Genotypes & sensory phenotypes in 2 new X-linked neuropathies (CMTX3 and dSMAX) and dominant CMT/HMN overlap syndromes

Garth Nicholson*, Marina Kennerson, Megan Brewer, James Garbern, Michael Shy

*Corresponding author for this work

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Citation (Scopus)

Abstract

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.

Original languageEnglish
Title of host publicationInherited Neuromuscular Diseases
Subtitle of host publicationTranslation from Pathomechanisms to Therapies
EditorsCarmen Espinós, Vicente Felipo, Francesc Palau
Place of PublicationDordrecht
PublisherSpringer, Springer Nature
Pages201-206
Number of pages6
Volume652
ISBN (Electronic)9789048128136
ISBN (Print)9789048128129
DOIs
Publication statusPublished - 2009
Externally publishedYes

Publication series

NameAdvances in Experimental Medicine and Biology
Volume652
ISSN (Print)0065-2598

Keywords

  • CMT
  • dSMAX Motor neuropathy
  • Hereditary neuropathy
  • Sensory signs

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    Nicholson, G., Kennerson, M., Brewer, M., Garbern, J., & Shy, M. (2009). Genotypes & sensory phenotypes in 2 new X-linked neuropathies (CMTX3 and dSMAX) and dominant CMT/HMN overlap syndromes. In C. Espinós, V. Felipo, & F. Palau (Eds.), Inherited Neuromuscular Diseases: Translation from Pathomechanisms to Therapies (Vol. 652, pp. 201-206). (Advances in Experimental Medicine and Biology; Vol. 652). Dordrecht: Springer, Springer Nature. https://doi.org/10.1007/978-90-481-2813-6_13