The inherited neuropathies.
Neuropathy is one of the most common referrals to neurologic clinics. Patients often undergo extensive testing for acquired etiologies; inherited causes are common. Increasingly, genetic causes are becoming known and commercial testing available. The rate of recent discovery has been rapid and relates to the extent of single gene disorders of nerve, the ease of peripheral nervous system functional examination, and readily accessible pathologic tissue. Foremost in the rate of recent discoveries is the work and tools of the human genome project. the rapidity of the ongoing discovery requires clinicians to be familiar with molecular biologic discoveries and consider wisely which testing should be performed.
Klein
Christopher J
CJ
Department of Neurology, Division of Peripheral Nerve Diseases, Mayo Clinic, Rochester, MN, USA. klein.christopher@mayo.edu
D004252:DNA Mutational Analysis; D003711:Demyelinating Diseases / Q000453:epidemiology / Q000235:genetics; D015417:Hereditary Sensory and Motor Neuropathy / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D015778:Minor Histocompatibility Antigens; D008967:Molecular Biology / Q000379:methods*; D009419:Nerve Tissue Proteins / Q000235:genetics; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics; D017346:Protein Serine-Threonine Kinases; D020754:Spinocerebellar Ataxias / Q000453:epidemiology / Q000235:genetics; D000076204:WNK Lysine-Deficient Protein Kinase 1
D047908:Intracellular Signaling Peptides and Proteins; D015778:Minor Histocompatibility Antigens; D009419:Nerve Tissue Proteins; D017346:Protein Serine-Threonine Kinases; D000076204:WNK Lysine-Deficient Protein Kinase 1; C498743:WNK1 protein, human