Autosomal recessive spinocerebellar ataxias with neuropathy (SCANs)

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)

AOA: ataxia with oculomotor apraxia; AFP: alpha-fetoprotein.
* Also categorized as an ataxia syndrome caused by impaired DNA repair mechanisms.

Graphic 133270 Version 1.0

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