A practical approach to adult-onset white matter diseases, with illustrative cases.
Neurol Neurochir Pol
; 54(4): 312-322, 2020.
Article
in English
| MEDLINE | ID: covidwho-1067910
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.Keywords
Full text:
Available
Collection:
International databases
Database:
MEDLINE
Main subject:
Leukoencephalopathies
Type of study:
Diagnostic study
/
Etiology study
/
Experimental Studies
/
Prognostic study
/
Reviews
Topics:
Variants
Limits:
Adult
/
Humans
Language:
English
Journal:
Neurol Neurochir Pol
Year:
2020
Document Type:
Article
Affiliation country:
PJNNS.a2020.0062
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