Niemann-Pick type C disease (NP-C) presents with heterogeneous neurological and psychiatric symptoms. Adult onset is rare and possibly underdiagnosed due to frequent lack of specific and obvious key symptoms. For both early and adolescent/adult onset, the available data from studies and case reports describe a positive effect of Miglustat (symptom relief or stabilization). However, due to the l...

BACKGROUND Oculomotor abnormalities have been reported in patients with degenerative ataxic disorders. OBJECTIVE To assess the diagnostic sensitivity and specificity of oculomotor deficits in patients with Friedreich ataxia (FA), cerebellar atrophy (CA), and olivopontocerebellar atrophy (OPCA). SETTING Neurology clinic at a university hospital in Lübeck, Germany. PATIENTS Seven patients w...

Progressive supranuclear palsy (PSP) is a progressive tauopathy characterized by supranuclear ophthalmoplegia, pseudobulbar palsy, dysarthria, axial rigidity, frontal lobe dysfunction, and dementia. The typical pathology includes neuronal loss, gliosis and microtubule-associated protein tau (MAPT)-positive inclusions in neurons and glial cells, primarily in basal ganglia, brainstem and cerebell...

BACKGROUND Niemann-Pick disease type C (NP-C) is a rare autosomal recessive disorder of lysosomal cholesterol transport. The objective of this retrospective cohort study was to critically analyze the onset and time course of symptoms, and the clinical diagnostic work-up in the Swiss NP-C cohort. METHODS Clinical, biochemical and genetic data were assessed for 14 patients derived from 9 famili...

BACKGROUND Niemann-Pick disease type C (NP-C), derived from mutation of the NPC1 or NPC2 gene, is one of the recessive lysosomal lipid storage disorders that are difficult to diagnose and treat. Since NP-C has been rarely reported in China, we reviewed 7 patients with NP-C. METHODS The 7 patients had been diagnosed with NP-C from 2007 to 2010 at our department and their laboratory and clinica...

The current research compared the ability of adults and children to determine where another person is looking in shared visual space (triadic gaze). In Experiment 1, children (6-, 8-, 10-, and 14-year-olds) and adults viewed photographs of a model fixating a series of positions separated by 1.6° along the horizontal plane. The task was to indicate whether the model was looking to the left or ri...

BACKGROUND An adolescent girl had isolated abnormal downward gaze and oculovestibular (cold caloric) testing during propofol administration, prompting concern for brainstem abnormality. PATIENT An otherwise healthy 16-year-old girl presented after an intentional hanging. Brainstem reflexes were normal except that both eyes exhibited tonic downward gaze on initial examination. After propofol w...