Freezing of gait--first motor manifestation in late infantile variant neuronal ceroid lipofuscinosis

Parkinsonism Relat Disord. 2014 Feb;20(2):243-4. doi: 10.1016/j.parkreldis.2013.10.015. Epub 2013 Oct 23.

Authors

J Damásio¹, R Taipa², M Melo-Pires², A Guimarães², K P Bhatia³, M Santos⁴, I Carrilho⁴

Affiliations

¹ Neurology Department, Centro Hospitalar do Porto, Porto, Portugal. Electronic address: [email protected].
² Neuropathology Unit, Centro Hospitalar do Porto, Porto, Portugal.
³ Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, Queen Square, London, United Kingdom.
⁴ Paediatric Neurology Department, Centro Hospitalar do Porto, Porto, Portugal.

PMID: 24188967
DOI: 10.1016/j.parkreldis.2013.10.015

No abstract available

Keywords: Gait disorders; Generalized seizures; Metabolic disease.

Publication types

Case Reports
Letter
Video-Audio Media

MeSH terms

Age of Onset
Brain / pathology*
Child
Child, Preschool
Gait
Gait Disorders, Neurologic / genetics*
Humans
Male
Membrane Proteins / genetics
Microscopy, Electron, Transmission
Neuronal Ceroid-Lipofuscinoses / complications*
Neuronal Ceroid-Lipofuscinoses / genetics
Neuronal Ceroid-Lipofuscinoses / pathology

Substances

CLN6 protein, human
Membrane Proteins