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GENATLAS PHENOTYPE
last update : 08-10-2013
Symbol SPG9
Location 10q24.1
HGNC id 11239
Name spastic paraparesis 9
Other name(s) cataracts with motor neuronopathy, short stature, and skeletal abnormalities
Corresponding gene ALDH18A1
Other symbol(s) SPG9A
Main clinical features
  • onset of slowly progressive spasticity mainly affecting the lower limbs; the age at onset usually ranges from adolescence to adulthood, and patients have gait difficulties, motor neuropathy, and dysarthria
  • complicated spastic paraplegia associated with cataracts, gastroesophageal reflux, and motor neuronopathy
  • cataracts and motor neuronopathy with upper motor neuron signs, short stature, developmental delay, and skeletal abnormalities
  • Genetic determination autosomal dominant
    Function/system disorder eye
    neuromuscular
    neurology
    Type disease
    Remark(s)
  • recurrent de novo mutations, affecting the highly conserved residue Arg138 of ALDH18A1, cause an autosomal-dominant form of cutis laxa with progeroid features (PMID: 26320891))