Spinal cord involvement in adult-onset metabolic and genetic diseases

Journal of Neurology, Neurosurgery, and Psychiatry
Cecilia MarelliPierre Labauge

Abstract

In adulthood, spinal cord MRI abnormalities such as T2-weighted hyperintensities and atrophy are commonly associated with a large variety of causes (inflammation, infections, neoplasms, vascular and spondylotic diseases). Occasionally, they can be due to rare metabolic or genetic diseases, in which the spinal cord involvement can be a prominent or even predominant feature, or a secondary one. This review focuses on these rare diseases and associated spinal cord abnormalities, which can provide important but over-ridden clues for the diagnosis. The review was based on a PubMed search (search terms: 'spinal cord' AND 'leukoencephalopathy' OR 'leukodystrophy'; 'spinal cord' AND 'vitamin'), further integrated according to the authors' personal experience and knowledge. The genetic and metabolic diseases of adulthood causing spinal cord signal alterations were identified and classified into four groups: (1) leukodystrophies; (2) deficiency-related metabolic diseases; (3) genetic and acquired toxic/metabolic causes; and (4) mitochondrial diseases. A number of genetic and metabolic diseases of adulthood causing spinal cord atrophy without signal alterations were also identified. Finally, a classification based on spinal MRI findings i...Continue Reading

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Jul 30, 2019·Frontiers in Neurology·Jowy TaniCindy Shin-Yi Lin
Feb 25, 2020·JAMA Neurology·Carine AzarYann Nadjar
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Feb 2, 2021·Continuum : Lifelong Learning in Neurology·John K Fink

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