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Table 1 Clinical manifestations of POLR3-related leukodystrophy patients

From: Novel mutations of the POLR3A gene caused POLR3-related leukodystrophy in a Chinese family: a case report

  Classical manifestations Rare manifestation
Neurology Cerebellar features: gait ataxia, dysarthria, dysmetria, tremor, nystagmus, swallowing deterioration; cognitive degression; pyramidal signs Microcephaly; seizures; extrapyramidal signs; dystonia
 Dental natal teeth, delayed dentition, abnormal order of teeth eruption, hypodontia  
 Endocrine hypogonadotropic hypogonadism with delayed, arrested or absent puberty; short stature late-onset GH deficiency
 Ocular myopia Cataract; optic atrophy
 Bone short status Osteosclerosis; hyperostosis frontalis; thick frontal bones; Vertebral Anomalies
 Bladder   chronic bladder dysfunction
Brain MRI imaging
 Hypomyelination ventrolateral thalamus, optic radiation, globus pallidus, pyramidal tracts within the posterior limb of the internal capsule and dentate nucleus selective hypomyelination of the corticospinal tracts; cerebellar atrophy with or without focal hypomyelination; Involvement of the striata and red nuclei; supratentorial and infratentorial; peripheral hypomyelination
 Atrophy Cerebellar; thinning of the corpus callosum cortical
 MR spectroscopic abnormality   decrease of choline-containing compounds;increased myoinositol