title: Subcortical white matter abnormalities related to drug resistance in Wilson disease.
abstract: Wilson disease (WD) produces typical lesions in the brain, which can aid in diagnosis and therapy. The authors present a drug-resistant WD case with atypical cerebral lesions with marked involvement of white matter as visualized on MRI scans. The diagnosis was confirmed by identification of mutations in the ATP7B gene. The case demonstrates an uncommon pathology-related cerebral copper accumulation and emphasizes the importance of genetic screening in the diagnosis of WD.
authors.affiliation: Human Genetics and Genomics Division, Indian Institute of Chemical Biology, Jadavpur, Kolkata 700 032, India.
authors.forename: D
authors.initials: D
authors.lastname: Aikath
authors.forename: A
authors.initials: A
authors.lastname: Gupta
authors.forename: I
authors.initials: I
authors.lastname: Chattopadhyay
authors.forename: M A
authors.initials: MA
authors.lastname: Hashmi
authors.forename: P K
authors.initials: PK
authors.lastname: Gangopadhyay
authors.forename: S K
authors.initials: SK
authors.lastname: Das
authors.forename: K
authors.initials: K
authors.lastname: Ray
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics; D000931:Antidotes / Q000627:therapeutic use; D001921:Brain / Q000002:abnormalities* / Q000473:pathology*; D027682:Cation Transport Proteins / Q000235:genetics; D002648:Child; D000073840:Copper-Transporting ATPases; D003545:Cysteine / Q000235:genetics; D018450:Disease Progression; D004351:Drug Resistance; D005500:Follow-Up Studies; D006527:Hepatolenticular Degeneration / Q000188:drug therapy / Q000235:genetics / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D010396:Penicillamine / Q000627:therapeutic use
chemical_list: D000931:Antidotes; D027682:Cation Transport Proteins; D000251:Adenosine Triphosphatases; C081184:ATP7A protein, human; D000073840:Copper-Transporting ATPases; D010396:Penicillamine; D003545:Cysteine