SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis

Ronen Spiegel, Avraham Shaag, Simon Edvardson, Hanna Mandel, Polina Stepensky, Stavit A. Shalev, Yoseph Horovitz, Ophry Pines, Orly Elpeleg*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

69 Scopus citations


Four patients, aged 7-20 years, suffered from recurrent episodes of flaccid paralysis and encephalopathy associated with bilateral striatal necrosis and chronic progressive polyneuropathy. Using homozygosity mapping, a pathogenic missense mutation in the SLC25A19 gene that encodes the mitochondrial thiamine pyrophosphate transporter was identified. An SLC25A19 mutation was previously reported in Amish congenital lethal microcephaly but the present patients' phenotype is markedly different, with normal head circumference, normal early childhood development, age-appropriate cognitive skills, and normal urinary organic acid profile. Determination of the SLC25A19 sequence should be considered in patients with bilateral striatal necrosis and progressive polyneuropathy.

Original languageAmerican English
Pages (from-to)419-424
Number of pages6
JournalAnnals of Neurology
Issue number3
StatePublished - 2009


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