Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease.

Manganese is essential for several metabolic pathways but becomes toxic in excessive amounts. Manganese levels in the body are therefore tightly regulated, but the responsible protein(s) remain incompletely known. We studied two consanguineous families with neurologic disorders including juvenile-onset dystonia, adult-onset parkinsonism, severe hypermanganesemia, polycythemia, and chronic hepatic disease, including steatosis and cirrhosis.

Analysis of the anti-Parkinson drug pramipexole in human urine by capillary electrophoresis with laser-induced fluorescence detection.

A sensitive method based on capillary electrophoresis with laser-induced fluorescence detection has been developed for the analysis of the non-ergoline dopamine agonist pramipexole in human urine. Separation was carried out in uncoated fused silica capillaries (75microm internal diameter, 75.0 and 60.

Visual search improvement in hemianopic patients after audio-visual stimulation.

One of the most effective techniques in the rehabilitation of visual field defects is based on implementation of oculomotor strategies to compensate for visual field loss. In the present study we develop a new rehabilitation approach based on the audio-visual stimulation of the visual field. Since it has been demonstrated that audio-visual interaction in multisensory neurons can improve temporally visual perception in patients with hemianopia, the aim of the present study was to verify whether a systematic audio-visual stimulation might induce a long-lasting amelioration of visual field disorders.

Visual localization of sounds.

Circumscribed hemispheric lesions in the right hemisphere have been shown to impair auditory spatial functions. Due to a strong crossmodal links that exist between vision and audition, in the present study, we have hypothesized that multisensory integration can play a specific role in recovery from spatial representational deficits. To this aim, a patient with severe auditory localization defect was asked to indicate verbally the spatial position where the sound was presented.