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Review
Spinal cord involvement in adult-onset metabolic and genetic diseases
  1. Cecilia Marelli1,2,3,4,
  2. Ettore Salsano5,
  3. Letterio S Politi6,7,
  4. Pierre Labauge1,8
  1. 1 Department of Neurology, Gui de Chauliac University Hospital, Montpellier, France
  2. 2 Expert Center for Neurogenetic Diseases and Adult Mitochondrial and Metabolic Diseases, Gui de Chauliac University Hospital, Montpellier, France
  3. 3 EA7402 Institut Universitaire de Recherche Clinique and Laboratoire de Genetique Moleculaire, Gui de Chauliac University Hospital, Montpellier, France
  4. 4 MMDN, Université de Montpellier, EPHE, Inserm UMR-S1198, Montpellier, France
  5. 5 Unit of Neurodegenerative and Neurometabolic Rare Diseases, RCCS Foundation ‘Carlo Besta’ Neurological Institute, Milan, Italy
  6. 6 Advanced MRI Centre, University of Massachusetts Medical School, Worcester, USA
  7. 7 Neuroimaging Research, Boston Children’s Hospital, Boston, MA, USA
  8. 8 Reference Centre for Adult Leukodystrophies, Gui de Chauliac University Hospital, Montpellier, France
  1. Correspondence to Dr Cecilia Marelli, Department of Neurology, Expert Center for Neurogenetic Diseases and Adult Mitochondrial and Metabolic Diseases, Gui de Chauliac University Hospital, Montpellier, 34295 - Cedex 5, France; c-marelli{at}chu-montpellier.fr

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 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.

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

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Footnotes

  • CM and ES contributed equally.

  • Contributors CM and ES were responsible for conception of the work, acquisition of data and drafting of the manuscript. CM, ES, LSP and PL gave substantial contributions to the design of the work, analysis and interpretation of data, critical revision of the manuscript for important intellectual content, and approval of the version published. All authors gave agreement to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent Not required.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Data sharing statement There are no additional unpublished data.

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