Emerging pathways for hereditary axonopathies - CMT Type 2

[Guest guest]

J Mol Med. 2005 Aug 31;

Emerging pathways for hereditary axonopathies.

Zuchner S, Vance JM.

Center for Human Genetics, Duke University Medical Center, 595

LaSalle Street, Box 3445 DUMC, Durham, NC, 27710, USA.

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.