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Journal of Inherited Metabolic Disease

, Volume 35, Issue 3, pp 549–555 | Cite as

Females experience a more severe disease course in batten disease

  • Jennifer Cialone
  • Heather Adams
  • Erika F. Augustine
  • Frederick J. Marshall
  • Jennifer M. Kwon
  • Nicole Newhouse
  • Amy Vierhile
  • Erika Levy
  • Leon S. Dure
  • Katherine R. Rose
  • Denia Ramirez-Montealegre
  • Elisabeth A. de Blieck
  • Jonathan W. Mink
Original Article

Abstract

Juvenile neuronal ceroid lipofuscinosis (JNCL; CLN3 disease; Batten disease) is an autosomal recessive neurodegenerative disease of childhood. Symptoms typically present at school age with vision loss followed by progressive cognitive decline, motor dysfunction, seizures, and behavior problems. Studies on sex differences in JNCL have yielded mixed results, but parent anecdotes suggest that females experience a more precipitous disease course. Therefore, we sought to determine if sex-based differences exist in JNCL. We used data from the Unified Batten Disease Rating Scale (UBDRS), the Batten Disease Support and Research Association (BDSRA) database, and the PedsQL quality of life (QoL) survey to evaluate sex-based differences in functional independence and time from symptom onset to death. On average, females had JNCL symptom onset one year later and death one year earlier than did males. Despite a later age at onset, females had lower functional capability, earlier loss of independent function, and lower physical QoL. Future research in sex differences in JNCL may help to further understand the biological mechanisms underpinning the disease course and may point to targeted therapies.

Keywords

Symptom Onset Vision Loss Intelligible Speech Neuronal Ceroid Lipofuscinoses Batten Disease 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Notes

Acknowledgments

The authors would like to thank Paul Rothberg, PhD for his contributions to genetic data. We also thank the patients and families. The project described was supported by Award Number U54NS065768 from the National Institute of Neurological Disorders and Stroke. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institute of Neurological Disorders and Stroke or the National Institutes of Health." This work was also supported by NIH Grants R01NS060022, K12NS066098, K23NS058756, and TL1RR024136, the Batten Disease Support and Research Association, the Strong Children's Research Center, and the Geoffrey Waasdorp Pediatric Neurology Fund.

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Copyright information

© SSIEM and Springer 2011

Authors and Affiliations

  • Jennifer Cialone
    • 1
  • Heather Adams
    • 1
  • Erika F. Augustine
    • 1
  • Frederick J. Marshall
    • 1
  • Jennifer M. Kwon
    • 1
  • Nicole Newhouse
    • 1
  • Amy Vierhile
    • 1
  • Erika Levy
    • 1
  • Leon S. Dure
    • 1
  • Katherine R. Rose
    • 1
  • Denia Ramirez-Montealegre
    • 1
  • Elisabeth A. de Blieck
    • 1
  • Jonathan W. Mink
    • 1
    • 2
  1. 1.University of RochesterRochesterUSA
  2. 2.RochesterUSA

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