Vol 54, No 4 (2020)
Review article
Published online: 2020-08-18
Submitted: 2020-05-18
Accepted: 2020-07-22
Get Citation

A practical approach to adult-onset white matter diseases, with illustrative cases

Tasneem F. Hasan, Philip W. Tipton, Kenneth A. Vatz, Suzanne M. Brown, Neeharika Thottempudi, Prasuna Kamireddi, Paldeep S. Atwal, Zbigniew K. Wszolek, William D. Freeman
DOI: 10.5603/PJNNS.a2020.0062
·
Pubmed: 32808273
·
Neurol Neurochir Pol 2020;54(4):312-322.

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Vol 54, No 4 (2020)
Review article
Published online: 2020-08-18
Submitted: 2020-05-18
Accepted: 2020-07-22

Abstract

Aim. To evaluate five illustrative cases and perform a literature review to identify and describe a working approach to adult-onset white matter diseases (WMD).

State of the art. Inherited WMD are a group of disorders often seen in childhood. In adulthood, progressive WMDs are rare, apart from the common nonspecific causes of hypertension and other cerebrovascular diseases. The pattern of WMDs on neuroimaging can be an important clue to the final diagnosis. Due to the adoption of a combined clinical-imaging-laboratory approach, WMD is becoming better recognised, in addition to the rapidly evolving field of genomics in this area.

Clinical implications. While paediatric WMDs have a well-defined and literature-based clinical-laboratory approach to diagnosis, adult-onset WMDs remain an important, pathologically diverse, radiographic phenotype, with different and distinct neuropathologies among the various subtypes of WMD. Adult-onset WMDs comprise a wide collection of both acquired and inherited aetiologies. While severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) neurological complications are emerging, we are as yet unaware of it causing WMD outside of post-anoxic changes. It is important to recognise WMD as a potentially undefined acquired or genetic syndrome, even when extensive full genome testing reveals variants of unknown significance.

Future directions. We propose a combined clinical-imaging-laboratory approach to WMD and continued exploration of acquired and genetic factors. Adult-onset WMD, even given this approach, can be challenging because hypertension is often comorbid. Therefore, we propose that undiagnosed patients with WMD be entered into multicentre National Organisation for Rare Diseases registries to help researchers worldwide make new discoveries that will hopefully translate into future cures.

Abstract

Aim. To evaluate five illustrative cases and perform a literature review to identify and describe a working approach to adult-onset white matter diseases (WMD).

State of the art. Inherited WMD are a group of disorders often seen in childhood. In adulthood, progressive WMDs are rare, apart from the common nonspecific causes of hypertension and other cerebrovascular diseases. The pattern of WMDs on neuroimaging can be an important clue to the final diagnosis. Due to the adoption of a combined clinical-imaging-laboratory approach, WMD is becoming better recognised, in addition to the rapidly evolving field of genomics in this area.

Clinical implications. While paediatric WMDs have a well-defined and literature-based clinical-laboratory approach to diagnosis, adult-onset WMDs remain an important, pathologically diverse, radiographic phenotype, with different and distinct neuropathologies among the various subtypes of WMD. Adult-onset WMDs comprise a wide collection of both acquired and inherited aetiologies. While severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) neurological complications are emerging, we are as yet unaware of it causing WMD outside of post-anoxic changes. It is important to recognise WMD as a potentially undefined acquired or genetic syndrome, even when extensive full genome testing reveals variants of unknown significance.

Future directions. We propose a combined clinical-imaging-laboratory approach to WMD and continued exploration of acquired and genetic factors. Adult-onset WMD, even given this approach, can be challenging because hypertension is often comorbid. Therefore, we propose that undiagnosed patients with WMD be entered into multicentre National Organisation for Rare Diseases registries to help researchers worldwide make new discoveries that will hopefully translate into future cures.

Get Citation

Keywords

adult-onset, genetic analysis, magnetic resonance imaging, white matter disease, white matter hyperintensities, COVID-19

Supplementary Files (2)
Supplemental Figure 1 - Chasing the Dragon. Illustrative Case 3: T2 FLAIR MRI of the Brain
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Supplemental Figure 2 - COVID 19. Illustrative Case 5: (A) hypodense frontal white matter and subtle loss in gray-white matter dedifferentiation. (B) severe bilateral hyperintensities in the subcortical and cortical white matter
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About this article
Title

A practical approach to adult-onset white matter diseases, with illustrative cases

Journal

Neurologia i Neurochirurgia Polska

Issue

Vol 54, No 4 (2020)

Pages

312-322

Published online

2020-08-18

DOI

10.5603/PJNNS.a2020.0062

Pubmed

32808273

Bibliographic record

Neurol Neurochir Pol 2020;54(4):312-322.

Keywords

adult-onset
genetic analysis
magnetic resonance imaging
white matter disease
white matter hyperintensities
COVID-19

Authors

Tasneem F. Hasan
Philip W. Tipton
Kenneth A. Vatz
Suzanne M. Brown
Neeharika Thottempudi
Prasuna Kamireddi
Paldeep S. Atwal
Zbigniew K. Wszolek
William D. Freeman

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