Psychiatric and cognitive profile in Anderson-Fabry patients: A preliminary study

Perri Segal, Yoav Kohn, Yehuda Pollak, Gheona Altarescu, Esti Galili-Weisstub, Annick Raas-Rothschild*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

22 Scopus citations


Anderson-Fabry disease (AFD) is an X-linked inherited lysosomal storage disorder disease caused by a deficiency in the activity of the α-galactosidase enzyme. We investigated neuropsychological and psychiatric function in AFD patients. We studied 16 AFD patients, aged 7 to 61 years. Intelligence, language, vision-spatial abilities, memory, sensorimotor abilities, and attention and executive functions were tested with a computerized test battery as well as standard paper and pencil tests. The results were compared to known age-based norms. In addition, all patients were screened for lifelong DSM-IV Axis-I and Axis-II psychiatric diagnoses, and 4 were interviewed by a psychiatrist. Performance on most cognitive measures was within average range. All measures of information processing speed were significantly reduced, as were some measures of executive functions. Ten out of 16 patients met DSM-IV criteria for Axis I or Axis II diagnoses at some point in their lives. This preliminary study delineates a psychiatric and cognitive phenotype in AFD patients and contributes to the growing field of characterizing behavioral phenotypes of patients with genetic diseases. We suggest that psychiatric and neuro-psychological evaluation be included in the patient's evaluation.

Original languageAmerican English
Pages (from-to)429-436
Number of pages8
JournalJournal of Inherited Metabolic Disease
Issue number4
StatePublished - Aug 2010


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