Parkinson’s Disease: Contemporary 17 Concepts and Clinical Management

Abstract

Parkinson’s disease (PD) is a common neurodegenerative disorder causing a remarkable burden at the individual, family, social, and economic levels. Several risk and protective factors have been recently identified, providing potential for the research and implementation of preventive strategies. Although most cases remain sporadic, various monogenic forms of PD have been described, including autosomal dominant (e.g., LRRK2, SNCA, VPS35, EIF4G1, CHCHD2), autosomal recessive (e.g., parkin, PINK1, DJ-1, DNAJC6), and X-linked (e.g., RAB39B). The pathophysiology of PD is still intriguing, with several recent concepts and theories, including evidence that disease pathology might spread along the various neural systems and regions as a prion protein. Thorough scientific knowledge and clinical experience are required to establish the diagnosis correctly, and novel criteria have been freshly proposed to aid clinicians in this task. This process implies also effectively distinguishing PD from less common parkinsonian disorders including Kufor-Rakeb syndrome, Perry syndrome, a few degenerative ataxias and spastic paraplegias, and several forms of neurodegeneration with brain iron accumulation (NBIA), among others. Treating PD is a challenging enterprise, as the various options should be considered, and often rerouted, taking into account disease stage, motor and non-motor symptoms, and non-PD concomitant patient features. Although general guidelines and strategies are available, it is essential to tailor therapy to each patient, so that quality of life is maximized for many years, while minimizing risks and adverse effects. In carefully selected patients, deep brain stimulation, subcutaneous apomorphine, and levodopa/carbidopa intestinal gel should be considered whenever optimized noninvasive strategies are insufficient to guarantee these goals.