Spinal cord involvement in adult-onset metabolic and genetic diseases

Cecilia Marelli, Ettore Salsano, Letterio S. Politi, Pierre Labauge

Research output: Contribution to journalArticlepeer-review


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 languageEnglish
Pages (from-to)211-218
Number of pages8
JournalJournal of Neurology, Neurosurgery and Psychiatry
Issue number2
Publication statusPublished - Feb 1 2019


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

ASJC Scopus subject areas

  • Surgery
  • Clinical Neurology
  • Psychiatry and Mental health


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