BACKGROUND Posterior cortical atrophy is a clinical syndrome that is characterized by the progressive loss of visuospatial integration and is associated with neurodegenerative conditions. CASE REPORT We describe a 60-year-old female with simultanagnosia, oculomotor apraxia, and optic ataxia for which she received an initial clinical diagnosis of posterior cortical atrophy. Three years later, ...

Posterior fossa syndrome, characterized by oromotor or oculomotor apraxia, emotional lability, and mutism, occurs in some children after infratentorial tumor resection, and is thought to involve injury to the dentatothalamocortical tract. Previous cases of posterior fossa syndrome involved pediatric patients with cerebellar and other posterior fossa tumors. To heighten awareness that posterior ...

We describe two sisters who presented in early childhood with motor delay and unusual eye movements. Both demonstrated hypotonia and poor visual attention. The older girl at 14 weeks of age showed fine pendular horizontal nystagmus more pronounced on lateral gaze, but despite investigation with cranial MRI no diagnosis was reached. The birth of her younger sister four years later with a similar...

A 59 year old woman presented with an atypical parkinsonian syndrome with clinical and neuroimaging features of corticobasal syndrome (CBS) and progressive supranuclear palsy (PSP). CBS manifestations were slurred/scanning speech and asymmetrical right signs: levitation phenomena, pseudo-hemiparetic gait and hypertonia/hyperreflexia. PSP signs were staring face and oculomotor apraxia. Neuroimag...

Defects in cellular DNA repair processes have been linked to genome instability, heritable cancers, and premature aging syndromes. Yet defects in some repair processes manifest themselves primarily in neuronal tissues. This review focuses on studies defining the molecular defects associated with several human neurological disorders, particularly ataxia with oculomotor apraxia 1 (AOA1) and spino...

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...

background: as both oral and verbal apraxia are related  to vocal orofacial musculature, this study aimed at identifying brain regions impaired in cases with oral and verbal apraxia. methods:   in  this non-experimental  study,  46  left  brain damaged subjects (17 females)  aged  23–84  years,  were examined  by oral and  verbal apraxia tasks.  impaired  and spared broca’s area, insula, and mi...