Strokelike presentation of Wilson disease with homozygosity for a novel T766R mutation

Neurology

Volumn 63, Issue 10, 2004, Pages 1982-1983

  Pendlebury, S T ^a   Rothwell, P M ^a,d   Dalton, A ^b   Burton, E A ^c  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b SHEFFIELD CHILDREN'S NHS FOUNDATION TRUST   (United Kingdom)

^c UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^d Stroke Prevention Research Unit   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

PENICILLAMINE; ZINC;

ADOLESCENT; ARTICLE; CASE REPORT; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DNA SEQUENCE; DYSARTHRIA; DYSPHAGIA; GENE MUTATION; GENOTYPE; HOMOZYGOSITY; HUMAN; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SLIT LAMP; SLURRED SPEECH; STROKE; TREATMENT OUTCOME; WILSON DISEASE;

EID: 8844247913     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000144192.30426.38     Document Type: Article

References (6)

1. Dabrowska E, Jablonska-Kaszewska I, Ozieblowski A, Falkiewicz B. Acute haemolytic syndrome and liver failure as the first manifestations of Wilson's disease. Med Sci Monit 2001;7(suppl 1):246-251.
2. Palsson R, Jonasson JG, Kristjansson M, et al. Genotype-phenotype interactions in Wilson's disease: insight from an Icelandic mutation. Eur J Gastroenterol Hepatol 2001;13:433-436.
3. Curtis D, Durkie M, Balac P, et al. A study of Wilson disease mutations in Britain. Hum Mutat 1999;14:304-311.
4. Riordan SM, Williams R. The Wilson's disease gene and phenotypic diversity. J Hepatol 2001;34:165-171.
5. Thomas GR, Forbes JR, Roberts EA, Walshe JM, Cox DW. The Wilson disease gene: spectrum of mutations and their consequences. Nat Genet 1995;9:210-217.
6. Schiefermeier M, Kollegger H, Madl C, et al. The impact of apolipoprotein E genotypes on age at onset of symptoms and phenotypic expression in Wilson's disease. Brain 2000;123:585-590.