Article
SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis.
Annals of neurology - 1 Sept 2009
Spiegel Ronen, Shaag Avraham, Edvardson Simon, Mandel Hanna, Stepensky Polina, Shalev Stavit A, Horovitz Yoseph, Pines Ophry, Elpeleg Orly
Abstract excerpt
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...
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