title: Females experience a more severe disease course in Batten disease.
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.
authors.affiliation: University of Rochester, Rochester, NY, USA.
authors.forename: Jennifer
authors.initials: J
authors.lastname: Cialone
authors.forename: Heather
authors.initials: H
authors.lastname: Adams
authors.forename: Erika F
authors.initials: EF
authors.lastname: Augustine
authors.forename: Frederick J
authors.initials: FJ
authors.lastname: Marshall
authors.forename: Jennifer M
authors.initials: JM
authors.lastname: Kwon
authors.forename: Nicole
authors.initials: N
authors.lastname: Newhouse
authors.forename: Amy
authors.initials: A
authors.lastname: Vierhile
authors.forename: Erika
authors.initials: E
authors.lastname: Levy
authors.forename: Leon S
authors.initials: LS
authors.lastname: Dure
authors.forename: Katherine R
authors.initials: KR
authors.lastname: Rose
authors.forename: Denia
authors.initials: D
authors.lastname: Ramirez-Montealegre
authors.forename: Elisabeth A
authors.initials: EA
authors.lastname: de Blieck
authors.forename: Jonathan W
authors.initials: JW
authors.lastname: Mink
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002648:Child; D002653:Child Behavior Disorders / Q000175:diagnosis; D002675:Child, Preschool; D003072:Cognition Disorders / Q000175:diagnosis; D016208:Databases, Factual; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis* / Q000401:mortality / Q000503:physiopathology*; D011788:Quality of Life; D012640:Seizures / Q000175:diagnosis; D012720:Severity of Illness Index; D012737:Sex Factors; D016896:Treatment Outcome; D014786:Vision Disorders / Q000175:diagnosis