Ataxia-oculomotor apraxia syndrome 1 is an early onset cerebellar ataxia that results from loss of function mutations in the APTX gene, encoding Aprataxin, which contains three conserved domains. The forkhead-associated domain of Aprataxin mediates protein-protein interactions with molecules that respond to DNA damage, but the cellular phenotype of the disease does not appear to be consistent w...

BACKGROUND The onset of progressive cerebellar ataxia in early childhood is considered a key feature of ataxia-telangiectasia (A-T), accompanied by ocular apraxia, telangiectasias, immunodeficiency, cancer susceptibility and hypersensitivity to ionizing radiation. METHODS We describe the clinical features and course of three Mennonite children who were diagnosed with A-T following the complet...

The definition of apraxia specifies that the disturbance of performed skilled movements cannot be explained by the more elemental motor disorders typical of patients with movement disorders. Generally this does not present a significant diagnostic problem when dealing with 'higher-level' praxic disturbances (e.g. ideational apraxia), but it can be a major confound in establishing the presence o...

Burkitt lymphoma is a type of B-cell lymphoma that occurs mostly in children, and rarely in adults. The sporadic type is known to occur mostly at the ileum and cecum. Cytarabine, which is used for central nervous system prophylaxis during chemotherapy for Burkitt lymphoma, has known neurotoxicity, and its side effects include motor ataxia due to cerebellar injury, ataxic dysarthria, dysfunction...

BACKGROUND Treatment of Chiari malformation can include suboccipital decompression with resection of one cerebellar tonsil. Its effects on ocular motor and cerebellar function have not yet been systematically examined. OBJECTIVE To investigate whether decompression, including resection of one cerebellar tonsil, leads to ocular motor, vestibular, or cerebellar deficits. PATIENTS AND METHODS ...

OBJECTIVE To determine whether specifically designed activities of daily living (ADL) observations can measure disability due to apraxia with more sensitivity than the Barthel ADL Index, a conventional functional scale. DESIGN Cross-sectional study. SETTING Rehabilitation centres and nursing homes. SUBJECTS One hundred and six left hemisphere stroke patients with apraxia, hospitalized in ...

Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both central and peripheral nervous system, and in some case other systems and organs, and characterized by degeneration or abnormal development of cerebellum and spinal cord, autosomal recessive inheritance and, in most cases, early onset occurring before the age of 20 years. This g...