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References OMIM Gene GeneReviews HGMD HGNC
last update : 11-10-2016
Symbol SCA43
Location 3q25.2
Name spinocerebellar ataxia 43
Corresponding gene MME
Main clinical features
  • slowly progressive neurologic disorder characterized by adult-onset gait and limb ataxia and often associated with peripheral neuropathy mainly affecting the motor system
  • adult-onset spinocerebellar ataxia and peripheral neuropathy
  • EMG showed a severe motor neuropathy with preserved sensory responses; nerve conduction velocities were normal; brain imaging showed moderate cerebellar vermis atrophy; sural nerve biopsy showed a prominent reduction of large and medium myelinated axons
  • Genetic determination autosomal dominant
    Function/system disorder neuromuscular
    Type disease