title: The homozygous ganglioside-induced differentiation-associated protein 1 mutation c.373C > T causes a very early-onset neuropathy: case report and literature review.
abstract: Mutations in the ganglioside-induced differentiation-associated protein 1 (GDAP1) gene may cause severe early-onset inherited neuropathies. Here, the authors report a clinical and neurophysiological follow-up of a Pakistani child with a very early-onset neuropathy carrying a novel homozygous mutation in the GDAP1gene. They discuss the relationship between the several forms of Charcot-Marie-Tooth disease presenting in the first months of life and focus on the literature of GDAP1-associated early-onset neuropathy. This case further expands on the clinical spectrum and the genetic heterogeneity of early-onset inherited neuropathy due to GDAP1 gene mutations.
authors.affiliation: Arcispedale Santa Maria Nuova, Reggio Emilia, Italy. fusco.carlo@asmn.re.it
authors.forename: Carlo
authors.initials: C
authors.lastname: Fusco
authors.forename: Valentina
authors.initials: V
authors.lastname: Ucchino
authors.forename: Giovanni
authors.initials: G
authors.lastname: Barbon
authors.forename: Elena
authors.initials: E
authors.lastname: Bonini
authors.forename: Maria Luisa
authors.initials: ML
authors.lastname: Mostacciuolo
authors.forename: Daniele
authors.initials: D
authors.lastname: Frattini
authors.forename: Francesco
authors.initials: F
authors.lastname: Pisani
authors.forename: Elvio Della
authors.initials: ED
authors.lastname: Giustina
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009460:Neurologic Examination; D020641:Polymorphism, Single Nucleotide
chemical_list: C118663:GDAP protein; D009419:Nerve Tissue Proteins