Disorder | Distinguishing features | Gene or locus | Protein |
FXTAS | Fragile X tremor/ataxia syndrome with intention tremor, parkinsonism, cognitive decline, and atrophy | FMR1 | Fragile X mental retardation protein (FMRP) 1 |
SCAX1 | Ataxia (olivopontocerebellar atrophy), hypotonia at birth, motor delay, difficulty standing | ATP2B3 | ATPase plasma membrane Ca2+ transporting 3 |
SCAX2 | Ataxia, head tremor, spasticity, cerebellar atrophy | Not yet identified | |
SCAX3 | Ataxia, hypotonia, sensorineural deafness, optic atrophy | Not yet identified | |
SCAX4 | Ataxia, pyramidal tract signs, adult-onset dementia | Not yet identified | |
SCAX5 | Ataxia, neonatal hypotonia, motor delay, dysarthria | Not yet identified |
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