Early-onset ataxia with oculomotor apraxia or oculomotor apraxia/ataxia type 1 (AOA-1) is a
recessive progressive neurodegenerative disease that is clinically characterized by …

Ataxia with oculomotor apraxia type 1 (AOA1) is characterized by childhood onset of slowly
progressive cerebellar ataxia, followed by oculomotor apraxia and a severe primary motor …

This 24-year-old man with a family history of multiple consanguinities (Fig. 1) displayed
psychomotor delay and demonstrated staggering gait at age 26 months. He became unable …

Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disease due to
mutations in the senataxin gene SETX (OMIM# 606002), causing progressive cerebellar …

Ataxia with oculomotor apraxia type 2 (AOA2) is characterized by onset of ataxia between
age three and 30 years after initial normal development, axonal sensorimotor 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 …

PURPOSE: To document congenital ocular motor apraxia in five first-degree relatives.
METHODS: Case series. Five family members with a history of horizontal head thrusting had …

Dear Editor, Ataxia with oculomotor apraxia type I (AOA1) is a recessively inherited ataxic
disorder that is characterized clinically by the childhood onset of progressive cerebellar …

A subgroup of autosomal recessive cerebellar ataxias (ARCAs) associated with oculomotor
apraxia (OMA) and other variable features has been reported. Ataxia–oculomotor apraxia …

The occurrence of congenital oculomotor apraxia in two children of the same family is
described. The improvement of the ocular dysfunction in the older sister gave some hints to …