PubMed · 8255526
The source did not provide an abstract. Follow the original record for more information.
Explore connections, maps & timelines
H Köhler, E Wandel. 1993. Acanthocyturia detects glomerular bleeding.. https://pubmed.ncbi.nlm.nih.gov/8255526/
Cite the original work for its findings. Save a collection to share your selection of sources.
KEEP EXPLORING
OBJECTIVE: To identify the neuropsychological profiles of patients with neuroacanthocytosis. PATIENTS: The medical files of 19 previously reported cases of neuroacanthocytosis were reviewed. Ten of the patients involved had undergone comprehensive cognitive assessments, and their neuropsychological records formed the basis of the present study. DATA EXTRACTION: Data on discrepancies between estimated optimal and obtained measures of general intelligence and scores on focal cognitive tests of memory, language, visual perception, and frontal lobe executive skills were tabulated and interpreted. RESULTS: Eight of the patients had evidence of general intellectual deterioration. Five patients presented with memory impairment, two of whom showed visuoperceptual deficits. None of the patients showed any significant high-level language deficits. The most consistent findings across cases was evidence of impairment in frontal lobe executive skills and psychiatric morbidity. CONCLUSION: The cognitive and psychiatric features of the patients suggests that neuroacanthocytosis is a frontosubcortical type of dementia.
McLeod syndrome is an X-linked recessive disorder, characterized by neuromuscular and hematopoietic dysfunction. Two cases of McLeod syndrome were reported in a family with neuroacanthocytosis and, remarkably, 1 of them was female. Direct sequence analysis of the McLeod gene in 12 members of the family revealed a novel point mutation in exon 2 that creates a frameshift and results in premature termination of translation. There was marked skewing of X inactivation in the severely affected female.
Explore the source record for details and available documents.