title: The neuropsychological profile of patients with 3-methylglutaconic aciduria type III, Costeff syndrome.
abstract: 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 with Costeff syndrome. Sixteen adult patients diagnosed with Costeff syndrome were administered a neuropsychological test battery that was composed of standardized verbal tests adapted for the blind. General intelligence ranged from average to borderline, with a group mean consistent with intact general cognitive functioning (VIQmean  = 85, z = -1) in the low-average range of the general population. The auditory immediate and delayed memory indexes were in the average range and were significantly higher than the general cognitive functioning, whereas the working memory index was significantly lower than the general cognitive functioning. Adult patients with Costeff syndrome have intact global cognition and learning abilities and strong auditory memory performance. © 2015 Wiley Periodicals, Inc.
authors: The Academic College of Tel-Aviv-Yafo, Tel-Aviv, Israel.
authors: S
authors: S
authors: Sofer
authors: A
authors: A
authors: Schweiger
authors: L
authors: L
authors: Blumkin
authors: G
authors: G
authors: Yahalom
authors: Y
authors: Y
authors: Anikster
authors: D
authors: D
authors: Lev
authors: B
authors: B
authors: Ben-Zeev
authors: T
authors: T
authors: Lerman-Sagie
authors: S
authors: S
authors: Hassin-Baer
mesh_terms: D000328:Adult; D002819:Chorea / Q000150:complications* / Q000523:psychology*; D003072:Cognition Disorders / Q000209:etiology* / Q000523:psychology*; D056344:Executive Function / Q000502:physiology; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007360:Intelligence / Q000502:physiology; D008297:Male; D015093:Meglutol / Q000031:analogs & derivatives* / Q000652:urine; D008570:Memory, Short-Term / Q000502:physiology; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000523:psychology*; D008875:Middle Aged; D009483:Neuropsychological Tests; D009896:Optic Atrophy / Q000150:complications* / Q000523:psychology*; D011379:Prognosis; D011597:Psychomotor Performance; D015419:Spastic Paraplegia, Hereditary / Q000150:complications* / Q000523:psychology*; D055815:Young Adult
chemical_list: C033686:3-methylglutaric acid; D015093:Meglutol
keywords: Neuropsychological assessment; OPA3; blind; spastic paraparesis