Detection of a rare Wilson disease mutation associated with arylsulfatase A pseudodeficiency.
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.
Battisti
C
C
Institute of Neurological Sciences, Unit of Neurometabolic Disease, University of Siena, Italy.
Loudianos
G
G
Rufa
A
A
Dotti
M T
MT
Sangiorgi
S
S
Dessì
V
V
Lovicu
M
M
Pirastu
M
M
Federico
A
A
D000328:Adult; D001921:Brain / Q000000981:diagnostic imaging; D002524:Cerebellar Ataxia / Q000235:genetics; D002553:Cerebroside-Sulfatase / Q000097:blood / Q000172:deficiency*; D003300:Copper / Q000097:blood; D006527:Hepatolenticular Degeneration / Q000097:blood / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational; D015899:Tomography, Emission-Computed, Single-Photon
D003300:Copper; D002553:Cerebroside-Sulfatase