Detection of a rare Wilson disease mutation associated with arylsulfatase A pseudodeficiency.
Am J Med Genet
; 85(2): 175-8, 1999 Jul 16.
Article
de En
| MEDLINE
| ID: mdl-10406672
ABSTRACT
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.
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Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Cerebroside-sulfatase
/
Dégénérescence hépatolenticulaire
/
Mutation
Type d'étude:
Diagnostic_studies
/
Risk_factors_studies
Limites:
Adult
/
Humans
/
Male
Langue:
En
Journal:
Am J Med Genet
Année:
1999
Type de document:
Article
Pays d'affiliation:
Italie