top of page
Batten disease
Loss of Function

Batten disease

  • Genotype

    Cln3 KO

  • Mechanism

    Loss of Function

  • Phenotype

    Vision impairment, Cognitive decline, Social isolation, Seizures, Tremors, Motor coordination, Psychosis

  • Biomarker

    Cathepsin D, NfL, BDNF, Total tau, GFAP

  • Gene Expression Markers

    LAMP1, LAMP2, CTSD, SQSTM1, MAP1LC3B ,SOD1,GPX1, CAT, BDNF, SYN1, DLG4 

  • Physiology Changes

    Muscle spasticity, Rigidity, Arrhythmia, EEG - EEG slowing, Spike and wave discharges, Reduced REM sleep, Abnormal local field potentials  

  • Histology Grading Endpoint

    Intracellular accumulation of lipofuscin, Neuronal and photoreceptor loss, Reduced synaptic density, Marked astrocytosis, Enlarged lysosomes with storage material

bottom of page