Females experience a more severe disease course in batten disease

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. Stud...

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Bibliographic Details
Published in:	Journal of inherited metabolic disease 2012-05, Vol.35 (3), p.549-555
Main Authors:	Cialone, Jennifer, Adams, Heather, Augustine, Erika F., Marshall, Frederick J., Kwon, Jennifer M., Newhouse, Nicole, Vierhile, Amy, Levy, Erika, Dure, Leon S., Rose, Katherine R., Ramirez-Montealegre, Denia, de Blieck, Elisabeth A., Mink, Jonathan W.
Format:	Article
Language:	eng
Subjects:	Adolescent Adult Age of Onset Biochemistry Biological and medical sciences Child Child Behavior Disorders - diagnosis Child, Preschool Cognition Disorders - diagnosis Databases, Factual Female Human Genetics Humans Infant Internal Medicine Male Medical genetics Medical sciences Medicine Medicine & Public Health Metabolic Diseases Neuronal Ceroid-Lipofuscinoses - diagnosis Neuronal Ceroid-Lipofuscinoses - mortality Neuronal Ceroid-Lipofuscinoses - physiopathology Original Article Pediatrics Quality of Life Seizures - diagnosis Severity of Illness Index Sex Factors Treatment Outcome Vision Disorders - diagnosis
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Summary:	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.
ISSN:	0141-8955 1573-2665