Joubert syndrome (JS) is an autosomal recessive condition characterized by hypotonia, ataxia, psychomotor delay, and variable occurrence of oculomotor apraxia and neonatal breathing abnormalities. The 11 cases were searched according to their clinic, radiologic, and mutation analysis findings, according to which they were diagnosed as JS. Physical, neurological and fundus examinations were perf...

Balint's syndrome is well described in adults, but not in children. It is caused by bilateral posterior parietal lobe damage and comprises a triad of simultanagnosia (inability to simultaneously see more than a small number of items), optic ataxia (impaired visual guidance of movement of the limbs and body), and apraxia of gaze (inability to volitionally direct gaze despite the requisite motor ...

Apraxia is a disorder of learned skilled movements, in the absence of elementary motor or sensory deficits and general cognitive impairment such as inattention to commands, object-recognition deficits or poor oral comprehension. The first studies on apraxia were performed between the late 19th and early 20th centuries, however controversy remains in praxis literature concerning apraxia types, n...

Ataxia telangiectasia (A-T) is a progressive neurodegenerative disease with onset in early childhood, caused by mutations in the ATM (ataxia-telangiectasia mutated) gene. Diagnosis relies on laboratory tests showing high levels of serum alphafetoprotein, cell sensitivity to ionizing radiation (IR) and absence or reduced levels of ATM protein. Many tests, however, are not sufficiently sensitive ...

Affordances are meaningful relations between the features of observed objects and the observer’s action systems with its proper abilities. The notion of affordance integrates perceptual, cognitive and motor functions, so that perceiving an object, conducting cognitive operations on it, and executing motor actions with it cannot be considered as independent functions. Limb apraxia is a higher-or...

AOA1 (ataxia oculomotor apraxia-1) results from mutations in aprataxin, a component of DNA strand break repair that removes AMP from 5'-termini. In the present article, we provide an overview of this disease and review recent experiments demonstrating that short-patch repair of oxidative single-strand breaks in AOA1 cell extracts bypasses the point of aprataxin action and stalls at the final st...

OBJECTIVES The study aimed at addressing the issue of the precise nature of gait apraxia and the cerebral dysfunction responsible for it. METHODS The case of a patient, affected by a bilateral infarction limited to a portion of the anterior cerebral artery territory is reported. The patient's ability to walk was formally assessed by means of a new standardised test. RESULTS Due to an anomal...