title: SCA2 presenting as levodopa-responsive parkinsonism in a young patient from the United Kingdom: a case report.
abstract: We report on a young woman from the United Kingdom with L-dopa-responsive parkinsonism with a trinucleotide repeat expansion in her spinocerebellar ataxia 2 (SCA2) gene. The case further extends the phenotype of SCA2 and emphasizes the importance of SCA screening in young-onset parkinsonism, irrespective of ethnic origin.
authors.affiliation: Department of Neurology, Addenbrooke's Hospital, Cambridge, United Kingdom.
authors.forename: Alastair
authors.initials: A
authors.lastname: Wilkins
authors.forename: Jerry M
authors.initials: JM
authors.lastname: Brown
authors.forename: Roger A
authors.initials: RA
authors.lastname: Barker
mesh_terms: D000328:Adult; D000483:Alleles; D000978:Antiparkinson Agents / Q000627:therapeutic use*; D000067528:Ataxins; D005260:Female; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use*; D009419:Nerve Tissue Proteins; D020734:Parkinsonian Disorders / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D010641:Phenotype; D011506:Proteins / Q000235:genetics*; D020754:Spinocerebellar Ataxias / Q000175:diagnosis* / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion / Q000235:genetics
chemical_list: D000978:Antiparkinson Agents; D000067528:Ataxins; D009419:Nerve Tissue Proteins; D011506:Proteins; D007980:Levodopa