#616491
Table of Contents
Alternative titles; symbols
A number sign (#) is used with this entry because of evidence that Charcot-Marie-Tooth disease type 2V (CMT2V) is caused by heterozygous mutation in the NAGLU gene (609701) on chromosome 17q21. One such family has been reported.
For a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210).
Tetreault et al. (2015) reported a large French Canadian family in which 21 individuals had a late-onset painful sensory neuropathy. The patients presented with pain in the lower extremities between 18 and 61 years of age (mean 41 years). The symptoms evolved over decades into continuous foot pain, and many individuals also had distal upper limb paresthesias. Physical examination of most patients showed evidence of a peripheral neuropathy, with decreased vibration sense and loss of deep tendon reflexes. However, some patients only complained of disturbed sleep due to the pain. Tandem walking became difficult with age. Nerve conduction studies were normal at the outset but showed decreased sensory and motor nerve amplitudes later in the disease course in some patients, suggestive of an axonal neuropathy; sural nerve biopsy was not performed.
The transmission pattern of CMT2V in the family reported by Tetreault et al. (2015) was consistent with autosomal dominant inheritance.
In affected members of a large French Canadian kindred with autosomal dominant CMT2V, Tetreault et al. (2015) identified a heterozygous missense mutation in the NAGLU gene (I403T; 609701.0015). The mutation, which was found by whole-exome sequencing, segregated with the disorder in the family. Patient leukocytes showed significantly decreased NAGLU enzyme activity (36-54% of controls), consistent with a detrimental effect of the mutation.
Tetreault, M., Gonzalez, M., Dicaire, M.-J., Allard, P., Gehring, K., Leblanc, D., Leclerc, N., Schondorf, R., Mathieu, J., Zuchner, S., Brais, B. Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation. Brain 138: 1477-1483, 2015. [PubMed: 25818867, images, related citations] [Full Text]
Alternative titles; symbols
SNOMEDCT: 1187618009; ORPHA: 447964; DO: 0110178;
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 17q21.2 | ?Charcot-Marie-Tooth disease, axonal, type 2V | 616491 | Autosomal dominant | 3 | NAGLU | 609701 |
A number sign (#) is used with this entry because of evidence that Charcot-Marie-Tooth disease type 2V (CMT2V) is caused by heterozygous mutation in the NAGLU gene (609701) on chromosome 17q21. One such family has been reported.
For a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210).
Tetreault et al. (2015) reported a large French Canadian family in which 21 individuals had a late-onset painful sensory neuropathy. The patients presented with pain in the lower extremities between 18 and 61 years of age (mean 41 years). The symptoms evolved over decades into continuous foot pain, and many individuals also had distal upper limb paresthesias. Physical examination of most patients showed evidence of a peripheral neuropathy, with decreased vibration sense and loss of deep tendon reflexes. However, some patients only complained of disturbed sleep due to the pain. Tandem walking became difficult with age. Nerve conduction studies were normal at the outset but showed decreased sensory and motor nerve amplitudes later in the disease course in some patients, suggestive of an axonal neuropathy; sural nerve biopsy was not performed.
The transmission pattern of CMT2V in the family reported by Tetreault et al. (2015) was consistent with autosomal dominant inheritance.
In affected members of a large French Canadian kindred with autosomal dominant CMT2V, Tetreault et al. (2015) identified a heterozygous missense mutation in the NAGLU gene (I403T; 609701.0015). The mutation, which was found by whole-exome sequencing, segregated with the disorder in the family. Patient leukocytes showed significantly decreased NAGLU enzyme activity (36-54% of controls), consistent with a detrimental effect of the mutation.
Tetreault, M., Gonzalez, M., Dicaire, M.-J., Allard, P., Gehring, K., Leblanc, D., Leclerc, N., Schondorf, R., Mathieu, J., Zuchner, S., Brais, B. Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation. Brain 138: 1477-1483, 2015. [PubMed: 25818867] [Full Text: https://doi.org/10.1093/brain/awv074]
Dear OMIM User,
To ensure long-term funding for the OMIM project, we have diversified our revenue stream. We are determined to keep this website freely accessible. Unfortunately, it is not free to produce. Expert curators review the literature and organize it to facilitate your work. Over 90% of the OMIM's operating expenses go to salary support for MD and PhD science writers and biocurators. Please join your colleagues by making a donation now and again in the future. Donations are an important component of our efforts to ensure long-term funding to provide you the information that you need at your fingertips.
Thank you in advance for your generous support,
Ada Hamosh, MD, MPH
Scientific Director, OMIM