Genetic axonal neuropathies and neuronopathies of pre-natal and infantile onset

J Peripher Nerv Syst. 2012 Sep;17(3):285-300. doi: 10.1111/j.1529-8027.2012.00412.x.

Abstract

The infantile-onset axonal neuropathies and neuronopathies are an uncommon and heterogeneous group of conditions causing weakness, wasting, and developmental delay in early childhood. Many are associated with central nervous system or other systemic manifestations and cause early mortality. We review the axonal Charcot-Marie-Tooth subtypes with onset in infancy, spinal muscular atrophy, and related syndromes of early infancy, giant axonal neuropathy, infantile neuroaxonal dystrophy, hereditary motor and sensory neuropathy with agenesis of the corpus callosum, early-onset neuropathies associated with mitochondrial disorders, and other less well-delineated clinical entities. Useful clinical and neuropathologic features in the diagnostic work-up of these conditions are also presented.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Age of Onset
  • Axons / pathology
  • Giant Axonal Neuropathy / epidemiology
  • Giant Axonal Neuropathy / genetics*
  • Giant Axonal Neuropathy / pathology
  • Hereditary Sensory and Motor Neuropathy / epidemiology
  • Hereditary Sensory and Motor Neuropathy / genetics*
  • Hereditary Sensory and Motor Neuropathy / pathology
  • Humans
  • Infant, Newborn
  • Mutation / genetics
  • Peripheral Nervous System Diseases / epidemiology
  • Peripheral Nervous System Diseases / genetics
  • Peripheral Nervous System Diseases / pathology
  • Prenatal Diagnosis*