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Article

Neonatal mitochondrial leukoencephalopathy with brain and spinal involvement and high lactate: expanding the phenotype of ISCA2 gene mutations.

Metabolic brain disease - 1 Jun 2018

Toldo Irene, Nosadini Margherita, Boscardin Chiara, Talenti Giacomo, Manara Renzo, Lamantea Eleonora, Legati Andrea, Ghezzi Daniele, Perilongo Giorgio, Sartori Stefano

Abstract excerpt

A homoallelic missense founder mutation of the iron-sulfur cluster assembly 2 (ISCA2) gene has been recently reported in six cases affected by an autosomal recessive infantile neurodegenerative mitochondrial disorder. We documented a case of a 2-month-old girl presenting with severe hypotonia and nystagmus, who rapidly deteriorated and died at the age of three months. Increased cerebral spinal fluid level of...

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Identifiers

PMID: 29359243
DOI: 10.1007/s11011-017-0181-3

Genes

ISCA2

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