Orphanet: Autosomal recessive spastic paraplegia type 15

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Autosomal recessive spastic paraplegia type 15

Disease definition

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.

ORPHA:100996

Classification level: Disorder

Synonym(s):
- Hereditary spastic paraparesis type 15
- Kjellin syndrome
- SPG15
- Spastic paraplegia-retinal degeneration syndrome
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Childhood, Adolescent, Adult
ICD-10: G11.4
OMIM: 270700
UMLS: C1849128
MeSH: C536642
GARD: 9581
MedDRA: -

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Autosomal recessive spastic paraplegia type 15

ORPHA:100996

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