1. Neuronal ceroid lipofuscinosis 11 (CLN11) presenting with early-onset cone-rod dystrophy and learning difficulties.
- Author
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Maximiano-Alves G, do Amaral Moreto Caravelas R, Gonçalves TAP, Corniani KF, Nather JC, Geraldi-Tomaselli CV, Frezatti RSS, Fernandes RMF, Dos Santos AC, Marques W, and Tomaselli PJ
- Subjects
- Humans, Male, Young Adult, Cone-Rod Dystrophies genetics, Cone-Rod Dystrophies diagnosis, Phenotype, Exome Sequencing, Frameshift Mutation, Adult, Neuronal Ceroid-Lipofuscinoses genetics, Neuronal Ceroid-Lipofuscinoses complications, Neuronal Ceroid-Lipofuscinoses diagnosis, Learning Disabilities genetics
- Abstract
Neuronal Ceroid Lipofuscinosis 11 (CLN11) is an ultra-rare subtype of adult-onset Neuronal Ceroid Lipofuscinosis. Its phenotype is variable and not fully known. A 21-year-old man was evaluated in our neurogenetic outpatient clinic for early onset complex phenotype, including learning difficulties, cerebellar ataxia, cone-rod dystrophy, epilepsy, and dystonia. The patient was submitted to neurological and neuropsychological assessment, neuro-ophthalmological tests, brain MRI, EEG and whole exome sequencing. A homozygous frameshift variant (NM_002087.4: c.768_769dup; p.Gln257Profs*27) was found. Distinct type descriptions, as in this case, increase the clinical spectrum of the disease., Competing Interests: Declarations. Ethics and consent for publication: Written informed consent was obtained from the patient’s mother for publication and video recording. The local ethics committee approved this study: CAAE 33838220.9.0000.5440. Permission to reuse and copyright: No figures were taken from any journals, websites, or other sources. Competing interests: The authors declare no competing interests., (© 2025. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)
- Published
- 2025
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