

A novel homozygous GALC mutation: Very early onset and rapidly progressive Krabbe disease

Gene ◽  
2013 ◽  
Vol 517 (1) ◽  
pp. 125-127 ◽  
Author(s):  
Fatih Kardas ◽  
Asli Subasioglu Uzak ◽  
Mohammad Arif Hossain ◽  
Norio Sakai ◽  
Mehmet Canpolat ◽  
...  
Keyword(s):  
Early Onset ◽  
Krabbe Disease

scholarly journals Krabbe disease: the importance of early diagnosis for prognosis

2012 ◽  
Vol 10 (2) ◽  
pp. 233-235 ◽  
Author(s):  
Tatiana Suemi Sano
Keyword(s):  
Early Diagnosis ◽  
Early Onset ◽  
Late Onset ◽  
Krabbe Disease ◽  
Globoid Cell Leukodystrophy ◽  
Nervous Systems ◽  
Clinical Forms ◽  
Peripheral Nervous Systems ◽  
Globoid Cell

Krabbe disease (globoid cell leukodystrophy) is an inherited recessive autosomal leukodystrophy caused by deficiency of the enzyme galactocerebrosidase. The lack of this enzyme leads to the build-up of galactolipids that will promote the death of oligodendrocytes and the demyelination of the central and peripheral nervous systems. There are two clinical forms: early onset and late onset. This article reports a case of late onset Krabbe disease and discusses the importance of early diagnosis for its prognosis.

Deletion of exons 11-17 and novel mutations of the galactocerebrosidase gene in adult- and early-onset patients with Krabbe disease

2000 ◽  
Vol 247 (11) ◽  
pp. 875-877 ◽  
Author(s):  
S. Selleri ◽  
E. Torchiana ◽  
D. Pareyson ◽  
L. Lulli ◽  
B Bertagnolio ◽  
...  
Keyword(s):  
Early Onset ◽  
Krabbe Disease ◽  
Novel Mutations

scholarly journals Through Diffusion Tensor Magnetic Resonance Imaging to Evaluate the Original Properties of Neural Pathways of Patients with Partial Seizures and Secondary Generalization by Individual Anatomic Reference Atlas

2014 ◽  
Vol 2014 ◽  
pp. 1-8 ◽  
Author(s):  
Syu-Jyun Peng ◽  
Tomor Harnod ◽  
Jang-Zern Tsai ◽  
Chien-Chun Huang ◽  
Ming-Dou Ker ◽  
...  
Keyword(s):  
Magnetic Resonance ◽  
Early Onset ◽  
Diffusion Tensor ◽  
Mean Diffusivity ◽  
Internal Capsule ◽  
Magnetic Resonance Images ◽  
Neural Pathways ◽  
Posterior Limb ◽  
Significant Difference ◽  
Neocortical Seizures

To investigate white matter (WM) abnormalities in neocortical epilepsy, we extract supratentorial WM parameters from raw tensor magnetic resonance images (MRI) with automated region-of-interest (ROI) registrations. Sixteen patients having neocortical seizures with secondarily generalised convulsions and 16 age-matched normal subjects were imaged with high-resolution and diffusion tensor MRIs. Automated demarcation of supratentorial fibers was accomplished with personalized fiber-labeled atlases. From the individual atlases, we observed significant elevation of mean diffusivity (MD) in fornix (cres)/stria terminalis (FX/ST) and sagittal stratum (SS) and a significant difference in fractional anisotropy (FA) among FX/ST, SS, posterior limb of the internal capsule (PLIC), and posterior thalamic radiation (PTR). For patients with early-onset epilepsy, the diffusivities of the SS and the retrolenticular part of the internal capsule were significantly elevated, and the anisotropies of the FX/ST and SS were significantly decreased. In the drug-resistant subgroup, the MDs of SS and PTR and the FAs of SS and PLIC were significantly different. Onset age was positively correlated with increases in FAs of the genu of the corpus callosum. Patients with neocortical seizures and secondary generalisation had microstructural anomalies in WM. The changes in WM are relevant to early onset, progression, and severity of epilepsy.

Adult-onset Krabbe disease with homozygous T1853C mutation in the galactocerebrosidase gene

Neurology ◽  
1997 ◽  
Vol 49 (5) ◽  
pp. 1392-1399 ◽  
Author(s):  
J.-I. Satoh ◽  
H. Tokumoto ◽  
K. Kurohara ◽  
M. Yukitake ◽  
M. Matsui ◽  
...  
Keyword(s):  
White Matter ◽  
Late Onset ◽  
Spastic Paraparesis ◽  
Internal Capsule ◽  
Krabbe Disease ◽  
High Signal ◽  
Periventricular White Matter ◽  
Mri Findings ◽  
Posterior Limb ◽  
Intellectual Capacity

A 51-year-old woman developed a slowly progressive spastic paraparesis and diminished vibration sense beginning at age 38. Intellectual capacity was normal. Krabbe disease was confirmed by markedly reduced leukocyte galactocerebrosidase (GALC) activity, typical inclusions in Schwann cell cytoplasm, and an identification of the homozygous point mutation T1835C(Leu618Ser) in the GALC gene. T2-weighted MRI of the brain showed symmetric high-signal-intensity lesions in the bilateral frontoparietal white matter, the centrum semiovale, and the posterior limb of the internal capsule with sparing of the periventricular white matter. This case is unusual because of the late onset, protracted clinical course, and MRI findings of demyelination confined to the corticospinal tracts.

Normal Neuroimaging in Early-Onset Krabbe Disease

2011 ◽  
Vol 44 (5) ◽  
pp. 374-376 ◽  
Author(s):  
Mahesh Kamate ◽  
Virupaxi Hattiholi
Keyword(s):  
Early Onset ◽  
Krabbe Disease
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