Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 09-07-2010
Symbol SCA28
Location 18p11.21
Name spinocerebellar ataxia 28
Corresponding gene AFG3L2
Main clinical features
  • juvenile-onset spinocerebellar ataxia , age at onset was 19.5 years ( with unbalanced standing and gait abnormalities
  • limb ataxia, dysarthria, slow and lower limb hyperreflexia; eye movement abnormalities with dysmetric saccades, slow saccades, ophthalmoparesis, and ptosis
  • slowly progressive, and there was no evidence of sensory involvement or cognitive impairment; at MRI cerebellar atrophy
    • Genetic determination autosomal dominant
    Prevalence at least 3p 100 of SCAs with unknown defects (Di Bella 2010)
    Function/system disorder neurology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function  
    Remark(s)