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GENATLAS PHENOTYPE
last update : 29/01/2013
Symbol SPG46
Location 9p13.3
HGNC id 18986
Name Spastic paraplegia 46
Other name(s)
  • hereditary spastic paraplegia with thin corpus callosum and mental impairment PMID:23332916
  • autosomal-recessive cerebellar ataxia with spasticity PMID:23332917
  • autosomal-recessive spastic ataxia
    • Corresponding gene GBA2
    Main clinical features
  • early-onset spastic paraplegia with mild handicap, mental deterioration, congenital cataract, cerebellar ataxia, cerebral, cerebellar, and corpus callosum atrophy PMID:20593214
  • bilateral testicular hypotrophy, extremely severe spermatozoid head abnormalities with necrospermia and severe reduction in velocity PMID:20593214
  • childhood- or juvenile-onset cerebellar ataxia with a pyramidal syndrome that consisted of spasticity involving initially the lower limbs and later also the upper limbs, brisk reflexes, extensor plantars, and Hoffman sign PMID:23332917
  • ophthalmoparesis with a jerky pursuit and slow saccades, pes cavus and scoliosis, axonal sensory or sensory-motor neuropathy, and mild intellectual disability PMID:23332917
  • global cerebral, cerebellar, corpus callosum, and spinal cord atrophy PMID:23332917
    • Genetic determination autosomal recessive
    Function/system disorder
    Type disease
    Gene product
    Name glucosidase, beta (bile acid) 2
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function c.1888C>T, p.Arg630Trp PMID:23332916
    nonsense   truncated protein c.518G>A, p.Trp173∗; c.700C>T, p.Arg234∗ PMID:23332916
    duplication     c.1471_1474dupGGCA, p.Thr492Argfs∗9 PMID:23332916
    nonsense   truncated protein c.363C>A, p.Tyr121∗ and c.1018C>T, p.Arg340∗ PMID:23332917
    missense   abnormal protein/loss of function c.2618G>A, p.Arg873His PMID:23332917
    Remark(s)