A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT)
2017
ClC-2 is a plasma membrane
chloride channelwith widespread expression in the human body, including the brain. Its function is still being studied, although it is thought to have a role in ion and water homoeostasis in the brain. ClC-2 is part of a complex containing GlialCAM and MLC1. Both these genes are associated with autosomal recessive human
leukodystrophieswith intramyelinic oedema. Biallelic mutations in
CLCN2, encoding the ClC-2 channel, have been reported in patients with a rare form of
leukoencephalopathywith ataxia (LKPAT; MIM #615651). No peculiar neurological features have been reported for this disease, although slight visual impairment due to chorioretinopathy or optic atrophy, mild ataxia, learning disabilities, and headaches are recurrent symptoms in patients. However, MRI shows a typical diagnostic pattern that consists of white matter signal abnormalities in the posterior limbs of the
internal capsules,
cerebral peduncles, pontine
pyramidal tractsand in the
middle cerebellar peduncles, associated with lower apparent diffusion coefficient values in most cases. Specific anomalies of
brainstem auditory evoked potentials(BAEP) have also been described.1–3 Here, we report on a 52-year-old Moroccan woman presenting with mild and asymptomatic bilateral optic atrophy detected at a routine ophthalmological examination for
presbyopia. Best-corrected high-contrast visual acuity was 20/20 in both eyes. Anterior segment and intraocular pressures were normal, and
pupillary reflexeswere present. On fundus biomicroscopy, mild
pallorand excavation of the optic …
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