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Leukoencephalopathy with mild cerebellar ataxia and white matter edema(LKPAT)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Brain white matter edema; Leukoencephalopathy with ataxia; Leukoencephalopathy with white matter edema; LKPAT
SNOMED CT: Leukoencephalopathy with mild cerebellar ataxia and white matter edema (768663003); CLCN2-related leukoencephalopathy (768663003); Leukoencephalopathy with ataxia (768663003); CLCN2 (chloride voltage-gated channel 2) related leukoencephalopathy (768663003)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
Concept ID:
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Gene (location): CLCN2 (3q27.1)
Monarch Initiative: MONDO:0014292
OMIM®: 615651
Orphanet: ORPHA363540

Disease characteristics

Excerpted from the GeneReview: CLCN2-Related Leukoencephalopathy
CLCN2-related leukoencephalopathy is characterized by nonspecific neurologic findings, mild visual impairment from chorioretinopathy or optic atrophy, male infertility, and characteristic findings on brain MRI. Neurologic findings include mild ataxia (action tremor and gait instability following initially normal motor development; occasionally, mild spasticity), cognitive impairment in some (typically mild, rarely severe), psychiatric symptoms in some (depression and schizophrenia-like symptoms), headaches in some (usually intermittent, severe, and diffuse) and auditory symptoms in some (hearing loss, tinnitus, vertigo). Affected individuals remain ambulatory, do not require support for walking, and rarely become blind. To date CLCN2-related leukoencephalopathy has been reported or identified in 31 individuals from 30 families. It is not yet known if the findings occurring in a few individuals (i.e., epilepsy and paroxysmal kinesigenic dyskinesia) are part of the phenotypic spectrum or unrelated findings. [from GeneReviews]
Rogier Min  |  Christel Depienne  |  Frederic Sedel, et. al.   view full author information

Additional description

Leukoencephalopathy with ataxia is an autosomal recessive neurologic disorder with a characteristic pattern of white matter abnormalities on brain MRI. Affected individuals have prominent signal abnormalities and decreased apparent diffusion coefficient (ADC) values in the posterior limbs of the internal capsules, middle cerebral peduncles, pyramidal tracts in the pons, and middle cerebellar peduncles. The findings suggest myelin microvacuolation restricted to certain brain regions. Clinical features include ataxia and unstable gait; more variable abnormalities may include visual field defects, headaches, and learning disabilities (summary by Depienne et al., 2013).  http://www.omim.org/entry/615651

Clinical features

From HPO
MedGen UID:
Concept ID:
Sign or Symptom
Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.
Action tremor
MedGen UID:
Concept ID:
Sign or Symptom
A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement.
MedGen UID:
Concept ID:
Disease or Syndrome
This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells.
Limb ataxia
MedGen UID:
Concept ID:
A kind of ataxia that affects movements of the extremities.
Gait ataxia
MedGen UID:
Concept ID:
Sign or Symptom
A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.
MedGen UID:
Concept ID:
Disease or Syndrome
Splitting of the neuroretinal layers of the retina.
Choroidal neovascularization
MedGen UID:
Concept ID:
Pathologic Function
Choroidal neovascularization (CNV) is the creation of new blood vessels in the choroid layer of the eye.
Optic neuropathy
MedGen UID:
Concept ID:
Disease or Syndrome
Disorder of the optic nerve.
Visual field defect
MedGen UID:
Concept ID:
An absolute or relative reduction in the extent of the normal field of vision.
Chorioretinal atrophy
MedGen UID:
Concept ID:
Disease or Syndrome
Atrophy of the choroid and retinal layers of the fundus.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLeukoencephalopathy with mild cerebellar ataxia and white matter edema

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