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Introduction: Chorea is primarily due to an imbalance of basal ganglia output pathways, often due to dysfunction or degeneration of the caudate nucleus and putamen, and can be due to many causes., Methods: We reviewed the recent literature to identify newly-recognized causes of chorea, including auto-immune, metabolic, and genetic. We also focused upon developments in mechanisms relating to underlying pathophysiology of certain genetic choreas and advances in therapeutics., Results: Novel autoantibodies continue to be identified as causes of chorea. Both COVID-19 infection and vaccination are reported to result rarely in chorea, although in some cases causality is not clearly established. Advances in genetic testing continue to find more causes of chorea, and to expand the phenotype of known genetic disorders. Deep brain stimulation can be successful in certain circumstances., Conclusion: Our understanding of mechanisms underlying this movement disorder continues to advance, however much remains to be elucidated., Competing Interests: Declaration of competing interest There are no competing interests., (Published by Elsevier Ltd.)

Background: Although NKX 2.1 related chorea has been considered benign due to the favourable course of motor phenotype during life, the neurological condition is not limited to chorea, including non-motor symptoms in the developmental, cognitive and psychiatric domain. Aim of our study was to test working memory, attention and planning abilities of a cohort of NKX2.1 choreic patients compared to healthy controls., Methods: patients and healthy controls were assessed for working memory (Visual Digit Span test), response inhibition and sustained attention (Cued Go/No-Go test), and spatial problem-solving and planning task (Tower of London test). For experimental protocol, we used a computer based tool for neuropsychological experiments, Inquisit 5.0 software (Millisecond Software®). Non-parametric tests were performed for statistical analysis., Results: six patients and fifteen healthy paediatric controls were recruited. In the Digit Span test, both in forward and backward recall, patients showed statistically significant lower scores than controls. In the Cued Go/No-Go test as well as in the Tower of London, NKX 2.1 patients showed similar scores in the error rate and total score respectively, whereas in both tests they appeared to be slower than controls suggesting a poor performance in the execution of the tests., Conclusions: our findings demonstrate that patients with NKX2.1-related chorea show a selective impairment in working memory with increased latencies in both planning and attention. A developmental alteration of the cholinergic neurotransmission in the basal forebrain and the disruption of striatal networks could explain, at least in part, this neuropsychological profile., (Copyright © 2021 Elsevier Ltd. All rights reserved.)

Introduction: Although focal motor seizures may resemble one or more movement disorders their phenomenology and prevalence remain uncertain., Methods: To examine the extent to which focal motor seizures can present with a phenomenology fulfilling diagnostic criteria for movement disorders, 100 consecutive patients with focal motor seizures were rated by movement disorders experts, epileptologists, and general neurologists., Results: A focal motor seizure phenomenologically manifested as a defined movement disorder in 29% of the patients from a consecutive video-EEG documented cohort as per consensus among experts: myoclonus and dystonia (10 and 9 cases, respectively) were the most common movement disorders, followed by chorea (4), stereotypies (3) myoclonus-dystonia (2), and tremor (1)., Conclusions: Movement disorders and focal motor epilepsy share overlapping movement phenomenology., (Copyright © 2018 Elsevier Ltd. All rights reserved.)

GNAO1 variants were recently discovered as causes of epileptic encephalopathies and heterogeneous syndromes presenting with movement disorders (MDs), whose phenomenology and clinical course are yet undefined. We herein focused on GNAO1-related MD, providing an analytical review of existing data to outline the main MD phenomenology and management, clinical evolution and genotype-phenotype correlations. Reviewing 41 previously published patients and assessing 5 novel cases, a comprehensive cohort of 46 patients was analyzed, reassuming knowledge about genotypes, phenotypes, disease course and treatment of this condition. GNAO1-related MD consisted of a severe early-onset hyperkinetic syndrome, with prominent chorea, dystonia and orofacial dyskinesia. Symptoms are poorly responsive to medical therapy and fluctuate, with critical and life-threatening exacerbations, such as status dystonicus. The presence of a choreiform MD appears to be predictive of a higher risk of movement disorder emergency. Surgical treatments are sometimes effective, although severe disabilities persist. Differently from the early infantile epileptic encephalopathy phenotype (associated with loss of function variants), no clear correlation between genotype and MD phenotype emerged, although some variants recurred more frequently, mainly affecting exons 6 and 7., (Copyright © 2018 Elsevier Ltd. All rights reserved.)

Background: The frequency of late-onset Huntington's disease (>59 years) is assumed to be low and the clinical course milder. However, previous literature on late-onset disease is scarce and inconclusive., Objective: Our aim is to study clinical characteristics of late-onset compared to common-onset HD patients in a large cohort of HD patients from the Registry database., Methods: Participants with late- and common-onset (30-50 years)were compared for first clinical symptoms, disease progression, CAG repeat size and family history. Participants with a missing CAG repeat size, a repeat size of ≤35 or a UHDRS motor score of ≤5 were excluded., Results: Of 6007 eligible participants, 687 had late-onset (11.4%) and 3216 (53.5%) common-onset HD. Late-onset (n = 577) had significantly more gait and balance problems as first symptom compared to common-onset (n = 2408) (P < .001). Overall motor and cognitive performance (P < .001) were worse, however only disease motor progression was slower (coefficient, -0.58; SE 0.16; P < .001) compared to the common-onset group. Repeat size was significantly lower in the late-onset (n = 40.8; SD 1.6) compared to common-onset (n = 44.4; SD 2.8) (P < .001). Fewer late-onset patients (n = 451) had a positive family history compared to common-onset (n = 2940) (P < .001)., Conclusions: Late-onset patients present more frequently with gait and balance problems as first symptom, and disease progression is not milder compared to common-onset HD patients apart from motor progression. The family history is likely to be negative, which might make diagnosing HD more difficult in this population. However, the balance and gait problems might be helpful in diagnosing HD in elderly patients., (Copyright © 2018 Elsevier Ltd. All rights reserved.)

Objective: A clinical feature in patients with ADCY5 gene mutations are perioral muscle twitches initially described as facial myokymia., Methods: Five patients with ADCY5-associated disease with facial twitches and truncal jerks underwent electrophysiological investigations of the orbicularis oris and trapezius muscles to delineate neurophysiological characteristics of these phenomena., Results: Electromyography (EMG) recordings showed a complex electrophysiological pattern with brief bursts of less than 100 ms and longer bursts with a duration of 100-300 ms up to several seconds in keeping with myoclonus and chorea, respectively, as key findings. None of the patients had EMG patterns of myokymia., Conclusions: In this series of five ADCY5 mutation carriers, perioral twitches and truncal jerks do not represent myokymia. In view of characteristic clinical signs and electrophysiological patterns with a combination of myoclonus and chorea it might be preferable to refer to these phenomena as myoclonus-chorea., (Copyright © 2017 Elsevier Ltd. All rights reserved.)

Benign hereditary chorea (BHC, MIM 118700) is a rare autosomal dominant disorder manifesting with chorea in conjunction with hypothyroidism and respiratory problems, a triad also named "brain-lung-thyroid syndrome". BHC is characterized by childhood onset with minimal or no progression into adult life and normal cognitive function. The genetic basis of BHC has been partially resolved, when mutations in the TTF1 gene on chromosome 14q13 encoding the thyroid transcription factor-1 have been identified in a number of BHC patients, suggesting that aberration of TTF1 transcriptional function or haploinsufficiency is associated with this disorder. TTF1 (also known as TITF1, TEBP or NKX2-1), belonging to the NKX2 homeodomain transcription factor family, has been implicated in several important molecular pathways essential for brain, thyroid and lung morphogenesis. Clinical evaluation of TTF1 gene mutations carrier patients exposed the involvement of each of the triad's components characterized by heterogeneity between index cases and even within families. This review highlights the current updates on expanded clinical aspects of BHC, imaging and treatment experience, its genetic markers, proposed molecular mechanisms, animal models and link to cancer., (Copyright © 2011 Elsevier Ltd. All rights reserved.)

Background: Sydenham's chorea (SC) is a disorder associated with rheumatic fever and related to Streptococcus-induced immune reaction cross-reactive with basal ganglia antigens. Obsessive-compulsive disorder and other behavioral abnormalities have been described in SC. There are scarce data of cognitive function in this condition., Objective: To assess verbal fluency in patients with SC., Patients and Methods: We have compared the semantic (SVF) and phonemic verbal fluency (PVF) of 20 subjects with SC and 40 controls matched by age, gender and years of school., Results: The scores of the control group on the SVF and PVF tests were 26.3 +/- 5.7 and 18.0 +/- 6.4 whereas the SC patients scored 25.1 +/- 6.9 and 12.5 +/- 8.2. PVF was significantly decreased in the SC group (p < 0.01)., Conclusion: SC is associated with reduction of PVF. This finding may reflect disruption of the dorsolateral prefrontal-striatal circuit caused by the auto-immune process characteristic of SC.

We report on a patient who presented with generalized chorea as the first manifestation of Sjogren Syndrome, and review the possible pathogenesis.

Background: Developmental stuttering affects 1% of the population but its cause remains unclear. Recent PET studies of metabolism in the central nervous system suggest that it may be related to dysfunction in the basal ganglia or its connections with regions of the cortex associated with speech and motor control., Objective: To determine the presence and characteristics of involuntary movements (IMs) in people who stutter and to investigate the hypothesis that these movements may be of a very similar nature to the IMs seen in patients with movement disorders due to basal ganglia dysfunction., Methods: Sixteen adults with developmental stuttering and 16 controls matched for sex and age were audio-videotaped while freely speaking 300 words in conversation and reading aloud 300 words. The audio data was inspected for dysfluencies and the video data was scrutinised for the presence and characteristics of IMs., Results: Subjects who stuttered produced more IMs than controls during free speech (354 vs 187, p<0.05) and reading (297 vs 47, p<0.001). Most of the IMs in both groups were tics, with a greater number of both simple and complex motor tics (CMTs) in subjects who stuttered. CMTs were more frequent than simple motor tics in those who stuttered, but not in controls. The combination of repetitive eye blink followed by prolonged eye closure was found exclusively in the stuttering group, as were simple tics consisting of eyebrow raise or jaw movement. Dystonia in the form of blepharospasm was identified in a small number of subjects who stuttered. Choreic movements were not associated with stuttering., Conclusions: Developmental stuttering is associated with the presence of IMs that are predominantly simple and CMTs. This association suggests that tics and stuttering may share a common pathophysiology and supports the view that, in common with tics, stuttering may reflect dysfunction in the basal ganglia or its immediate connections.

We examined the clinical features of familial (n = 26) and sporadic (n = 52) Parkinson's disease (PD) in patients presenting over the age of 40 years. Familial PD cases were tested for alpha-synuclein or parkin mutations as appropriate. No mutations were found in any of the families investigated. We found no between-group differences in the age at onset of PD, the pattern or severity of parkinsonian features, the dose of antiparkinsonian medications or treatment related complications. Cases of familial and sporadic PD in our cohort of patients display similar clinical features. This may suggest similar etiologies for both familial and sporadic PD., (Copyright 2003 Elsevier Science Ltd.)