Subject(s)
Brain/pathology , Eye Abnormalities/pathology , Hepatolenticular Degeneration , Saccades/physiology , Brain/physiopathology , Ceruloplasmin/biosynthesis , Copper/blood , Early Diagnosis , Eye Abnormalities/physiopathology , Hepatolenticular Degeneration/diagnosis , Hepatolenticular Degeneration/genetics , Hepatolenticular Degeneration/physiopathology , Humans , Male , Young AdultABSTRACT
Various phenotypes have been reported in Charcot-Marie-Tooth (CMT) disease carrying mutations in the ganglioside-induced differentiation-associated protein 1 (GDAP1) gene. Here, we report two recessive intermediate Charcot-Marie-Tooth (RI-CMT) patients with GDAP1 missense mutations: a His256Arg homozygous mutation (c.767A>G + c.767A>G) and compound mutations of heterozygous Pro111His (c.332C>A) and Val219Gly (c.656T>G). The Pro111His and Val219Gly are unreported mutations, but the His256Arg was previously reported. In both patients, histopathological findings showed well-documented features of mixed demyelinating and axonal neuropathies, and nerve conduction velocities fall in the intermediate range. In addition, the patterns of fatty substitutions in leg magnetic resonance imaging (MRI) were different by the mutation sites within the same GDAP1 gene.
