Unraveling the genetics of distal hereditary motor neuronopathies

Neuromolecular Med. 2006;8(1-2):131-46. doi: 10.1385/nmm:8:1-2:131.

Abstract

The hereditary motor neuronopathies (HMN [MIM 158590]) are a heterogeneous group of disorders characterized by an exclusive involvement of the motor part of the peripheral nervous system. They are usually subdivided in proximal HMN, i.e., the classical spinal muscular atrophy syndromes and distal hereditary motor neuronopathies (distal HMN) that clinically resemble Charcot-Marie-Tooth syndromes. In this review, we concentrate on distal HMN. The distal HMN are clinically and genetically heterogeneous and were initially subdivided in seven subtypes according to mode of inheritance, age at onset, and clinical evolution. Recent studies have shown that these subtypes are still heterogeneous at the molecular genetic level and novel clinical and genetic entities have been delineated. Since the introduction of positional cloning, 13 chromosomal loci and seven disease-associated genes have been identified for autosomal-dominant, autosomal-recessive, and X-linked recessive distal HMN. Most of the genes involved encode protein with housekeeping functions, such as RNA processing, translation synthesis, stress response, apoptosis, and others code for proteins involved in retrograde survival. Motor neurons of the anterior horn of the spinal cord seems to be vulnerable to defects in these housekeeping proteins, likely because their large axons have higher metabolic requirements for maintenance, transport over long distances and precise connectivity. Understanding the molecular pathomechanisms for mutations in these genes that are ubiquitous expressed will help unravel the neuronal mechanisms that underlie motor neuropathies leading to denervation of distal limb muscles, and might generate new insights for future therapeutic strategies.

Publication types

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

MeSH terms

  • Chromosome Disorders / classification
  • Chromosome Disorders / genetics
  • Chromosome Disorders / physiopathology
  • Genes, Dominant
  • Genes, Recessive
  • Genotype
  • Hereditary Sensory and Motor Neuropathy / classification
  • Hereditary Sensory and Motor Neuropathy / genetics*
  • Hereditary Sensory and Motor Neuropathy / physiopathology
  • Humans
  • Motor Neurons / metabolism
  • Phenotype
  • Spinal Muscular Atrophies of Childhood / genetics
  • Spinal Muscular Atrophies of Childhood / physiopathology
  • Syndrome

Associated data

  • OMIM/158590