Disorder | Distinguishing features | Gene or locus | Protein |
SCAN1* | Ataxia, neuropathy, oculomotor apraxia, hypoalbuminemia | TDP1 | Topoisomerase 1-dependent DNA damage repair enzyme |
SCAN2/AOA2* | Gait ataxia, sensorimotor neuropathy, oculomotor apraxia, elevated AFP | SETX | Senataxin |
SCAN3 | Ataxia, axonal neuropathy, progressive distal muscle weakness, distal sensory impairment | COA7 | Cytochrome c oxidase assembly factor 7 (putative) |
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