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ORPHA:1947Clinical subtype
Also called CLN8 disease, Northern epilepsy variant · NCL, Northern epilepsy variant · Neuronal ceroid lipofuscinosis, Northern epilepsy variant · Progressive epilepsy-intellectual disability syndrome, Finnish type
What it is
Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.
Key facts
- Age of onset
- Childhood
- Inheritance
- Autosomal recessive
- Classified as
- Clinical subtype
Recorded for the broader condition
- Prevalence
- <1 / 1 000 000CLN8 disease
Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.
Signs and symptoms
Very common80–99%
7Common30–79%
23- Abnormality of pattern visual evoked potentials
- Abnormality of speech or vocalization
- Ataxia
- Cerebral atrophy
- Clumsiness
- Cognitive impairment
- Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
- Delayed speech and language development
- Difficulty standing
- EEG with abnormally slow frequencies
- EEG with generalized epileptiform discharges
- Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
- Gait ataxia
- Generalized myoclonic seizure
- Loss of speech
- Motor deterioration
- Motor regression
- Optic disc pallor
- Progressive visual loss
- Spastic tetraplegia
- Spontaneous abortion
- Undetectable electroretinogram
- Unsteady gait
Sometimes5–29%
10- Atypical behavior
- Autistic behavior
- Dementia
- Dysphagia
- Focal impaired awareness seizure
- Frequent falls
- Gastrostomy tube feeding in infancy
- Global developmental delay
and 2 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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