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Cognitive dysfunction and hypogonadotrophic hypogonadism in a Brazilian patient with mitochondrial neurogastrointestinal encephalomyopathy and a novel ECGF1 mutation
Author(s) -
CarodArtal F. J.,
Herrero M. D.,
Lara M. C.,
LópezGallardo E.,
RuizPesini E.,
Martí R.,
Montoya J.
Publication year - 2007
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1111/j.1468-1331.2007.01720.x
Subject(s) - medicine , thymidine phosphorylase , mitochondrial dna , mutation , genetics , hypogonadotrophic hypogonadism , mitochondrial encephalomyopathies , bioinformatics , gene , biology , cancer , mitochondrial myopathy , hormone
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is caused by mutations in the thymidine phosphorylase gene ( ECGF1 ). We present the first detailed report of a Brazilian MNGIE patient, harboring a novel ECGF1 homozygous mutation (C4202A, leading to a premature stop codon, S471X). Multiple deletions and the T5814C change were found in mitochondrial DNA. Together with gastrointestinal symptoms, endocrine involvement and memory dysfunction, not reported in MNGIE to date, were the most preeminent features.