Genotypes & Sensory Phenotypes in 2 New X-Linked Neuropathies (CMTX3 and dSMAX) and Dominant CMT/HMN Overlap Syndromes

  • Garth NicholsonEmail author
  • Marina Kennerson
  • Megan Brewer
  • James Garbern
  • Michael Shy
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 652)


Classification of neuropathies into Charcot-Marie-Tooth syndrome (CMT, hereditary motor and sensory neuropathy) or purely motor neuropathies is relatively easy in single patients but subtle sensory findings can vary in different affected individuals in a family. We examined the extent of sensory involvement in different individuals in two new X-linked neuropathy syndromes (CMTX3 and dSMAX) and in some dominantly inherited mainly motor neuropathies. CMTX3 is a mild X- linked recessive CMT phenotype linked to Xq26-28. dSMAX (distal spinal muscular atrophy linked to Xq13-21). We describe a new family linked to this locus that has some sensory findings which could also be described as a motor and sensory neuropathy i.e. a form of CMT.

In our dominant distal hereditary motor neuropathy (HMN) family linked to chromosome 7 (dHMN1) we also found some affected individuals with sensory signs as well as reduced sensory action potentials. In reported HMN families with known mutations in GARS, SETX, HSPB1 and HSPB8 genes and in many of our HMN families with unknown gene mutations, there is sensory involvement producing a CMT phenotype in some individuals. These disorders do not easily fit into traditional hereditary neuropathy classifications and should be recognised as CMT/HMN overlap syndromes. Recognition of overlap syndromes may assist development of more accurate gene screening paradigms.


Hereditary neuropathy Sensory signs CMT dSMAX Motor neuropathy 


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Copyright information

© Springer Science+Business Media B.V. 2009

Authors and Affiliations

  • Garth Nicholson
    • 1
    Email author
  • Marina Kennerson
    • 1
  • Megan Brewer
    • 1
  • James Garbern
    • 2
  • Michael Shy
    • 2
  1. 1.University of Sydney at the ANZAC Research Institute, Concord HospitalSydneyAustralia
  2. 2.Department of NeurologyWayne State University School of MedicineDetroitUSA

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