The neuropsychological profile of patients with 3-methylglutaconic aciduria type III, Costeff syndrome.

@article{Sofer2015TheNP,
  title={The neuropsychological profile of patients with 3-methylglutaconic aciduria type III, Costeff syndrome.},
  author={Shira Sofer and Alexander Schweiger and Luba Blumkin and Gilad Yahalom and Yair Anikster and Dorit Lev and Bruria Ben-Zeev and Tally Lerman-Sagie and Sharon Hassin-Baer},
  journal={American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics},
  year={2015},
  volume={168B 3},
  pages={197-203}
}
Costeff syndrome is a rare genetic neuro-ophthalmological syndrome consisting of early-onset bilateral optic atrophy along with a progressive complex motor disorder with elevated levels of urinary 3-methylglutaconic acid and 3-methylglutaric acid. While borderline to mild cognitive deficits have been considered to be common in patients with this syndrome, a comprehensive cognitive assessment has never been performed. The aim of the current study was to explore the cognitive profile associated… CONTINUE READING