PMID: 6108913Jan 1, 1980Paper

Biochemical, psychometric, and neuropsychological studies in heterozygotes for various lipidoses. Preliminary results

Human Genetics
H ChristomanouC Förster

Abstract

A sample of 38 clinically unaffected carriers for various lipidoses and their noncarrier relatives was studied with biochemical, psychological, and neuropsychological tests under blind conditions. The largest group of carriers was that for metachromatic leucodystrophy (MLD). The mean activity of arylsulphatase A or cerebroside sulphatase in the obligate carriers was 25%-30% of the control values, some heterozygotes showing little more activity than MLD patients. It was found that compared with the controls all heterozygotes (both obligate and facultative) differ unfavourably in some personality traits and in WISA subtests, including capacity for spatial cognition. These differences are especially obvious in a group of seven MLD carriers from the same family. With respect to reaction times, performance was significantly slower in MLD carriers, and particularly in those with enzyme activity lower than 30% of the control values.

References

Jan 1, 1979·Human Genetics·K Sandhoff, H Christomanou
Jan 1, 1979·Pediatric Annals·J O Bishop
Apr 28, 1978·Biochimica Et Biophysica Acta·G Schwarzmann
Aug 7, 1975·The New England Journal of Medicine·G DuboisN Baumann
Feb 28, 1980·The New England Journal of Medicine·M L BatshawS W Brusilow

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Citations

Mar 1, 1981·Behavior Genetics·F Vogel
Jan 1, 1987·Journal of Inherited Metabolic Disease·I V TsvetkovaE L Rosenfeld
Jan 1, 1988·Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Für Klinische Und Experimentelle Ophthalmologie·I GottlobH H Goebel
Aug 1, 1990·Molecular and Chemical Neuropathology·A L Fluharty
Sep 17, 2002·Current Psychiatry Reports·Brenna C McDonald
Aug 1, 1987·Behavioural Brain Research·C E Olmstead
Feb 17, 2005·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Deborah ElsteinAri Zimran
Jul 1, 1990·Acta Psychiatrica Scandinavica·A M HeaveyJ L Crammer
Mar 1, 1987·Journal of Medical Genetics·F Vogel
Jul 1, 1981·American Journal of Ophthalmology·J ZlotogoraG Bach
Oct 1, 1985·Journal of Clinical and Experimental Neuropsychology·T J Boll
Jul 13, 2002·American Journal of Medical Genetics·Anna Tylki-SzymańskaBrunhilde Molzer
Jan 1, 1981·American Journal of Medical Genetics·J ZlotogoraG Bach
Jan 1, 1983·American Journal of Medical Genetics·J Zlotogora, G Bach
May 1, 1983·American Journal of Medical Genetics·G NeuhäuserJ M Opitz
Sep 26, 2015·Journal of Parkinson's Disease·Shlomi Simon-TovDeborah Elstein
Mar 1, 1997·Journal of Inherited Metabolic Disease·W Endres

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