Book chapter
Genotypes & Sensory Phenotypes in 2 New X-Linked Neuropathies (CMTX3 and dSMAX) and Dominant CMT/HMN Overlap Syndromes
Inherited Neuromuscular Diseases, pp.201-206
Advances in Experimental Medicine and Biology, Springer Netherlands
09/14/2009
DOI: 10.1007/978-90-481-2813-6_13
PMID: 20225027
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.
Details
- Title: Subtitle
- Genotypes & Sensory Phenotypes in 2 New X-Linked Neuropathies (CMTX3 and dSMAX) and Dominant CMT/HMN Overlap Syndromes
- Creators
- Garth Nicholson - University of Sydney at the ANZAC Research Institute, Concord Hospital, Sydney, AustraliaMarina Kennerson - University of Sydney at the ANZAC Research Institute, Concord Hospital, Sydney, AustraliaMegan Brewer - University of Sydney at the ANZAC Research Institute, Concord Hospital, Sydney, AustraliaJames Garbern - Department of Neurology, Wayne State University School of Medicine, Detroit, USAMichael Shy - Department of Neurology, Wayne State University School of Medicine, Detroit, USA
- Resource Type
- Book chapter
- Publication Details
- Inherited Neuromuscular Diseases, pp.201-206
- Publisher
- Springer Netherlands; Dordrecht
- Series
- Advances in Experimental Medicine and Biology
- DOI
- 10.1007/978-90-481-2813-6_13
- PMID
- 20225027
- ISSN
- 0065-2598
- Language
- English
- Date published
- 09/14/2009
- Academic Unit
- Neurology; Molecular Physiology and Biophysics; Stead Family Department of Pediatrics; Iowa Neuroscience Institute
- Record Identifier
- 9984020769202771
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