Studying archetypes is a fundamental task in nosography. Duchenne de Boulogne practiced it instinctively, and many others have done it before and after him: It is indispensable, and the only way to extract a specific pathological state from the chaos of imprecision. The history of medicine, which is long and grand, shows this truth well. But once the archetype is established, the second nosogra...

PURPOSE OF REVIEW This update discusses novel aspects on genetics, diagnosis, and treatments of atypical parkinsonism published over the past 2 years. RECENT FINDINGS A genome-wide association study identified new genetic risk factors for progressive supranuclear palsy and new genetic conditions presenting with atypical parkinsonism have been described. The clinical criteria for diagnosis of ...

This review is designed to provide practical help for the clinical neurologist to make appropriate use of the possibilities of molecular diagnosis of inherited movement disorders. Huntington's disease, Parkinson's disease and parkinsonian syndromes, ataxias, Wilson disease, essential tremor, dystonias, and other genetic diseases associated with a variety of movement disorders are considered sep...

The diagnosis of Parkinson's disease (PD) is based mainly on clinical criteria. Large clinicopathological studies reveal however a different diagnosis in up to 25% of the cases (Hughes et al., 1992). Recent advances in molecular biology have shown that some proteins, especially tau and alpha-synuclein, play an essential role in the pathogenesis of parkinsonian and dementing disorders. Such dise...

Gait freezing and postural instability are disabling features of Parkinsonian disorders, treatable with pedunculopontine nucleus stimulation. Both features are considered deficits of proximal and axial musculature, innervated predominantly by reticulospinal pathways and tend to manifest when gait and posture require adjustment. Adjustments to gait and posture are amenable to pre-preparation and...

We have studied the effects of stimulating the pedunculopontine nuclei through a fully implanted macroelectrode with a s.c. implantable pulse generator whose parameters can be programmed telemetrically, in a macaque before and after inducing Parkinsonian akinesia with MPTP. Our results show that in the normal monkey high frequency stimulation of the pedunculopontine nuclei reduces motor activit...

Parkinson's disease is a principal underlying disease of neuroleptic malignant syndrome (NMS) occurring in parkinsonian disorders, but NMS may occur in patients with progressive supranuclear palsy and multiple system atrophy. We report first patient with corticobasal degeneration (CBD) who developed NMS after abrupt reduction of antiparkinsonian medication and concurrent infection. It should be...

Mutations in both copies (homozygous or compound heterozygous) of the gene encoding the lysosomal enzyme glucocerebrosidase, which cleaves the glycolipid glucocerebroside into glucose and ceramide cause Gaucher disease. However, multiple independent studies have also reported an association between GBA mutations and Parkinsonism with an increased frequency of heterozygous GBA mutations in vario...

The differential diagnosis of Parkinsonism based on clinical features, sometimes may be difficult. Diagnostic tests in these cases might be useful, especially magnetic resonance imaging, a noninvasive exam, not as expensive as positron emission tomography, and provides a good basis for anatomical analysis. The magnetic resonance spectroscopy analyzes cerebral metabolism, yielding inconsistent r...