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Unusual features of central nervous system involvement in CMTX associated with a novel mutation of GJB1 gene
Author(s) -
Stancanelli Claudia,
Taioli Federica,
Testi Silvia,
Fabrizi Gian Maria,
Arena Maria Grazia,
Granata Francesca,
Russo Massimo,
Gentile Luca,
Vita Giuseppe,
Mazzeo Anna
Publication year - 2012
Publication title -
journal of the peripheral nervous system
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1
H-Index - 67
eISSN - 1529-8027
pISSN - 1085-9489
DOI - 10.1111/j.1529-8027.2012.00439.x
Subject(s) - proband , subclinical infection , mutation , phenotype , central nervous system , medicine , disease , cognition , peripheral neuropathy , neuroscience , genetics , gene , psychology , biology , pathology , endocrinology , diabetes mellitus
In this study, we report a novel connexin 32 ( CX32 ) mutation associated with cognitive impairment and a differential degree of peripheral nerve involvement. We present clinical, electrophysiological, and neuroimaging data on a family with X‐linked Charcot‐Marie‐Tooth disease caused by a 41A >G mutation of the gap junction protein beta 1 ( GJB1 ) gene. The proband and her sister presented with a severe neuropathy with subclinical cognitive impairment; the proband's brother showed severe cognitive impairment and a mild neuropathy. This family report confirms that Charcot‐Marie‐Tooth type X is a clinically heterogeneous group, with great variability of phenotypes, possible severe involvement in females and clinical signs of cognitive impairment. Thus, this novel mutation should be added to the group of CX32 mutations with a central nervous system phenotype.