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: a € spinal cord' AND a € leukoencephalopathy' OR a € leukodystrophy'; a € spinal cord' AND a € 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 is presented, as well as indications about the diagnostic work-up and differential diagnosis. Some of these diseases are potentially treatable (especially if promptly recognised), while others are inherited as autosomal dominant trait. Therefore, a timely diagnosis is needed for a timely therapy and genetic counselling. In addition, spinal cord may be the main site of pathology in many of these diseases, suggesting a tempting role for spinal cord abnormalities as surrogate MRI biomarkers.
Original language | English |
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Pages (from-to) | 211-218 |
Number of pages | 8 |
Journal | Journal of Neurology, Neurosurgery and Psychiatry |
Volume | 90 |
Issue number | 2 |
DOIs | |
Publication status | Published - Feb 1 2019 |
Keywords
- hereditary spastic paraplegia
- metabolic disease
- MRI
- myelopathy
- neurogenetics
ASJC Scopus subject areas
- Surgery
- Clinical Neurology
- Psychiatry and Mental health