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Neurogenetics

Huntington's disease (HD) is an autosomal dominant progressive neurodegenerative disease with increased CAG trinucleotide repeats (> 40) on chromosome 4p16.3 presenting with chorea, cognitive and affective disturbances. We report on two sisters who are identical twins 65 years of age manifesting with Huntington's disease. Concordance was demonstrated by using highly polymorphic macromolecular markers. In both sisters CAG repeat was 45. The genetic defect was inherited from the father. In sibling one (Sl) the onset was 6 years earlier than in sibling 2 (S2); chorea was more pronounced in S1, cognitive impairment more in S2 (Minimental state, Camcog). MRI showed atrophy of the caudate (bicaudatum index 1.55) and of the cerebral cortex, slightly more pronounced in S1. 18F-Fluordeoxyglucose PET scans were performed and evaluated as described previously (J. Nucl. Med. 1994; 35:1528-1537). rCMRGlc was decreased in caudate, frontal and parietal cortex in both sisters; however, the decrease of rCMRGlc in the left (L) and right (R) caudate was 7.6 resp. 6.5 standard deviations (SD) below a normal data base (n=22) in Sl and 5.3 resp. 4.5 in S2, in the L/R frontal cortex 2.0/2.0 in S1, and 0.25/1.36 in S2, in the L/R parietal cortex 2.2/1.8 in S1, and 0.5/0.2 in S2. Psychosocial and socioeconomic conditions were worse in S1 than in S2. These findings suggest that: in identical twins despite the same genetic changes (equal CAG repeats), time course and clinical symptoms of HD and cerebral metabolism differ distinctly probably due to environmental factors such as psychosocial and socioeconomic conditions.



Headings
Huntington's disease (HD)
cerebral glucose metabolism

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