Diffusion tensor imaging: A biomarker of outcome in <scp>K</scp>rabbe's disease

Poretti, Andrea; Meoded, Avner; Fatemi, Ali

doi:10.1002/jnr.23769

Cited by 17 publications

(11 citation statements)

References 40 publications

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“…[23] DTI has been reported as an in vivo biomarker of microstructural damage in normal appearing white matter in asymptomatic neonates and has a probable role in post-transplant prognosis and response assessment. [24] In our series, DTI was not available in the early-onset age group. One case from late-onset group showed reduced anisotropy in involved areas.…”

Section: Discussionmentioning

confidence: 99%

Revisiting magnetic resonance imaging pattern of Krabbe disease – Lessons from an Indian cohort

Muthusamy

Sudhakar

Thomas

et al. 2019

JCIS

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Context: Krabbe disease shows considerable heterogeneity in clinical features and disease progression. Imaging phenotypes are equally heterogeneous but show distinct age-based patterns. It is important for radiologists to be familiar with the imaging spectrum to substantially contribute toward early diagnosis, prognostication, and therapeutic decisions. Aims: The study aims to describe different magnetic resonance imaging (MRI) patterns observed in a cohort of children with Krabbe disease and to assess correlation with age-based clinical phenotypes. Materials and Methods: This is a retrospective descriptive study done at the Departments of Radiodiagnosis and Neurological Sciences of our institution, a tertiary care hospital in Southern India. Imaging features of children diagnosed with Krabbe disease over a 10-year period (2009–2018) were collected and analyzed. Results: A total of 38 MRI brain studies from 27 patients were analyzed. Four distinct MRI patterns were recognizable among the different clinical subtypes. All patients from the early and late infantile group showed deep cerebral and cerebellar white matter and dentate hilum involvement. Optic nerve thickening was, however, more common in the former group. Adult-onset subtype showed isolated involvement of corticospinal tract, posterior periventricular white matter, and callosal splenium with the absence of other supra- and infra-tentorial findings. Juvenile subgroup showed heterogeneous mixed pattern with 78% showing adult subtype pattern and 22% showing patchy involvement of deep cerebral white matter with dentate hilum signal changes. Conclusion: Krabbe disease shows distinct imaging features which correspond to different clinical age-based subtypes. This article reemphasizes these distinct imaging phenotypes, highlights a novel imaging appearance in juvenile Krabbe, and also alludes to the rare variant of saposin deficiency. Awareness of these patterns is essential in suggesting the appropriate diagnosis and guiding conclusive diagnostic workup. Large multicenter longitudinal studies are needed to further define the role of imaging in predicting the clinical course and thus to guide therapeutic options.

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Section: Discussionmentioning

confidence: 99%

Revisiting magnetic resonance imaging pattern of Krabbe disease – Lessons from an Indian cohort

Muthusamy

Sudhakar

Thomas

et al. 2019

JCIS

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“…In addition to quantitative assessments of structural imaging, microstructural imaging using diffusion and resting-state fMRI (rs-fMRI) has become increasingly important in evaluating tissue function. Scalar metrics of apparent diffusion coefficient (ADC) and fractional anisotropy (FA) have been widely used in clinical diagnoses, including the evaluation of neonatal hypoxic-ischemic encephalopathy and pediatric metabolic disease (Lemmon et al, 2017;Poretti et al, 2016;Tekes et al, 2015;Xu et al, 2013). More recent brain network investigations have begun to quantify changes during normal and abnormal brain development, which has potential to improve our ability to predict outcome (Cui et al, 2017;Emerson et al, 2016;Tymofiyeva et al, 2013;Tymofiyeva et al, 2014;Ziv et al, 2013;Zuo et al, 2017).…”

Section: Post-processingmentioning

confidence: 99%

Challenges in pediatric neuroimaging

Barkovich

Desikan

et al. 2019

NeuroImage

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Pediatric neuroimaging is challenging due the rapid structural, metabolic, and functional changes that occur in the developing brain. A specially trained team is needed to produce high quality diagnostic images in children, due to their small physical size and immaturity. Patient motion, cooperation and medical condition dictate the methods and equipment used. A customized approach tailored to each child's age and functional status with the appropriate combination of dedicated staff, imaging hardware, and software is key; these range from low-tech techniques, such as feed and swaddle, to specialized small bore MRI scanners, MRI compatible incubators and neonatal head coils. New pre-and post-processing techniques can also compensate for the motion artifacts and low signal that often degrade neonatal scans.

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“…Elevated psychosine levels correlate well with disease severity (possible prognostic indicator). It is specific to confirm the diagnosis, along with clinical manifestations and imaging [ 120 , 122 , 123 , 124 , 125 ].…”

Section: Multiple Sclerosis (Ms)mentioning

confidence: 99%

Molecular Biomarkers in Multiple Sclerosis and Its Related Disorders: A Critical Review

Gul¹,

Jafari

Shah

et al. 2020

IJMS

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Multiple sclerosis (MS) is a chronic autoimmune disease affecting the central nervous system (CNS) which can lead to severe disability. Several diseases can mimic the clinical manifestations of MS. This can often lead to a prolonged period that involves numerous tests and investigations before a definitive diagnosis is reached. As well as the possibility of misdiagnosis. Molecular biomarkers can play a unique role in this regard. Molecular biomarkers offer a unique view into the CNS disorders. They help us understand the pathophysiology of disease as well as guiding our diagnostic, therapeutic, and prognostic approaches in CNS disorders. This review highlights the most prominent molecular biomarkers found in the literature with respect to MS and its related disorders. Based on numerous recent clinical and experimental studies, we demonstrate that several molecular biomarkers could very well aid us in differentiating MS from its related disorders. The implications of this work will hopefully serve clinicians and researchers alike, who regularly deal with MS and its related disorders.

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Diffusion tensor imaging: A biomarker of outcome in Krabbe's disease

Cited by 17 publications

References 40 publications

Revisiting magnetic resonance imaging pattern of Krabbe disease – Lessons from an Indian cohort

Revisiting magnetic resonance imaging pattern of Krabbe disease – Lessons from an Indian cohort

Challenges in pediatric neuroimaging

Molecular Biomarkers in Multiple Sclerosis and Its Related Disorders: A Critical Review

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