The Homozygous Ganglioside-Induced Differentiation-Associated Protein 1 Mutation c.373C > T Causes a Very Early-Onset Neuropathy: Case Report and Literature Review

作者：Fusco Carlo^*; Ucchino Valentina; Barbon Giovanni; Bonini Elena; Mostacciuolo Maria Luisa; Frattini Daniele; Pisani Francesco; Della Giustina Elvio

来源：Journal of Child Neurology, 2011, 26(1): 49-57.

DOI：10.1177/0883073810373142

• ganglioside-induced differentiation-associated protein 1(GDAP1) gene
• early-onset neuropathy
• Charcot-Marie-Tooth 4A

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.

• 出版日期2011-1