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GENATLAS PHENOTYPE
last update : 27-02-2024
Symbol SCA4
Location 16q22.1
HGNC id 10557
Name spinocerebellar ataxia 4
Other name(s) spinocerebellar ataxia, autosomal dominant, with sensory axonal neuropathy
Corresponding gene ZFHX3
Other symbol(s) ADCA3
Main clinical features
  • cerebellar atrophy type I
  • ataxia, dysarthria, dysmetria, intention tremor associated with predominantly sensory findings, progressive sensorineural hearing impairment; onset of balance disturbances and gait and limb ataxia usually in the fourth decade; also slowness of horizontal saccades, and dysautonomia was a common sign (it mostly manifested with symptomatic orthostatic hypotension)
  • slowly progressive, and most patients eventually become wheelchair-bound; additional features include hypometric or slow saccades, sensory or sensorimotor axonal peripheral neuropathy, dysarthria, and autonomic dysfunction, including orthostatic hypotension and problems with bowel or bladder control
    • Genetic determination autosomal dominant
    Related entries including spinocerebellar ataxia 4, pure, Japanese (OMIM : 117210)
    Function/system disorder neurology
    Type disease
    Gene product
    Name puratrophin 1
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     16C>T substitution , mostly frequent
    Remark(s)
  • exonic GGC trinucleotide repeat expansions, encoding poly-glycine, in zinc finger homeobox 3, (42–74 repeats) (PMID: 38035881))