1Department of Neurology, Soonchunhyang University Hospital, Soonchunhyang University School of Medicine, Seoul, Korea
2Department of Neurology, Sungkyunkwan University School of Medicine, Seoul, Korea
3Neuroscience Center, Samsung Medical Center, Seoul, Korea
Copyright © 2015 The Korean Movement Disorder Society
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Disease | Gene/product | Case | Clinical manifestations | Mutation confirmed |
---|---|---|---|---|
FRDA | FXN/frataxin | Heo et al. [54] | Optic atrophy as the initial clinical manifestation | No |
Lee et al. [55] | Hearing difficulty, gait ataxia, scoliosis, proprioceptive loss | No | ||
AT | ATM/ATM protein | Jeong et al. [56] | Early onset ataxia, oculomotor apraxia, polyneuropathy, telangiectasia | Yes |
Huh et al. [57] | Early onset ataxia, oculomotor apraxia, telangiectasia | Yes | ||
Song et al. [58] | Early onset ataxia, frequent infections, telangiectasia | No | ||
Kang et al. [59] | Early onset ataxia, oculomotor apraxia, dysarthria, telangiectasia | No | ||
CTX | CYP27A1/sterol-27 hydroxylase | Hwang et al. [60] | Ataxia, xanthomas, dementia, cranial nerve palsy, pyramidal signs, cataracts | No |
Suh et al. [61] | Xanthomas, cataract, osteopenia, mental retardation, ataxia, neuropathy | Yes | ||
ARSACS | SACS/sacsin | Unpublished | Early onset ataxia, spasticity, distal amyotrophy with foot deformity | Yes |
FXTAS | FMR1/FMRP protein | Ehm et al. [62] | Gait ataxia, parkinsonism, mood disorder, high signal in MCP | Yes |
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