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Detection of a rare Wilson disease mutation associated with arylsulfatase A pseudodeficiency

✍ Scribed by Battisti, C.; Loudianos, G.; Rufa, A.; Dotti, M.T.; Sangiorgi, S.; Dess�, V.; Lovicu, M.; Pirastu, M.; Federico, A.

Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
16 KB
Volume
85
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19990716)85:2<175::aid-ajmg13>3.0.co;2-5

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✦ Synopsis

We have studied a patient with Wilson disease (WD), belonging to a family segregating late-onset, dominant cerebellar ataxia. Analysis of the WD gene showed that the patient is a compound heterozygote, carrying the 14His1069Gln mutation from the father and the 8Gly710Ser mutation from the mother. The 8Gly710Ser is a mutation described previously only in a Swedish patient. Our patient is also homozygous for arylsulfatase A pseudodeficiency. This genetic defect, which has been reported in association with other neuropsychiatric syndromes, has not been described in WD. Am.

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