Emerging pathways for hereditary axonopathies

Research output: Contribution to journalArticle

25 Citations (Scopus)

Abstract

Motor neurons are affected in a number of neurological diseases. Their unifying pathological signature is degeneration of extended projecting axons and loss of motor neurons in the prefrontal cortex and/or the spinal cord. Based on clinical criteria, hereditary forms have been traditionally divided into distinct entities, such as familial amyotrophic lateral sclerosis, hereditary motor neuropathy, spinal muscular atrophy, familial spinal paraplegia, and Charcot-Marie-Tooth disease type 2, also known as hereditary motor and sensory neuropathy II. Genetic research of the last decade has revealed remarkable heterogeneity within these disorders. Most of the identified genes to date cause disease in a classic Mendelian inheritance pattern with a high phenotypic penetrance. This rich source of molecular genetic data has already provided insight into the underlying major pathways of these diseases and should continue to do so in the future. This review attempts to cross the traditional clinical classifications in order to draw an emerging picture of common pathways between causative genes, providing a different perspective of this rapidly growing scientific field.

Original languageEnglish
Pages (from-to)935-943
Number of pages9
JournalJournal of Molecular Medicine
Volume83
Issue number12
DOIs
StatePublished - Dec 1 2005
Externally publishedYes

Fingerprint

Motor Neurons
Hereditary Sensory and Motor Neuropathy
Charcot-Marie-Tooth Disease
Spinal Muscular Atrophy
Inheritance Patterns
Genetic Research
Penetrance
Paraplegia
Prefrontal Cortex
Genes
Axons
Molecular Biology
Spinal Cord
Amyotrophic lateral sclerosis 1

Keywords

  • ALS
  • Charcot-Marie-Tooth disease
  • Hereditary spastic paraplegia
  • Motor neuron disease
  • Spinal muscular atrophy

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Emerging pathways for hereditary axonopathies. / Zuchner, Stephan L; Vance, Jeffery M.

In: Journal of Molecular Medicine, Vol. 83, No. 12, 01.12.2005, p. 935-943.

Research output: Contribution to journalArticle

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