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This article evaluates the current state of testing and counseling viewpoints for Parkinson’s disease (PD) risk gene carriers and their families. Recent discoveries of mutations in genes associated with increased risk for PD not only portend novel possibilities for targeted clinical research but also present salient challenges for genetic counseling. A patient-centered and transparent approach to counseling that assesses preferences and communication styles is described to aid in facilitating the use of evolving evidence regarding strategies to attenuate PD phenoconversion in non-manifesting carriers.

Recent discoveries support the principle that palliative care may improve the quality of life of patients with Parkinson’s disease and those who care for them. Advance care planning, a component of palliative care, provides a vehicle through which patients, families, and clinicians can collaborate to identify values, goals, and preferences early, as well as throughout the disease trajectory, to facilitate care concordant with patient wishes. While research on this topic is abundant in other life-limiting disorders, particularly in oncology, there is a paucity of data in Parkinson’s disease and related neurological disorders. We review and critically evaluate current practices on advance care planning through the analyses of three bioethical challenges pertinent to Parkinson’s disease and propose recommendations for each.

Most Parkinson's disease (PD) patients present without known family history and without a diagnosed prodromal phase, underscoring the difficulty of employing primary (neuroprevention) and secondary (neuroprotection) preventions. In cases of monogenic forms, however, potential gene-carrying family members of a proband could engage in neuroprevention, such as exercise or diet modifications, to attenuate the risk of, or delay, disease development. However, a historical lack of recognized disease-modifying interventions has limited clinicians' ability to recommend reliable preventive measures in caring for at-risk populations. We briefly analyze the first retrospective study to examine caffeine consumption and PD risk in a LRRK2 R1628P cohort.

Clinical signs are critical in ascertaining the functional nature of a gait disorder. Four signs of gait impairment have been documented in the course of examining patients with clinically definite functional (psychogenic) movement disorders: “huffing and puffing” during standing and walking, manipulation-resistance dorsiflexion of the first toe, fixed plantar flexion and inversion, and marked discrepancy between ambulation with and without swivel chair assistance. While large studies are needed to ascertain their prevalence, sensitivity, and specificity, the identification of these signs may help elevate the diagnostic certainty of functional gait disorders. Electronic supplementary material The online version of this article (doi:10.1186/s40734-016-0031-1) contains supplementary material, which is available to authorized users.