The Homozygous Ganglioside-Induced Differentiation-Associated Protein 1 Mutatio

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J Child Neurol. 2011 Jan;26(1):49-57.

The Homozygous Ganglioside-Induced Differentiation-Associated Protein 1 Mutation

c.373C > T Causes a Very Early-Onset Neuropathy: Case Report and Literature

Review.

Fusco C, Ucchino V, Barbon G, Bonini E, Mostacciuolo ML, Frattini D, Pisani F,

Giustina ED.

Pediatric Neurology Unit, Arcispedale Santa Nuova, Reggio Emilia, Italy.

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.