Hereditary and metabolic myelopathies

Handb Clin Neurol. 2016:136:769-85. doi: 10.1016/B978-0-444-53486-6.00038-7.


Hereditary and metabolic myelopathies are a heterogeneous group of neurologic disorders characterized by clinical signs suggesting spinal cord dysfunction. Spastic weakness, limb ataxia without additional cerebellar signs, impaired vibration, and positional sensation are hallmark phenotypic features of these disorders. Hereditary, and to some extent, metabolic myelopathies are now recognized as more widespread systemic processes with axonal loss and demyelination. However, the concept of predominantly spinal cord disorders remains clinically helpful to differentiate these disorders from other neurodegenerative conditions. Furthermore, metabolic myelopathies are potentially treatable and an earlier diagnosis increases the likelihood of a good clinical recovery. This chapter reviews major types of degenerative myelopathies, hereditary spastic paraplegia, motor neuron disorders, spastic ataxias, and metabolic disorders, including leukodystrophies and nutritionally induced myelopathies, such as vitamin B12, E, and copper deficiencies. Neuroimaging studies usually detect a nonspecific spinal cord atrophy or demyelination of the corticospinal tracts and dorsal columns. Brain imaging can be also helpful in myelopathies caused by generalized neurodegeneration. Given the nonspecific nature of neuroimaging findings, we also review metabolic or genetic assays needed for the specific diagnosis of hereditary and metabolic myelopathies.

Keywords: copper deficiency; demyelination; dorsal columns; hereditary spastic paraplegia; leukodystrophy; myelopathy; primary lateral sclerosis; spastic ataxia; spinal cord atrophy; vitamin B(12) deficiency; vitamin E deficiency.

Publication types

  • Review

MeSH terms

  • Brain Diseases, Metabolic / complications*
  • Brain Diseases, Metabolic / diagnostic imaging
  • Brain Diseases, Metabolic / genetics*
  • Humans
  • Spinal Cord Diseases / complications*
  • Spinal Cord Diseases / diagnostic imaging
  • Spinal Cord Diseases / genetics*