Treatment of Dystonic Tremor of the Upper Limbs: A Single-Center Retrospective Study.

Tremor is part of the phenomenological spectrum of dystonia. Treatments available for tremor in dystonia are oral medications (OM), botulinum neurotoxin (BoNT), and brain surgery (deep brain stimulation or thalamotomy). There is limited knowledge regarding the outcome of different treatment options, and evidence is especially scarce for the tremor of the upper limbs occurring in people with dystonia. In this single-center retrospective study, we evaluated the outcome of different treatments in a cohort of people with upper limb dystonic tremors. Demographic, clinical, and treatment data were analyzed. Dropout rates and side effects were specifically assessed, as well as the 7-point patient-completed clinical global impression scale (p-CGI-S, 1: very much improved; 7: very much worse) as outcome measures. A total of 47 subjects (46.8% female) with dystonic tremor, tremor associated with dystonia, or task-specific tremor were included, with a median age at onset of 58 years (7-86). A total of 31 subjects were treated with OM, 31 with BoNT, and 7 with surgery. Dropout rates with OM were 74.2% due to either lack of efficacy (n = 10) or side effects (n = 13). A total of 7 patients treated with BoNT (22.6%) had mild weakness, causing dropout in 2. P-CGI-S was ≤3 (improvement) in 39% with OM, compared to 92% with BoNT and 100% with surgery. These findings suggest good symptom control of the tremor of the upper limb in dystonia with BoNT and surgery, with higher rates of dropout and side effects with OM. Randomized controlled studies are needed to confirm our findings and provide further insight into better selecting suitable patients for BoNT or brain surgery.

Autism Spectrum Disorder May Be Highly Prevalent in People with Functional Neurological Disorders.

Recent observations suggest that autism spectrum disorder (ASD) co-occurs in people with a functional neurological disorder (FND), but little systematic data are available on the relationship between FND and autism. The study aimed to assess the self-reported autistic traits via a standardized questionnaire and the prevalence of previously diagnosed ASD among people with FND and their 1st-degree relatives. We performed a survey of members of the patient organization FNDHope, using a self-completed questionnaire for screening for autistic traits and ASD: the adult autism subthreshold spectrum (AdAS spectrum). There were 344 respondents diagnosed with FND with a mean age of 39.8 ± 11.6 years (female sex 90%). Eight per cent of respondents volunteered a previous diagnosis of ASD, and 24% reported a 1st-degree relative with a formal diagnosis of ASD, mostly their children. We found that 69% of respondents had scores in the AdAS spectrum indicating a clinically significant ASD and 21% indicating autistic traits. Further studies are needed to provide more evidence regarding the prevalence of ASD in people with FND and how this may influence the aetiology, treatment selection and prognosis.

A Clinicopathologic Study of Movement Disorders in Frontotemporal Lobar Degeneration.

BACKGROUND: Despite the considerable overlap with atypical parkinsonism, a systematic characterization of the movement disorders associated with frontotemporal lobar degeneration (FTLD) is lacking. OBJECTIVE: The aim of this study is to provide a detailed description of the phenomenology and neuropathologic correlations of movement disorders in FTLD. METHODS: In this cohort study, movement disorder clinical data were retrospectively collected from medical records of consecutive patients with a postmortem diagnosis of FTLD from the Queen Square Brain Bank between January 2010 and December 2018. At postmortem, neurodegenerative pathologies were systematically evaluated following consensus criteria. Degeneration of the substantia nigra was assessed as a marker of presynaptic dopaminergic parkinsonism using semiquantitative methods. RESULTS: A total of 55 patients (35 men [64%]) were included with median (interquartile range) age at diagnosis of 58.8 (52.6-63.9) years and a disease duration of 9.6 (6.2-12.9) years. Movement disorders were present in 19 (35%) patients without differences among disease subtypes. The most common syndromes were parkinsonism (9 patients [16%]), usually as an additional late feature, and corticobasal syndrome (CBS, 7 patients [13%]), commonly as a presenting feature. Substantia nigra degeneration was present in 37 (67%) patients although it did not show a good clinical correlation with movement disorders. Those with Pick's disease showed milder substantia nigra degeneration and better response to levodopa. CONCLUSIONS: Movement disorders can present in all FTLD subtypes, more commonly as a late additional feature (parkinsonism) or as a presenting symptom (CBS). The underlying pathophysiology is complex and likely to involve structures outside the presynaptic striatonigral system. © 2020 International Parkinson and Movement Disorder Society.

Intestinal Levodopa/Carbidopa Infusion as a Therapeutic Option for Unresponsive Freezing of Gait after Deep Brain Stimulation in Parkinson's Disease.

BACKGROUND: Treatment of freezing of gait (FOG) is always challenging because of its unpredictable nature and multifactorial physiopathology. Intestinal levodopa infusion has been proposed in recent years as a valuable option for its improvement. FOG in Parkinson's disease (PD) can appear after deep brain stimulation in patients who never had gait symptoms. OBJECTIVE: To study the effects of intestinal levodopa/carbidopa infusion in unresponsive-FOG that appears in PD patients treated with subthalamic nucleus deep brain stimulation. METHODS: We retrospectively collected and analyzed demographic, clinical, and therapeutic data from five PD patients treated with subthalamic nucleus stimulation who developed unresponsive-FOG and received intestinal levodopa/carbidopa infusion as an alternative therapy. FOG was measured based on scores in item 14 of the Unified Parkinson's Disease Rating Scale before and after intestinal levodopa infusion. RESULTS: Administration of intestinal levodopa caused improvement of FOG in the "ON" state in four patients (80%) by 2 or more points in item 14 of the Unified Parkinson's Disease Rating Scale. The improvement was maintained for at least 12 months. CONCLUSIONS: Intestinal levodopa infusion may be a valuable therapeutic option for unresponsive-FOG developed after subthalamic nucleus deep brain stimulation.