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Autosomal recessive spastic paraplegia type 11

Disease definition

A complex hereditary spastic paraplegia characterized by progressive lower limbs weakness and spasticity, upper limbs weakness, dysarthria, hypomimia, sphincter disturbances, peripheral neuropathy, learning difficulties, cognitive impairment and dementia. Magnetic resonance imaging shows thin corpus callosum, cerebral atrophy, and periventricular white matter changes.


Classification level: Disorder
  • Synonym(s):
    • Nakamura-Osame syndrome
    • SPG11
    • Spastic paraplegia-intellectual disability-thin corpus callosum syndrome
  • Prevalence: -
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Childhood, Adolescent, Adult
  • ICD-10: G11.4
  • ICD-11: 8B44.01
  • OMIM: 604360
  • UMLS: C2931821
  • MeSH: C537483  C538335
  • GARD: 4919
  • MedDRA: -

Detailed information

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Disease review articles


ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)
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