The phenotypic and genetic spectrum of ataxia with oculomotor apraxia (AOA) disorders is
rapidly evolving and new technologies such as genetic mapping using whole exome …

Ataxia with oculomotor apraxia type 4 (AOA4) is a rare autosomal recessive, PNKP-related
disorder delineated in 2015 in Portugal. We diagnosed AOA4 by next generation …

Ataxia with oculomotor apraxia type 4 (AOA4) is an autosomal recessive (AR) disorder
recently delineated in a Portuguese cohort and caused by mutations in the PNKP …

Background The autosomal recessively inherited ataxia with oculomotor apraxia 2 (AOA2) is
a neurodegenerative disorder characterized by juvenile or adolescent age of onset, gait …

Hereditary autosomal-recessive cerebellar ataxias are a genetically and clinically
heterogeneous group of disorders. We used homozygosity mapping and exome sequencing …

Ataxia with oculomotor apraxia (AOA) is a clinical syndrome featuring a group of genetic
diseases including at least four separate autosomal-recessive cerebellar ataxias. All these …

Importance Ataxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive
cerebellar ataxia due to mutations in the aprataxin gene (APTX) that is characterized by …

The rare autosomal recessive neurologic disorder ataxia-oculomotor apraxia type 4 (AOA4;
MIM# 616267) is characterized by ataxia, oculomotor apraxia (OMA), peripheral neuropathy …

Missense and truncating mutation in APTX gene are responsible of ataxia with oculomotor
apraxia type 1 (AOA1) an autosomal recessive disorder characterized by early onset …

Ataxia with oculomotor apraxia is an autosomal recessive inherited disease characterized
by childhood onset of progressive cerebellar ataxia, oculomotor apraxia, and progressive …