Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2012 May;35(3):549-55.
doi: 10.1007/s10545-011-9421-6. Epub 2011 Dec 14.

Females experience a more severe disease course in Batten disease

Jennifer Cialone  1 , 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
Affiliations

Females experience a more severe disease course in Batten disease

Jennifer Cialone et al. J Inherit Metab Dis. 2012 May.

Erratum in

  • J Inherit Metab Dis. 2012 May;35(3):559

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.

PubMed Disclaimer

Figures

Figure 1
Figure 1. Disease onset was one year later in girls
Mean age at onset was 6.2 +/− 1.4 years in females (N=30) and 5.2 +/− 1.0 years in males (N=30), t(60)=3.08 (p=0.003). □ = mean. Box=mean +/− SD. Whiskers= mean +/− 1.96*SD.
Figure 2
Figure 2. Females had a later age at onset of vision loss and behavior problems
Histogram of the distribution of age at onset in females (A) and males (B) for vision loss, cognitive decline, seizures, behavior problems, and motor impairment.
Figure 2
Figure 2. Females had a later age at onset of vision loss and behavior problems
Histogram of the distribution of age at onset in females (A) and males (B) for vision loss, cognitive decline, seizures, behavior problems, and motor impairment.
Figure 3
Figure 3. At all ages, females had a lower average Functional Capability score
Median UBDRS Functional Capability scores were determined from subjects’ most recent assessments (Female N=37, Male N=40). Lower scores reflect lower capability. Females ( formula image) had overall lower scores than did males ( formula image) but there was no difference in rate of decline. Female linear fit: y = −1.2x + 31. Male linear fit: y=−1.2 +32.
Figure 4
Figure 4. Females lost independent ADLs earlier in the disease course
Kaplan-Meier survival curve of female (solid line) and male (dotted line) loss of independent ADLs, p=0.005. Females = --------- Males = ‑ ‑ ‑ ‑
Figure 5
Figure 5. Females had significantly lower physical QoL
Mean physical QoL was 28.09 +/− 28.46 in females (N=22) and 49.37 +/− 31.25 in males (N=27), t(47)= −2.47 (p=0.02). □ = mean. Box=mean +/− SD. Whiskers= mean +/− 1.96*SD.
Figure 6
Figure 6. Females had an earlier age at death
Mean age at death was 20.95 +/− 4.46 years in females (N=128) and 22.21 +/− 4.20 years in males (N=98), t(224) = −2.17 (p-0.03). □ = mean. Box=mean +/− SD. Whiskers= mean +/− 1.96*SD.
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. Aberg LE, Tiitinen A, Åutti TH, Kivisaari L, Santavouri P. Hyperandrogenism in girls with juvenile neuronal ceroid lipofuscinosis. Eur J Paediatr Neurol. 2002;6:199–205. - PubMed
    1. Adams HR, Beck CA, Levy E, et al. Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (batten disease) Dev Med Child Neurol. 2010;52:637–643. - PMC - PubMed
    1. Adams HR, Kwon J, Marshall FJ, de Blieck EA, Pearce DA, Mink JW. Neuropsychological symptoms of juvenile-onset batten disease: Experiences from 2 studies. J Child Neurol. 2007;22:621–627. - PMC - PubMed
    1. Bäckman ML, Santavuori PR, Åberg LE, Aronen ET. Psychiatric symptoms of children and adolescents with juvenile neuronal ceroid lipofuscinosis. J Intellect Disabil Res. 2005;49:25–32. - PubMed
    1. Boustany R-M. Batten disease or neuronal ceroid lipofuscinosis. In: Moser HW, editor. Handbook of clinical neurology. 66. Vol. 22. Elsevier Science B.V; 1996. pp. 671–700.

Publication types

MeSH terms