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 |
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Keywords
- Charcot-Marie-Tooth
- Chromosome 17
- Duplication
ASJC Scopus subject areas
- Epidemiology
- Clinical Neurology
Cite this
Frequency of duplication at 17p11.2 in families of northeast italy with charcot-marie-tooth disease type 1. / Mostacciuolo, M. L.; Schiavon, F.; Angelini, C.; Miccoli, B.; Piccolo, F.; Danieli, G. A.
In: Neuroepidemiology, Vol. 14, No. 2, 1995, p. 49-53.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Frequency of duplication at 17p11.2 in families of northeast italy with charcot-marie-tooth disease type 1
AU - Mostacciuolo, M. L.
AU - Schiavon, F.
AU - Angelini, C.
AU - Miccoli, B.
AU - Piccolo, F.
AU - Danieli, G. A.
PY - 1995
Y1 - 1995
N2 - 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.
AB - 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.
KW - Charcot-Marie-Tooth
KW - Chromosome 17
KW - Duplication
UR - http://www.scopus.com/inward/record.url?scp=0028955666&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0028955666&partnerID=8YFLogxK
U2 - 10.1159/000109778
DO - 10.1159/000109778
M3 - Article
C2 - 7891814
AN - SCOPUS:0028955666
VL - 14
SP - 49
EP - 53
JO - Neuroepidemiology
JF - Neuroepidemiology
SN - 0251-5350
IS - 2
ER -