Abstract
Charcot-Marie-Tooth disease type 1 (CMT1) is the most common form of the hereditary motor sensory neuropathies (HMSN) with a prevalence in the Italian population of 9.4/ 100,000 inhabitants. CMT 1 is a genetically heterogeneous disorder. Forty CMT 1 families (35 with recurrence of cases and 5 sporadic cases) living in northeastern Italy were analyzed with the probe pVAW409R3 to reveal the presence of 17p11.2 duplication. The duplication frequency that resulted was about 82% and not significantly different in familial and in sporadic cases (p = 0.801). This kind of molecular analysis can be very useful for the differential diagnosis of CMT 1 and for the early diagnosis in the absence of a clear clinical manifestation.
| Original language | English |
|---|---|
| Pages (from-to) | 49-53 |
| Number of pages | 5 |
| Journal | Neuroepidemiology |
| Volume | 14 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - 1995 |
Keywords
- Charcot-Marie-Tooth
- Chromosome 17
- Duplication
ASJC Scopus subject areas
- Epidemiology
- Clinical Neurology
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Mostacciuolo, M. L., Schiavon, F., Angelini, C., Miccoli, B., Piccolo, F., & Danieli, G. A. (1995). Frequency of duplication at 17p11.2 in families of northeast italy with charcot-marie-tooth disease type 1. Neuroepidemiology, 14(2), 49-53. https://doi.org/10.1159/000109778