Premium
Hereditary neuropathy with liability to pressure palsies: Association with central nervous system demyelination
Author(s) -
Amato Anthony A.,
Barohn Richard J.
Publication year - 1996
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/(sici)1097-4598(199606)19:6<770::aid-mus13>3.0.co;2-p
Subject(s) - medicine , central nervous system , mutation , gene duplication , pathology , genetics , gene , biology
Hereditary neuropathy with liability to pressure palsies (HNPP) is usually caused by a 1.5‐Mb deletion in chromosome 17p11.2, the inverse mutation to the duplication seen in the majority of Charcot‐Marie‐Tooth type 1A (CMT 1A) patients. Although most patients with HNPP present with pressure palsies secondary to mild trauma, the clinical heterogeneity of the neuropathy has become more apparent following the discovery of the mutation. There are reports of central conduction abnormalities in CMT 1, however, there have been no previous reports of central nervous system (CNS) demyelination in HNPP. We report a case of HNPP with the typical DNA mutation whose clinical features and MRI of the brain suggested concurrent CNS demyelination. Further studies of possible CNS involvement in HNPP are warranted. © 1996 John Wiley & Sons, Inc.