The postnatal neurodevelopmental disorder Rett syndrome, caused by mutations in MECP2, produces a diverse array of symptoms, including loss of language, motor, and social skills and the development of hand stereotypies, anxiety, tremor, ataxia, respiratory dysrhythmias, and seizures. Surprisingly, despite the diversity of these features, we have found that deleting Mecp2 only from GABAergic inh...

UNLABELLED Spinocerebellar ataxia type 3 (SCA3) involves cerebellar, pyramidal, extrapyramidal, motor neuron and oculomotor systems with strong phenotypic heterogeneity, that lead us to classify the disorder into different clinical subtypes according to the predominantly affected motor systems. METHOD The series comprises 167 SCA3 patients belonging to 68 pedigrees, studied from 1989-2013. Th...

Bálint’s syndrome is a clinical entity that combines variously a set of complex spatial behavior disorders following bilateral damage to the occipitoparietal junction. The core syndrome is a triad, composed of “optische Ataxie” – a defect of visually guided hand movements – “Seelenlähmung des Schauens” – often referred to as psychic paralysis of gaze or spasm of fixation – and “räumliche Storun...

Senataxin is encoded by the SETX gene and is mainly involved in two different neurodegenerative diseases, the dominant juvenile form of amyotrophic lateral sclerosis type 4 and a recessive form of ataxia with oculomotor apraxia type 2. Based on protein homology, senataxin is predicted to be a putative DNA/RNA helicase, while senataxin interactors from patients' lymphoblast cell lines suggest a ...

The antisaccade (AS) task, which requires the ability to suppress unwanted reflexive glances, has proven to be a powerful tool for the analysis of executive control. Performing this task activates a large frontoparietal network, but which area is specifically responsible for reflexive saccade (RS) inhibition has not yet been demonstrated. We reversibly inactivated portions of the principal sulc...

Glutamic acid decarboxylase (GAD) catalyzes the conversion of glutamic acid to gamma-aminobutyric acid (GABA). Autoantibodies directed against GAD (antiGAD-Ab) have been described in patients with insulin-dependent diabetes mellitus, stiff-man syndrome, and in a few patients with progressive cerebellar ataxia. The presence of these autoantibodies suggests an autoimmune pathophysiological mechan...