title: Freezing of gait--first motor manifestation in late infantile variant neuronal ceroid lipofuscinosis.
authors.affiliation: Neurology Department, Centro Hospitalar do Porto, Porto, Portugal. Electronic address: joanadamasio80@gmail.com.
authors.forename: J
authors.initials: J
authors.lastname: Damásio
authors.affiliation: Neuropathology Unit, Centro Hospitalar do Porto, Porto, Portugal.
authors.forename: R
authors.initials: R
authors.lastname: Taipa
authors.affiliation: Neuropathology Unit, Centro Hospitalar do Porto, Porto, Portugal.
authors.forename: M
authors.initials: M
authors.lastname: Melo-Pires
authors.affiliation: Neuropathology Unit, Centro Hospitalar do Porto, Porto, Portugal.
authors.forename: A
authors.initials: A
authors.lastname: Guimarães
authors.affiliation: Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, Queen Square, London, United Kingdom.
authors.forename: K P
authors.initials: KP
authors.lastname: Bhatia
authors.affiliation: Paediatric Neurology Department, Centro Hospitalar do Porto, Porto, Portugal.
authors.forename: M
authors.initials: M
authors.lastname: Santos
authors.affiliation: Paediatric Neurology Department, Centro Hospitalar do Porto, Porto, Portugal.
authors.forename: I
authors.initials: I
authors.lastname: Carrilho
mesh_terms: D017668:Age of Onset; D001921:Brain / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D005684:Gait; D020233:Gait Disorders, Neurologic / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D046529:Microscopy, Electron, Transmission; D009472:Neuronal Ceroid-Lipofuscinoses / Q000150:complications* / Q000235:genetics / Q000473:pathology
chemical_list: C447500:CLN6 protein, human; D008565:Membrane Proteins
keywords: Gait disorders; Generalized seizures; Metabolic disease