Benign tremulous parkinsonism of the young-consider Parkin

Benign tremulous parkinsonism is generally considered a disease of the elderly, characterised by dominance of tremor over other motor manifestations, and by slower disease progression. Herein, we draw attention to a different clinical syndrome, benign tremulous parkinsonism of the young, which we have observed in Parkin disease

Huntington disease-like phenotype in a patient with ANO3 mutation

A 71-year-old previously well white British female developed progressive involuntary tongue movements over one year, resulting in eating difficulty and 10 kg weight loss. She had also noted involuntary perioral, facial and distal limb movements beginning 18 months earlier. These had progressively worsened. In the 3 years prior to presentation, she reported subjective memory decline, word finding difficulty and depressed mood, which improved with mirtazapine 30 mg once daily. She had no history of neuroleptic exposure. Her brother had died aged 40 years, following years of mental illness and substance abuse. She was estranged from her father, who was said to have had ‘behavioural problems’. Her paternal grandmother and maternal aunt had Parkinson's disease

A practical guide to troubleshooting pallidal deep brain stimulation issues in patients with dystonia

High frequency deep brain stimulation (DBS) of the internal portion of the globus pallidus has, in the last two decades, become a mainstream therapy for the management of medically-refractory dystonia syndromes. Such increasing uptake places an onus on movement disorder physicians to become familiar with this treatment modality, in particular optimal patient selection for the procedure and how to troubleshoot problems relating to sub-optimal efficacy and therapy-related side effects. Deep brain stimulation for dystonic conditions presents some unique challenges. For example, the frequent lack of immediate change in clinical status following stimulation alterations means that programming often relies on personal experience and local practice rather than real-time indicators of efficacy. Further, dystonia is a highly heterogeneous disorder, making the development of unifying guidelines and programming algorithms for DBS in this population difficult. Consequently, physicians may feel less confident in managing DBS for dystonia as compared to other indications e.g. Parkinson's disease. In this review, we integrate our years of personal experience of the programming of DBS systems for dystonia with a critical appraisal of the literature to produce a practical guide for troubleshooting common issues encountered in patients with dystonia treated with DBS, in the hope of improving the care for these patients

Development of parkinsonism after long-standing cervical dystonia – A cohort

INTRODUCTION: Dystonia occurring in the context of parkinsonism is well-known, e.g. as foot dystonia in young-onset Parkinson's disease (PD), anterocollis in multisystem atrophy (MSA) or blepharospasm (levator inhibition) in progressive supranuclear palsy. We have, however, encountered a series of patients whose phenotype differed from the above described entities. METHODS: We describe a cohort of patients in whom typical idiopathic isolated (primary) late-onset focal or segmental (predominantly cervical) dystonia preceded the development of parkinsonism by several years, sometimes decades. RESULTS: In a cohort of 450 patients followed in our botulinum toxin injections clinic, we identified 11 (2.4%; 7 women) who developed parkinsonism at a median of 14 years after the onset of dystonia. Median age at onset of parkinsonism was 70 years (range 59-87), usually manifesting with a new tremor or a change of tremor pattern, complaints of 'slowing down' or new walking difficulties. Parkinsonism resembled PD in 5 (one pathologically confirmed); the remainder had atypical parkinsonism of MSA (n = 3) or indeterminate phenotype (n = 3). CONCLUSION: The relatively frequent occurrence of parkinsonism after long-standing dystonia would suggest a link between the two, in line with evidence from other clinical reports, imaging studies, animal models and genetics. It appears that in some cases of dystonia this could be an antecedent manifestation of a syndrome with parkinsonism developing later, or be a risk factor for parkinsonism. In practice, it is important for clinicians to be alert to new symptoms/signs in patients with long-standing dystonia. From a research point of view, longitudinal case-control studies would be required to further investigate the link between long-standing dystonia and subsequent parkinsonism

Concurrent panel session 1: Environmental sustainability and Las Vegas

Moderator: Dr. Stan Smith, UNLV School of Life Sciences Scribe: Crystal Jackson, UNLV Department of Sociology Conference white paper & Full summary of panel session, 6 page

A long-term follow-up of safety and clinical efficacy of NTCELL® [Immunoprotected (Alginate-encapsulated) porcine choroid plexus cells for xenotransplantation] in patients with Parkinson's disease.

INTRODUCTION: In 2019, we published the results of a Phase IIb randomized controlled trial of putaminal encapsulated porcine choroid plexus cell (termed NTCELL®) administration in patients with Parkinson's disease. This study failed to meet its primary efficacy end-point of a change in UPDRS part III score in the 'off' state at 26-weeks post-implant. However, a number of secondary end-points reached statistical significance. We questioned whether with longer follow-up, clinically significant improvements would be observed. For this reason, we decided to follow-up all patients periodically to week 104. Herein, we report the results of this long-term follow-up. METHODS: All 18 patients included in the original study were periodically re-assessed at weeks 52, 78 and 104 post-implant. At each time-point, motor and non-motor function, quality of life and levodopa equivalent daily dose was assessed using a standardized testing battery. RESULTS: At week 104, no significant differences in UPDRS part III scores in the 'off' state were observed in any of the treatment groups compared to baseline. Only a single serious adverse event - hospitalisation due to Parkinson's disease rigidity not responding to changes in medications - was considered potentially related to the implant procedure. There was no evidence of xenogeneic viral transmission. CONCLUSION: Un-blinded, long-duration follow-up to week 104 post-implantation showed no evidence that putaminal NTCELL® administration produces significant clinical benefit in patients with moderately advanced Parkinson's disease