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The 17p11.2 locus in hereditary neuropathy with liability to pressure palsies, in juvenile and familial carpal tunnel syndrome and in hereditary neuralgic amyotrophy *
Author(s) -
Kownacki J.,
Fellenberg J. V.,
Rösier K.,
Schneider V.,
Bettecken T.,
Moser H.,
Burgunder J.M.
Publication year - 1996
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1111/j.1468-1331.1996.tb00277.x
Subject(s) - medicine , carpal tunnel syndrome , locus (genetics) , amyotrophy , dermatology , surgery , genetics , atrophy , pathology , gene , biology
The presence of deletions at the CMT‐1a locus containing the gene encoding the myelin protein, PMP‐22 on chromosome 17p11.2 was assessed in patients with hereditary neuropathy with liability to pressure palsies (HNPP), with hereditary neuralgic amyotrophy and with hereditary carpal tunnel syndrome. Affected members in all families with HNPP, except in one, had a deletion, in one of them a partial one. None of the non‐affected relatives, none of the members of the other three groups and none of the controls showed a deletion. These data confirm that the majority of patients with HNPP have a deletion at the PMP‐22 gene locus. They do not suggest, however, that such a deletion accounts for a predisposition to the development of hereditary neuralgic amyotrophy or of carpal tunnel syndrome.