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Start free with EleplanKjellin syndrome
ORPHA:100996Disease
Also called Autosomal recessive spastic paraplegia type 15 · Hereditary spastic paraparesis type 15 · SPG15 · Spastic paraplegia-retinal degeneration syndrome
What it is
Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Adolescent, Adult, Childhood
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Common30–79%
25- Abnormal cerebellum morphology
- Abnormal cerebral white matter morphology
- Abnormality of extrapyramidal motor function
- Babinski sign
- Cognitive impairment
- Deep cerebral white matter hyperdensities
- Demyelinating peripheral neuropathy
- Dysarthria
- Functional abnormality of the bladder
- Gait disturbance
- Intellectual disability
- Leg muscle stiffness
- Lower limb hyperreflexia
- Lower limb spasticity
- Muscle weakness
- Nystagmus
- Peripheral axonal neuropathy
- Pigmentary retinopathy
- Pseudobulbar paralysis
- Retinal flecks
- Spasticity
- Spastic paraplegia
- Upper limb muscle weakness
- Upper limb spasticity
- Yellow/white lesions of the retina
Sometimes5–29%
12- Abnormality of eye movement
- Atypical behavior
- Dementia
- Diabetes mellitus
- Distal amyotrophy
- Frontotemporal dementia
- Hand tremor
- Impaired vibratory sensation
and 4 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
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
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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