Gait festination is one of the most characteristic gait disturbances in patients with Parkinson’s disease or atypical parkinsonism. Although festination is common and disabling, it has received little attention in the literature, and different definitions exist. Here, we argue that there are actually two phenotypes of festination. The first phenotype entails a primary locomotion disturbance, due to the so-called sequence effect: a progressive shortening of step length, accompanied by a compensatory increase in cadence. This phenotype strongly relates to freezing of gait with alternating trembling of the leg. The second phenotype results from a postural control problem (forward leaning of the trunk) combined with a balance control deficit (inappropriately small balance-correcting steps). In this viewpoint, we elaborate on the possible pathophysiological substrate of these two phenotypes of festination and discuss their management in daily clinical practice.

A systematic review on the genetic analysis of paragangliomas: primarily focused on head and neck paragangliomas

Osteoarthrosis (OA) of temporomandibular joint (TMJ) is a progressive degenerative disease, gradually affecting cartilage, synovial membrane and bone structures. OA of TMJ clinically manifests with joint noises, pain and restricted mouth opening. In late stages, it results in severe damage of TMJ structures and development of ankylosis. Osteoarthrosis is a multifactorial disease; the occurrence is associated with TMJ overloading. The cohort included 619 patients [538 women (87%) and 81 men (13%), with average age 40.6 years (age range 8–89 years)] with TMJ disorder, who were examined in the year 2014 in Department of Dental Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic. The aim of this retrospective study was to analyse, if the lack of posterior teeth (supporting teeth zones) is the main etiologic factor of osteoarthrosis of TMJ. Diagnosis of OA was established on the clinical signs and the panoramic X-ray signs. Simultaneously other etiologic factors of OA were assessed. The presence of OA changes on X-ray had 171 patients (i.e. 27.6% of the total number of 619). 17.5% from these patients with OA had defect in posterior dentition. Other aetiological factors (stress, skeletal or vertebrogenous disorders) showed higher incidence of OA changes on X-ray. Defect of posterior dentition is not negligible, but it is not the main aetiological factor for osteoarthrosis of TMJ.

Multiple head and neck paragangliomas (HNPGLs) are neuroendocrine tumors of a mostly benign nature that can be associated with a syndrome, precipitated by the presence of a germline mutation. Familial forms of the disease are usually seen with mutations of SDHx genes, especially the SDHD gene. SDHB mutations are predisposed to malignant tumors. We found 6 patients with multiple tumors amongst 30 patients with HNPGLs during the period of 2016 to 2021. We discuss the phenotypic and genetic patterns in our patients with multiple HNPGLs and explore the management possibilities related to the disease. Fifty percent of our patients had incidental findings of HNPGLs. Twenty-one biochemically silent tumors were found. Four patients had germline mutations, and only one had a positive family history. Three out of five underwent surgery without permanent complications. Preventative measures (genetic counselling and tumor surveillance) represent the gold standard in effectively controlling the disease in index patients and their relatives. In terms of treatment, apart from surgical and radiotherapeutic interventions, new therapeutic measures such as gene targeted therapy have contributed very sparsely. With the lack of standardized protocols, management of patients with multiple HNPGLs still remains very challenging, especially in those with sporadic or malignant forms of the disease.