Details of Disease

General Information of Disease (ID: DIS44BT3)

• Disease Name: Spastic ataxia 2
• Synonyms: autosomal recessive spastic paraplegia type 58; spastic ataxia 2, autosomal recessive; SPAX2; KIF1C spastic ataxia; SPG58; spastic ataxia 2; autosomal recessive spastic ataxia type 2; spastic ataxia type 2; spastic ataxia caused by mutation in KIF1C
• Definition: Autosomal recessive spastic paraplegia type 58 is a rare, complex subtype of hereditary spastic paraplegia characterized by variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (i.e. clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (e.g. nystagmus) and distal amyotrophy in the upper and lower limbs.
• Disease Hierarchy:
  DISIRRA9: Spastic ataxia
  DIS9KXQY: Complex hereditary spastic paraplegia
  DIS44BT3: Spastic ataxia 2
• Disease Identifiers:
  MONDO ID: MONDO_0012651
  MESH ID: C566969
  UMLS CUI: C1969796
  OMIM ID: 611302
  MedGen ID: 370750
  Orphanet ID: 397946

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KIF1C	OTKYLP1Q	Strong	Autosomal recessive	[1]

References

• [1] KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction. J Med Genet. 2014 Feb;51(2):137-42. doi: 10.1136/jmedgenet-2013-102012. Epub 2013 Dec 6.