Leukoencephalopathy with Ataxia (LKPAT)

External Ids:

OMIM®: ⁵⁷ 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). (615651) (Updated 08-Dec-2022)

MalaCards based summary: Leukoencephalopathy with Ataxia, also known as lkpat, is related to clcn2-related leukoencephalopathy and leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, and has symptoms including headache and gait ataxia. An important gene associated with Leukoencephalopathy with Ataxia is CLCN2 (Chloride Voltage-Gated Channel 2). Affiliated tissues include pons and brain, and related phenotypes are optic neuropathy and visual field defect

UniProtKB/Swiss-Prot: ⁷³ 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 values in the posterior limbs of the internal capsules, middle cerebral peduncles, pyramidal tracts in the pons, and middle cerebellar peduncles, suggesting myelin microvacuolation. Clinical features include ataxia and unstable gait. More variable abnormalities may include visual field defects, headaches, and learning disabilities.

Clinical features from OMIM®:

Search Clinical Trials, NIH Clinical Center for Leukoencephalopathy with Ataxia