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.
Institute of Neurological Sciences, Unit of Neurometabolic Disease, University of Siena, Italy.
C
C
Battisti
G
G
Loudianos
A
A
Rufa
M T
MT
Dotti
S
S
Sangiorgi
V
V
Dessì
M
M
Lovicu
M
M
Pirastu
A
A
Federico
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