Neuronal ceroid lipofuscinosis 11 (CLN11) presenting with early-onset cone-rod dystrophy and learning difficulties

Neurogenetics. 2025 Jan 15;26(1):20. doi: 10.1007/s10048-025-00800-3.

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.

Keywords: CLN11; Deep phenotyping; Lipofuscinosis.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Cone-Rod Dystrophies / diagnosis
  • Cone-Rod Dystrophies / genetics
  • Exome Sequencing
  • Frameshift Mutation
  • Humans
  • Learning Disabilities* / genetics
  • Male
  • Neuronal Ceroid-Lipofuscinoses* / complications
  • Neuronal Ceroid-Lipofuscinoses* / diagnosis
  • Neuronal Ceroid-Lipofuscinoses* / genetics
  • Phenotype
  • Young Adult