The use of 3d motion analysis in a patient with an atypical juvenile neuronal ceroid lipofuscinoses phenotype with CLN1 mutation and deficient ppt activity

M. Galli, D. Ferrario, P. Patti, R. Freedland, V. Cimolin, M. Gavin, M. T. Velinov, G. Heaney, W. T. Brown, G. Albertini

Research output: Contribution to journalArticle

Abstract

The aim of this case study was to record and highlight the functional decline in a 23 year old man diagnosed with atypical juvenile neuronal ceroid lipofuscinoses/Batten Disease [AJNCL] with a ceroid lipofuscinoses-neuronal associated gene mutation (CLN1). The patient was monitored during three different sessions over a 3 year period using a three-dimensional (3D) motion analysis system. The results revealed a significant decline in the patient's motor functions over time with a gait pattern progressively more impaired from the physiologic pattern. From the recorded data, the changes in the patient's gait as a function of the disease progression was able to be objectively measured. The findings are important since a biomechanical evaluation using 3D motion analysis may offer more defined treatment approaches in the physical therapy program of patients with Batten disease.

Original languageEnglish
Pages (from-to)155-165
Number of pages11
JournalJournal of Developmental and Physical Disabilities
Volume24
Issue number2
DOIs
Publication statusPublished - Apr 2012

Keywords

  • AJNCL, Batten Disease
  • Gait Analysis
  • Physical Disabilities
  • Rehabilitation

ASJC Scopus subject areas

  • Developmental and Educational Psychology
  • Physical Therapy, Sports Therapy and Rehabilitation

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