Ataxias with oculomotor apraxia (AOAs)

Disorder	Distinguishing features	Gene or locus	Protein
AOA1/EAOH*	Ataxia, oculomotor apraxia, hypoalbuminemia	APTX	Aprataxin
AOA2/SCAN2	Gait ataxia, sensorimotor neuropathy, oculomotor apraxia, elevated AFP	SETX	Senataxin
AOA3	Ataxia, oculomotor apraxia, dysmetria, dysarthria	PIK3R5	Phosphoinositide-3-kinase regulatory subunit 5
AOA4*	Ataxia, oculomotor apraxia, dystonia	PNKP	Polynucleotide kinase 3'-phosphatase

EAOH: early-onset ataxia with oculomotor apraxia and hypoalbuminemia; SCAN: spinocerebellar ataxia with neuropathy; AFP: alpha-fetoprotein.
* Also categorized as an ataxia syndrome caused by impaired DNA repair mechanisms.

Data from: Online Mendelian Inheritance in Man.

Graphic 133266 Version 1.0

آیا می خواهید مدیلیب را به صفحه اصلی خود اضافه کنید؟