Spinal cord involvement in adult-onset metabolic and genetic diseases

UMMS Affiliation

Department of Radiology

Publication Date


Document Type



Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Nervous System | Nervous System Diseases | Neuroscience and Neurobiology | Nutritional and Metabolic Diseases | Radiology


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 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.


MRI, hereditary spastic paraplegia, metabolic disease, myelopathy, neurogenetics

DOI of Published Version



J Neurol Neurosurg Psychiatry. 2018 Aug 27. pii: jnnp-2018-318666. doi: 10.1136/jnnp-2018-318666. [Epub ahead of print] Link to article on publisher's site

Journal/Book/Conference Title

Journal of neurology, neurosurgery, and psychiatry

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Link to Article in PubMed

PubMed ID