GTR Home > Conditions/Phenotypes > Leukoencephalopathy with vanishing white matter
Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease (CACH/VWM) is characterized by ataxia, spasticity, and variable optic atrophy. The phenotypic range includes a prenatal/congenital form, a subacute infantile form (onset age <1 year), an early childhood onset form (onset age 1-5 years), a late childhood /juvenile onset form (onset age 5-15 years), and an adult onset form. The prenatal/congenital form is characterized by severe encephalopathy. In the later onset forms initial motor and intellectual development is normal or mildly delayed followed by neurologic deterioration with a chronic progressive or subacute course. Chronic progressive decline can be exacerbated by rapid deterioration during febrile illnesses or following head trauma or major surgical procedures, or by acute psychological stresses such as extreme fright.

Available tests

77 tests are in the database for this condition. Compare labs offering these tests.

Check Associated genes for additional relevant tests.

Associated genes

  • Also known as: EIF2B, EIF2BA, EIF2B1
    Summary: eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa

  • Also known as: EIF-2Bbeta, EIF2B, EIF2B2
    Summary: eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa

  • Also known as: RP5-882O7.2, EIF-2B, EIF2Bgamma, EIF2B3
    Summary: eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa

  • Also known as: EIF-2B, EIF2B, EIF2Bdelta, EIF2B4
    Summary: eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa

  • Also known as: CACH, CLE, EIF-2B, EIF2Bepsilon, LVWM, EIF2B5
    Summary: eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa

Clinical features

  • Unsteady gait
  • Dysarthria
  • CNS demyelination
  • Decreased serum progesterone
  • Primary gonadal insufficiency
  • Seizure
  • Memory impairment
  • Macrocephaly
  • Cerebral hypomyelination
  • Blindness
  • Optic atrophy
  • Emotional lability
  • Delusions
  • Personality changes
  • Secondary amenorrhea
  • Muscular hypotonia
  • Lethargy
  • Spasticity
  • Leukoencephalopathy
  • Developmental regression
  • Cessation of head growth
  • Premature ovarian failure
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