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GENATLAS PHENOTYPE
last update : 22-05-2017
Symbol SPG75
Location 19q13.12
Name spastic paraplegia 75, autosomal recessive
Corresponding gene MAG
Main clinical features
  • slowly progressive neurodegenerative disorder characterized by onset of spastic paraplegia and cognitive impairment in childhood
  • spastic gait at about 3 years of age; in late childhood, they had difficulty walking with support associated to cerebellar signs, nystagmus, and clonus; brain MRI was normal or with mild atrophy of the corpus callosum and cerebellum
  • also spastic dysarthria, distal leg atrophy, and impaired distal vibration sensation, suggesting a peripheral neuropathy
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Remark(s)