title: An unusual case of familial ALS and cerebellar ataxia.
abstract: We report a case of familial amyotrophic lateral sclerosis (FALS) with clinical signs of cerebellar and posterior column involvement. The patient's work-up showed a known mutation (E100K) in the gene for Cu/Zn superoxide dismutase 1 (SOD1). Our case illustrates that extramotor symptoms, such as prominent cerebellar signs, can be seen in patients with FALS.
authors.affiliation: Department of Neurology, University of Texas Medical School at Houston, 6431 Fannin Street, Houston, TX 77030, USA.
authors.forename: Sadia
authors.initials: S
authors.lastname: Yasser
authors.forename: Faisal
authors.initials: F
authors.lastname: Fecto
authors.forename: Teepu
authors.initials: T
authors.lastname: Siddique
authors.forename: Kazim A
authors.initials: KA
authors.lastname: Sheikh
authors.forename: Parveen
authors.initials: P
authors.lastname: Athar
mesh_terms: D000328:Adult; D000690:Amyotrophic Lateral Sclerosis / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*; D002524:Cerebellar Ataxia / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*; D005260:Female; D006801:Humans; D009154:Mutation; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1
chemical_list: C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1