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GENATLAS PHENOTYPE
last update : 17-04-2020
Symbol SPG7
Location 16q24.3
Name spastic paraplegia 7
Corresponding gene SPG7
related resource MITOP database
Main clinical features
  • progressive spastic ataxia with evidence of cerebellar atrophy on brain MRI
  • pure and complicated forms
  • complicated phenotype, combining ataxia and progressive external ophthalmoplegia (65% and 26%, respectively): parkinsonism was observed in 21% of cases
  • late onset characterized by optic, cortical and cerebellar atrophy with amyotrophy, sensori-motor peripheral neuropathy
  • associated with raised creatine kinase, and a defect in oxidative phosphorylation (deficiency in respiratory complex 1)
  • variably associated with mitochondrial abnormalities on skeletal muscle biopsy and dysarthria, dysphagia, optic disc pallor, axonal neuropathy, and evidence of “vascular lesions”, cerebellar atrophy, or cerebral atrophy on cranial MRI
  • presence of cerebello-cortical dysregulation in different networks involved in cognition and social functioning in SPG7 patients (PMID: 32161564))
  • Genetic determination autosomal recessive
    Prevalence less than 5p100 of hereditary spastic paraplegia
    Function/system disorder neurology
    eye
    Type disease
    Gene product
    Name paraplegin (SPG7)
    Remark(s) . slowing of the vertical saccades may belong to the phenotype of SPG7 and may serve as a valuable biomarker for differentiation from spastic ataxias and atypical parkinsonism (PMID: 32161564))