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Expanding the genotype-phenotype spectrum of ISCA2-related multiple mitochondrial dysfunction syndrome-cavitating leukoencephalopathy and prolonged survival.

Neurogenetics - 1 Oct 2020

Hartman Tamar Gur, Yosovich Keren, Michaeli Hila Gur, Blumkin Lubov, Ben-Sira Liat, Lev Dorit, Lerman-Sagie Tally, Zerem Ayelet

Abstract excerpt

Iron-sulfur cluster assembly 2 (ISCA2)-related multiple mitochondrial dysfunction syndrome 4 (MMDS4) is a fatal autosomal recessive mitochondrial leukoencephalopathy. The disease typically manifests with rapid neurodevelopmental deterioration during the first months of life leading to a vegetative state and early death. MRI demonstrates a demyelinating leukodystrophy. We describe an eleven-year-old boy with a...

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PMID: 32424628
DOI: 10.1007/s10048-020-00611-8

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