title: Adult Hallervorden-Spatz syndrome simulating amyotrophic lateral sclerosis.
abstract: Hallervorden-Spatz syndrome (HSS) is a neurodegenerative disorder characterized by progressive dementia, dystonia, ataxia, and rigidity. An atypical form of adult-onset HSS was observed in a 36-year-old man presenting with progressive dysarthria. Markedly dysarthric speech and a weak atrophic tongue associated with a neurogenic pattern of motor unit recruitment in bulbar-supplied muscles on electromyography led to an initial impression of bulbar amyotrophic lateral sclerosis (ALS). Lack of expected progression of symptoms, however, prompted reinvestigation. Repeat brain magnetic resonance imaging demonstrated an "eye-of-the-tiger" pattern in the basal ganglia, characteristic of HSS, thus requiring genetic studies. DNA analyses of the pantothenate kinase gene (PANK2) was conducted and revealed two novel, disease-causing exon 3 missense mutations (Cys231Ser and Tyr251Cys). This case broadens the genotypic and phenotypic spectrum of HSS to include a late-onset syndrome resembling bulbar-onset ALS.
authors.affiliation: Department of Neurology, Medical College of Virginia, Virginia Commonwealth University, Richmond, Virginia, USA.
authors.forename: O M
authors.initials: OM
authors.lastname: Vasconcelos
authors.forename: D H
authors.initials: DH
authors.lastname: Harter
authors.forename: C
authors.initials: C
authors.lastname: Duffy
authors.forename: B
authors.initials: B
authors.lastname: McDonough
authors.forename: J G
authors.initials: JG
authors.lastname: Seidman
authors.forename: C E
authors.initials: CE
authors.lastname: Seidman
authors.forename: W W
authors.initials: WW
authors.lastname: Campbell
mesh_terms: D000328:Adult; D000690:Amyotrophic Lateral Sclerosis / Q000175:diagnosis*; D001479:Basal Ganglia / Q000473:pathology; D001921:Brain / Q000473:pathology; D003937:Diagnosis, Differential; D004576:Electromyography; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D020125:Mutation, Missense / Q000235:genetics; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D010641:Phenotype; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics
chemical_list: D017853:Phosphotransferases (Alcohol Group Acceptor); C023088:pantothenate kinase