TY - JOUR
T1 - Use of cosH1 probe in hereditary neuropathy with liability to pressure palsies
T2 - A reliable genetic test for demonstration of identical size of 17p11.2 deletion in unrelated patients
AU - Bellone, Emilia
AU - Schenone, Angelo
AU - Mancardi, Gianluigi
AU - Nicholson, Garth A.
AU - Abbruzzese, Michele
AU - Ajmar, Franco
AU - Mandich, Paola
PY - 1996/7/26
Y1 - 1996/7/26
N2 - We describe pulsed-field gel electrophoresis (PFGE) analysis of 10 unrelated Italian families and seven isolated cases with hereditary neuropathy with liability to pressure palsies (HNPP). Our sample includes patients with different clinical features, varying from classical liability to pressure palsies to ingravescent polyneuropathy. The frequency and the uniformity in size of the 17p11.2 deletion was evaluated by using cosH1 probe from the Charcot-Marie-Tooth neuropathy type 1A (CMT1A)-REP region. The presence of the deletion was demonstrated in all our patients; furthermore, the deletion was of identical size, although our patients had different clinical features. Molecular analysis of the 17p11.2 region by PFGE method proved to be a reliable and non-invasive method of diagnosis in HNPP cases both familial and isolated.
AB - We describe pulsed-field gel electrophoresis (PFGE) analysis of 10 unrelated Italian families and seven isolated cases with hereditary neuropathy with liability to pressure palsies (HNPP). Our sample includes patients with different clinical features, varying from classical liability to pressure palsies to ingravescent polyneuropathy. The frequency and the uniformity in size of the 17p11.2 deletion was evaluated by using cosH1 probe from the Charcot-Marie-Tooth neuropathy type 1A (CMT1A)-REP region. The presence of the deletion was demonstrated in all our patients; furthermore, the deletion was of identical size, although our patients had different clinical features. Molecular analysis of the 17p11.2 region by PFGE method proved to be a reliable and non-invasive method of diagnosis in HNPP cases both familial and isolated.
KW - Genetic analysis
KW - Hereditary neuropathy with liability to pressure palsies
KW - Pulsed-field gel electrophoresis
UR - http://www.scopus.com/inward/record.url?scp=0030602848&partnerID=8YFLogxK
U2 - 10.1016/0304-3940(96)12825-1
DO - 10.1016/0304-3940(96)12825-1
M3 - Article
C2 - 8844715
AN - SCOPUS:0030602848
SN - 0304-3940
VL - 213
SP - 71
EP - 73
JO - Neuroscience Letters
JF - Neuroscience Letters
IS - 1
ER -