title: Primary progressive multiple sclerosis developing in the context of young onset Parkinson's disease.
abstract: We report a patient with young onset Parkinson's disease (PD) and a heterozygous point mutation in parkin (c.1000C>T; p.Arg334Cys). After 8 years he developed pyramidal signs and reinvestigation demonstrated MRI and laboratory findings supportive of a diagnosis of multiple sclerosis (MS) with a primary progressive (PP) clinical course. This is a previously un-described association of young onset PD with PPMS. Imaging clearly dates the occurrence of each disease as chronologically separate phenomena. There is not currently evidence for shared causation or pathogenesis between the two neurological disorders but we will follow with interest the emerging genetic characterization of parkin in both PD and MS.
authors.affiliation: Charing Cross Hospital, London, UK.
authors.forename: Anna
authors.initials: A
authors.lastname: Sadnicka
authors.forename: Una-Marie
authors.initials: UM
authors.lastname: Sheerin
authors.forename: Charles
authors.initials: C
authors.lastname: Kaplan
authors.forename: Sophie
authors.initials: S
authors.lastname: Molloy
authors.forename: Paolo A
authors.initials: PA
authors.lastname: Muraro
mesh_terms: D000328:Adult; D017668:Age of Onset; D006801:Humans; D008297:Male; D020528:Multiple Sclerosis, Chronic Progressive / Q000150:complications* / Q000473:pathology / Q000503:physiopathology; D010300:Parkinson Disease / Q000150:complications* / Q000235:genetics / Q000473:pathology; D044767:Ubiquitin-Protein Ligases / Q000235:genetics
chemical_list: D044767:Ubiquitin-Protein Ligases; C111567:parkin protein