Background Ataxia with oculomotor apraxia type 1 is an autosomal-recessive
neurodegenerative disorder characterized by a childhood onset of slowly progressive …

Cerebellar ataxia is a disorder characterized by a broad spectrum of phenotypes. Ataxia with
oculomotor apraxia type 1 (AOA1) is an autosomal recessive disease presenting with early …

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

Background Ataxia with oculomotor apraxia type 1 (AOA1) is a rare autosomal recessive
cerebellar ataxia, caused by mutations in the APTX gene. The disease is characterized by …

Ataxia with oculomotor apraxia type 1 (AOA1) is a rare genetic disorder and is inherited in
an autosomal recessive manner. It is mainly characterized by childhood-onset progressive …

Ataxia with oculomotor apraxia type1 (AOA1, MIM 208920) is a rare autosomal recessive
disease caused by mutations in the APTX gene. We screened a cohort of 204 patients with …

Hereditary ataxias are a clinically and genetically heterogeneous family of disorders defined
by the inability to control gait and muscle coordination. Given the nonspecific symptoms of …

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 …

We describe here a 73-year-old patient presenting with atypical MSA-P-like phenotype
carrying a monoallelic p. W279X mutation in the APTX gene, which causes ataxia with …

Background: Ataxia with oculomotor apraxia (AOA1) is characterized by early-onset
progressive cerebellar ataxia with peripheral neuropathy, oculomotor apraxia and …