Four patients aged between 9 months and 17 years were detected to have congenital ocular motor apraxia (COMA) over a 10-month period. Three of them were siblings. All exhibited the classical signs of a horizontal saccadic palsy. However, the signs were less pronounced with increasing age of the patient. This supports the observations of other authors who have noted an age-related resolution. Th...

A defective response to DNA damage is observed in several human autosomal recessive ataxias with oculomotor apraxia, including ataxia-telangiectasia. We report that senataxin, defective in ataxia oculomotor apraxia (AOA) type 2, is a nuclear protein involved in the DNA damage response. AOA2 cells are sensitive to H2O2, camptothecin, and mitomycin C, but not to ionizing radiation, and sensitivit...

Apraxia caused by left hemispheric stroke typically impairs skilled sequential movements. After stroke, apraxic patients need to reacquire motor skills by motor learning. The current study assessed for the first time incidental motor sequence learning in apraxic patients. Forty-eight human subjects (henceforth called "patients") with left hemispheric stroke affecting the middle cerebral artery ...

Friedreich ataxia (FRDA), the commonest of the inherited ataxias, is a multisystem neurodegenerative condition that affects ocular motor function. We assessed eye movement abnormalities in 20 individuals with genetically confirmed FRDA and compared these results to clinical measures. All subjects were assessed with infrared oculography. Fifteen individuals underwent a full protocol of eye movem...

A 63-year-old patient was admitted with acute ataxia and binocular oblique diplopia. Neuroophthalmologic examination revealed abducting hypertropia on lateral gaze, better seen during upgaze, mimicking bilateral inferior oblique palsy (video, figure). There was no ocular cyclotorsion. Brain MRI revealed focal ischemic lesions in the right cerebellar hemisphere and left superior colliculus (figu...

A dysfunction of the vestibular system is commonly characterized by a combination of phenomena involving perceptual, ocular motor, postural, and autonomic manifestations: vertigo/dizziness, nystagmus, ataxia, and nausea. These 4 manifestations correlate with different aspects of vestibular function and emanate from different sites within the central nervous system. The diagnosis of vestibular s...

The spinocerebellar ataxia recessive type 10 is a genetic form associated with ANO10 gene mutations. Affected individuals present ataxia, hyperreflexia, ocular movement disorders and cerebellar atrophy. homozygous variant in the NP_060545.3:p.Asn114* 2-nucleotide deletion that would cause introduction of premature stop codon at same position, has not been previously described scientific literat...

Response to Letter Regarding Article, “Damage to the Left Precentral Gyrus Is Associated With Apraxia of Speech in Acute Stroke” We appreciate the letter by Terao et al on our recent publication. The posterior wall of the precentral gyrus corresponds to the primary motor cortex or Brodmann’s area 4 at its mid to dorsal parts and to the premotor cortex or Brodmann’s area 6 at its ventral part. T...

Although AOA1 (ataxia oculomotor apraxia1) is one of the most common causes of autosomal recessive cerebellar ataxias in Japanese population, it is reported from all over the world. The clinical manifestations are similar to ataxia telangiectasia in which non-neurological manifestations are absent and include almost 10% of autosomal recessive cerebellar ataxias. Dysarthria and gait disorder are...