Skip to main content
SpringerLink
Log in

The Use of 3d Motion Analysis in a Patient with an Atypical Juvenile Neuronal Ceroid Lipofuscinoses Phenotype with CLN1 Mutation and Deficient PPT Activity

  • Original Article
  • Published:
Journal of Developmental and Physical Disabilities Aims and scope Submit manuscript

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.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3
Fig. 4

Similar content being viewed by others

References

  • Cimolin, V., Galli, M., Vimercati, S. L., & Albertini, G. (2011). Use of the Gait Deviation Index for the assessment of gastrocnemius fascia lengthening in children with cerebral palsy. Research in Developmental Disabilities, 32(1), 377–381.

    Article  PubMed  Google Scholar 

  • Das, A. K., Becerra, C. K., Yi, W., Lu, J., Siakoto, A. N., Wisniewski, K., Hofman, S., & Hofmann, S. (1998). Molecular genetics of palmitoyl-protein thioesterase deficiency in the US. Journal of Clinical Investigation, 102(2), 361–370.

    Article  PubMed  Google Scholar 

  • Davis, R. B., Ounpuu, S., Tyburski, D., & Gage, J. R. (1991). A gait analysis data collection and reduction technique. Human Movement Science, 10(5), 575–587.

    Article  Google Scholar 

  • Gavin, M., Velinov, M., & Dockter, E. (2010). Battling Batten disease. ADVANCE for Nurses. Accessed at: http://nursing.advanceweb.com/Student-and-New-Grad-Center/Student-Top-Story/Battling-Batten-Disease.aspx.

  • Goebel, H. H., & Wisniewski, K. E. (2004). Current state of clinical and morphological features in human NCL. Brain Pathology, 14(1), 61–69.

    Article  PubMed  Google Scholar 

  • Kalviainen, R., Eriksson, K., Losekoot, M., Sorri, I., Harvima, I., Santavuori, P., Jarvela, I., et al. (2007). Juvenile-onset neuronal ceroid lipofuscinosis with infantile CLN1 mutation and palmitoyl-protein thioesterase deficiency. European Journal of Neurology, 2007(14), 369–372.

    Article  Google Scholar 

  • Mole, S., & Williams, R. (2010). Neuronal Ceroid-Lipofuscinoses. In: Pagon, R. A., Bird, T. D., Dolan, C. R., & Stephens, K., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2001 Oct 10 [updated 2010 Mar 2]. Accessed at: http://www.ncbi.nlm.nih.gov/books/NBK1428.

  • Mole, S. E., Williams, R. E., & Goebel, H. H. (2005). Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. Neurogenetics, 6(3), 107–126.

    Article  PubMed  Google Scholar 

  • Molloy, M., McDowell, B. C., Kerr, C., & Cosgrove, A. P. (2010). Further evidence of validity of the Gait Deviation Index. Gait & Posture, 31(4), 479–482.

    Article  Google Scholar 

  • Santavuori, P., Lauronen, L., Kirveskari, E., Åberg, L., Sainio, K., & Autti, T. (2000). Neuronal ceroid lipofuscinoses in childhood. Neurological Sciences, 21, 35–41.

    Article  Google Scholar 

  • Schwartz, M. H., & Rozumalski, A. (2008). The Gait Deviation Index: A new comprehensive index of gait pathology. Gait & Posture, 28(3), 351–357.

    Article  Google Scholar 

  • Wisniewski, K. E., Zhong, N., Kaczmarski, W., Kaczmarski, A., Sklower-Brooks, S., & Brown, W. T. (1998). Studies of atypical JNCL suggest overlapping with other NCL forms. Pediatric Neurology, 18, 36–40.

    Article  PubMed  Google Scholar 

  • Zhang, Z., Butler, J. D., Levin, S. W., Wisniewski, K. E., Brooks, S. S., & Mukherjee, A. B. (2001). Lysosomalceroid depletion by drugs: therapeutic implications for a hereditary neurodegenerative disease of childhood. Nature Medicine, 7, 478–484.

    Article  PubMed  Google Scholar 

Download references

Acknowledgments

In memory of Dr. Krystyna Wisniewski and of all her dedication in studying Batten Disease.

Competing Interest

All authors haven’t any conflicts of interest or financial interest. All authors attest and affirm that the material within has not been and will not be submitted for publication elsewhere.

Author information

Authors and Affiliations

  1. Bioengineering Department, Politecnico di Milano, P.zza Leonardo Da Vinci 32, 20133, Milan, Italy

    M. Galli & V. Cimolin

  2. IRCCS “San Raffaele Pisana”, Tosinvest Sanità, Rome, Italy

    M. Galli & G. Albertini

  3. New York State Institute for Basic Research in Developmental Disabilities, New York, USA

    D. Ferrario, P. Patti, R. Freedland, M. Gavin, M. T. Velinov, G. Heaney & W. T. Brown

  4. SUNY Downstate Medical Center, Brooklyn, New York, USA

    D. Ferrario & R. Freedland

Authors
  1. M. Galli
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. D. Ferrario
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. P. Patti
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. R. Freedland
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. V. Cimolin
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. M. Gavin
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. M. T. Velinov
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. G. Heaney
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. W. T. Brown
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. G. Albertini
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to V. Cimolin.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Galli, M., Ferrario, D., Patti, P. et al. The Use of 3d Motion Analysis in a Patient with an Atypical Juvenile Neuronal Ceroid Lipofuscinoses Phenotype with CLN1 Mutation and Deficient PPT Activity. J Dev Phys Disabil 24, 155–165 (2012). https://doi.org/10.1007/s10882-011-9263-z

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10882-011-9263-z

Keywords

Search

Navigation