Journal article

Cerebellar volume correlates with saccadic gain and ataxia in adult Niemann-Pick type C

Mark Walterfang, Larry A Abel, Patricia Desmond, Michael C Fahey, Elizabeth A Bowman, Dennis Velakoulis

MOLECULAR GENETICS AND METABOLISM | ACADEMIC PRESS INC ELSEVIER SCIENCE | Published : 2013

Abstract

BACKGROUND AND PURPOSE: Cerebellar Purkinje cells are known to be highly vulnerable to neuronal pathology in Niemann-Pick type C (NPC), a disease where widespread white matter changes have also been reported. We sought to determine the relationship between white and grey matter cerebellar changes and clinical variables in NPC. MATERIALS AND METHODS: Ten adult patients with NPC were matched to control subjects (n=27) on age and gender. Patients were rated for symptom duration and severity, degree of ataxia, and were assessed for saccadic eye measures. Cerebellar white and grey matter volumes were automatically segmented using the Freesurfer software package. RESULTS: NPC patients had a signif..

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