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Given the high morbidity related to the progression of gait deficits in spinocerebellar ataxias (SCA), there is a growing interest in identifying biomarkers that can guide early diagnosis and rehabilitation. Spatiotemporal parameter (STP) gait analysis using inertial measurement units (IMUs) has been increasingly studied in this context. This study evaluated STP profiles in SCA types 3 and 10, compared them to controls, and correlated them with clinical scales. IMU portable sensors were used to measure STPs under four gait conditions: self-selected pace (SSP), fast pace (FP), fast pace checking-boxes (FPCB), and fast pace with serial seven subtractions (FPS7). Compared to healthy subjects, both SCA groups had higher values for step time, variability, and swing time, with lower values for gait speed, cadence, and step length. We also found a reduction in speed gain capacity in both SCA groups compared to controls and an increase in speed dual-task cost in the SCA10 group. However, there were no significant differences between the SCA groups. Swing time, mean speed, and step length were correlated with disease severity, risk of falling and functionality in both clinical groups. In the SCA3 group, fear of falling was correlated with cadence. In the SCA10 group, results of the Montreal cognitive assessment test were correlated with step time, mean speed, and step length. These results show that individuals with SCA3 and SCA10 present a highly variable, short-stepped, slow gait pattern compared to healthy subjects, and their gait quality worsened with a fast pace and dual-task involvement. [ABSTRACT FROM AUTHOR]

The prevalence of neurological syndromes associated with antibodies to glutamic acid decarboxylase is increasing. While cognitive impairment is a common feature of this condition, it seldom emerges as the primary symptom. In this study, we discuss a case of refractory dementia associated with the glutamic acid decarboxylase spectrum disorder. Interestingly, this case showed a favorable outcome following autologous hematopoietic stem cell transplantation. We also provide an in-depth review of the current literature on the use of this therapeutic approach for the treatment of this disease. [ABSTRACT FROM AUTHOR]

Acute neurological emergencies are highly prevalent in intensive care units (ICUs) and impose a substantial burden on patients. This study aims to describe the epidemiology of patients requiring neurocritical care in Brazil, and their differences based on primary acute neurological diagnoses and to identify predictors of mortality and unfavourable outcomes, along with the disease burden of each condition at intensive care unit admission. This prospective cohort study included patients requiring neurocritical care admitted to 36 ICUs in four Brazilian regions who were followed for 30 days or until ICU discharge (Aug-Sep in 2018, 1 month). Of 4245 patients admitted to the participating ICUs, 1194 (28.1%) were patients with acute neurological disorders requiring neurocritical care and were included. Patients requiring neurocritical care had a mean mortality rate 1.7 times higher than ICU patients not requiring neurocritical care (17.21% versus 10.1%, respectively). Older age, emergency admission, higher number of potential secondary injuries, and worse APACHE II, SAPS III, SOFA, and Glasgow coma scale scores on ICU admission are independent predictors of mortality and poor outcome among patients with acute neurological diagnoses. The estimated total DALYs were 4482.94 in the overall cohort, and the diagnosis with the highest DALYs was traumatic brain injury (1634.42). Clinical, epidemiological, treatment, and ICU outcome characteristics vary according to the primary neurologic diagnosis. Advanced age, a lower GCS score and a higher number of potential secondary injuries are independent predictors of mortality and unfavourable outcomes in patients requiring neurocritical care. The findings of this study are essential to guide education policies, prevention, and treatment of severe acute neurocritical diseases. [ABSTRACT FROM AUTHOR]

Background: Traumatic brain injury (TBI) has substantial physical, psychological, social and economic impacts, with high rates of morbidity and mortality. Considering its high incidence, the aim of this study was to identify epidemiological and clinical characteristics that predict mortality in patients hospitalized for TBI in intensive care units (ICUs). Methods: A retrospective cohort study was carried out with patients over 18 years old with TBI admitted to an ICU of a Brazilian trauma referral hospital between January 2012 and August 2019. TBI was compared with other traumas in terms of clinical characteristics of ICU admission and outcome. Univariate and multivariate analyses were used to estimate the odds ratio for mortality. Results: Of the 4816 patients included, 1114 had TBI, with a predominance of males (85.1%). Compared with patients with other traumas, patients with TBI had a lower mean age (45.3 ± 19.1 versus 57.1 ± 24.1 years, p < 0.001), higher median APACHE II (19 versus 15, p < 0.001) and SOFA (6 versus 3, p < 0.001) scores, lower median Glasgow Coma Scale (GCS) score (10 versus 15, p < 0.001), higher median length of stay (7 days versus 4 days, p < 0.001) and higher mortality (27.6% versus 13.3%, p < 0.001). In the multivariate analysis, the predictors of mortality were older age (OR: 1.008 [1.002–1.015], p = 0.016), higher APACHE II score (OR: 1.180 [1.155–1.204], p < 0.001), lower GCS score for the first 24 h (OR: 0.730 [0.700–0.760], p < 0.001), greater number of brain injuries and presence of associated chest trauma (OR: 1.727 [1.192–2.501], p < 0.001). Conclusion: Patients admitted to the ICU for TBI were younger and had worse prognostic scores, longer hospital stays and higher mortality than those admitted to the ICU for other traumas. The independent predictors of mortality were older age, high APACHE II score, low GCS score, number of brain injuries and association with chest trauma. [ABSTRACT FROM AUTHOR]

Introduction: Functional neurological disorders (FND) are conditions that cause to alterations in nervous system functions. They are disabling and impair the quality of life of patients but that are potentially reversible provided they have specific management. Functional seizures (FS) and functional movement disorder (FMD) are among the most common subtypes. Studies suggest a strong overlap between FS and FMD; however, there are still no cross-sectional studies that compare the management between these two conditions. Thus, our focus was to carry out a research that compares how these two subtypes of FND are being managed, in addition to assessing rates of understanding and acceptance of a diagnosis of FND. Methods: It is a cross-sectional study with data collected from medical records and interviews with two patients' groups (FS and FMD) treated from a FND clinic of the public health system of Brazil. Results: From 105 medical records of patients with FND analyzed, 60 participants were eligible and agreed to participate in this research, being FS (n = 31) and FMD (n = 29). Statistically significant differences (p < 0.05) were found in the use of antiseizure (FS > FMD), opioids (FMD > FS), multi-professional follow-up (FMD > FS) and rates of understanding and acceptance of an FND diagnosis (FMD > FS). Similarities were found in sociodemographic profiles, medical follow-up, psychiatric comorbidities and use of antidepressants, anxiolytics, antipsychotics and mood stabilizers between two conditions. Conclusion: More similarities than differences in management were found between FS and FMD. Similarities may be related to overlaps in sociodemographic and clinical characteristics between the two groups. Differences may be related to specific issues of each patient and condition. Regardless of the group, patients who perform psychotherapeutic follow-up have higher rates of understanding and acceptance of an FND diagnosis. [ABSTRACT FROM AUTHOR]

Hence, the patient was diagnosed with BHC, within the NKX2-1 spectrum disorder, and molar tooth agenesis - because of the mutation on the PAX-9 gene, both located contiguously on chromosome 14. Keywords: hyperkinetic movement disorders; chorea; movement disorders genetics; benign hereditary chorea; selective tooth agenesis EN hyperkinetic movement disorders chorea movement disorders genetics benign hereditary chorea selective tooth agenesis S35 S37 3 08/28/23 20230802 NES 230802 Chorea is a hyperkinetic movement disorder characterized by involuntary, random, abrupt, brief, and unpredictable jerky movements that flow from one part of the body to another, associated with motor impersistence. Hyperkinetic movement disorders, chorea, movement disorders genetics, benign hereditary chorea, selective tooth agenesis. [Extracted from the article]

Introduction. Brain SPECT with 99mTc-TRODAT-1 (SPECT-TRODAT) may be a useful tool in the differential diagnosis of Parkinsonism. Objective. To compare results of SPECT-TRODAT with clinical findings in patients with Parkinsonism. Methods. We evaluated 153 outpatients. SPECT-TRODAT results were visually analyzed into normal, abnormal, symmetric, and asymmetric, and according to the degree of impairment into mild, moderate, marked, and severe (1–4). Results. A direct relationship was found between motor scores severity (MDS-UPDRS-III) and SPECT-TRODAT-reduced binding in general, in the group of patients with synucleinopathies (rho = 0.258, p = 0.005), especially in patients with Parkinson's disease (rho = 0.204, p = 0.049). Changes in SPECT-TRODAT had high correspondence with symmetry in all Parkinsonism. When comparing groups to the correspondence predominantly bilateral or unilateral impairment in SPECT, there was a difference between patients with SNP (p = 0.041) and between this group and patients with secondary Parkinsonism (SP) (p < 0.0001). It was handy in differentiating drug-induced Parkinsonism from synucleinopathies. In the group of drug-induced Parkinsonism, younger people were the ones who showed the most significant reductions in radiotracer uptake. In this group, nonmotor signs resulted in examinations with more significant reductions in radiotracer uptake. When the scans without alterations and those that did not correspond to the symmetry were considered negative, SPECT-TRODAT's accuracy and specificity to differentiate PD from other forms of Parkinsonism were low. There was an inverse correlation between the severity of the SPECT-TRODAT result and the absence of nonmotor signs in patients with drug-induced Parkinsonism. Conclusion. The authors concluded that the SPECT with 99mTc-TRODAT-1 was mainly useful in differentiating between synucleinopathies and secondary Parkinsonism. [ABSTRACT FROM AUTHOR]

Background: Neurodegenerative diseases are sporadic hereditary conditions characterized by progressive dysfunction of the nervous system. Among the symptoms, vestibulopathy is one of the causes of discomfort and a decrease in quality of life. Hereditary spastic paraplegia is a heterogeneous group of hereditary degenerative diseases involving the disorder of a single gene and is characterized by the progressive retrograde degeneration of fibers in the spinal cord. Objective: To determine the benefits of vestibular rehabilitation involving virtual reality by comparing pre intervention and post intervention assessments in individuals with hereditary spastic paraplegia. Methods: In this randomized controlled clinical trial from the Rebec platform RBR-3jmx67 in which allocation concealment was performed and the evaluators be blinded will be included. The participants will include 40 patients diagnosed with hereditary spastic paraplegia. The interventions will include vestibular rehabilitation with virtual reality using the Wii® console, Wii-Remote and Wii Balance Board (Nintendo), and the studies will include pre- and post intervention assessments. Group I will include twenty volunteers who performed balance games. Group II will include twenty volunteers who performed balance games and muscle strength games. The games lasted from 30 minutes to an hour, and the sessions were performed twice a week for 10 weeks (total: 20 sessions). Results: This study provides a definitive assessment of the effectiveness of a virtual reality vestibular rehabilitation program in halting the progression of hereditary spastic paraplegia, and this treatment can be personalized and affordable. Conclusion: The study will determine whether a vestibular rehabilitation program with the Nintendo Wii® involving virtual reality can reduce the progressive effect of hereditary spastic paraplegia and serve as an alternative treatment option that is accessible and inexpensive. Rebec platform trial: RBR-3JMX67. [ABSTRACT FROM AUTHOR]

Spinocerebellar ataxias type 3 (SCA3) and type 10 (SCA10) are the most prevalent in southern Brazil. To analyze the relationships between volumetric MRI changes and clinical and genetic findings in SCA3 and SCA10 patients. All patients in the study had a confirmed genetic diagnosis. Demographic data, ataxia severity (SARA score), and the size of the expanded alleles were evaluated. Nineteen SCA3 and 18 SCA10 patients were selected and compared with a similar number of healthy controls. Patient and control groups underwent the same MRI protocol. The standard FreeSurfer pipeline was used for the morphometric data. Our results show more affected brain structures (volume reductions) in SCA3 patients than in SCA10 patients (15 vs. 5 structures). Volume reductions in brain structures were also greater in the former. The main areas with significant volumetric reductions in the former were the cerebellum, basal ganglia, brain stem, and diencephalon, whereas in the latter, significant volume reductions were observed in the cerebellum and pallidum. While SARA scores and disease duration were more correlated with volume reduction in SCA10, in SCA3, the expansion length (CAGn) correlated positively with cerebellar WM, thalamus, brain stem, and total GM volumes. There was no correlation between expansion length (ATTCTn) and neuroimaging findings in SCA10. Neuroimaging results differed significantly between SCA3 and SCA10 patients and were compatible with the differences in clinical presentation, disease progression, and molecular findings. [ABSTRACT FROM AUTHOR]

Machado-Joseph disease (MJD), or spinocerebellar ataxia type 3, was originally described in members of the families of Machado, Thomas, and Joseph from São Miguel Island, Azores, Portugal, in 1972. The purpose of this article is to present previous descriptions of hereditary ataxia resembling the heterogeneous phenotypic intra-familiar presentation of MJD. We suggest that the condition would best be called dominant spino-pontine atrophy. [ABSTRACT FROM AUTHOR]

Introduction Spinocerebellar ataxia (SCA) is part of a genetic and clinical heterogeneous group of neurodegenerative diseases characterized by progressive cerebellar ataxia. Objective To describe the results of audiological and electrophysiological hearing evaluations in patients with sporadic ataxia (SA). Methods A retrospective cross-sectional study was carried out with 11 patients submitted to the following procedures: anamnesis, otorhinolaryngological evaluation, tonal and vocal audiometry, acoustic immittance and brainstem auditory evoked potential (BAEP) tests. Results The patients presented with a prevalence of gait imbalance, of dysarthria, and of dysphagia; in the audiometric and BAEPs, four patients presented with alterations; in the acoustic immittance test, five patients presented with alterations, predominantly bilateral. Conclusion The most evident alterations in the audiological evaluation were the prevalence of the descending audiometric configuration between the frequencies of 2 and 4 kHz and the absence of the acoustic reflex between the frequencies of 3 and 4 kHz bilaterally. In the electrophysiological evaluation, the patients presented changes with a prevalence of increased I, III and V wave latencies and the interval in the interpeak I-III, I-V and III-V. In the present study, it was observed that auditory complaints did not have a significant prevalence in this type of ataxia, which does not occur in some types of autosomal recessive and dominant ataxia. [ABSTRACT FROM AUTHOR]

Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant disorder in which patients have a slowly progressive cerebellar ataxia, with dysarthria, dysphagia, and epilepsy. The aims of this study were to characterize the phenotypic expression of SCA10 and to examine its genotype-phenotype relationships. Ninety-one Brazilian patients with SCA10 from 16 families were selected. Clinical and epidemiological data were assessed by a standardized protocol, and severity of disease was measured by the Scale for the Assessment and Rating of Ataxia (SARA). The mean age of onset of symptoms was 34.8 ± 9.4 years. Sixty-two (68.2%) patients presented exclusively with pure cerebellar ataxia. Only 6 (6.6%) of the patients presented with epilepsy. Patients with epilepsy had a mean age of onset of symptoms lower than that of patients without epilepsy (23.5 ± 15.5 years vs 35.4 ± 8.7 years, p = 0.021, respectively). All cases of intention tremor were in women from one family. This family also had the lowest mean age of onset of symptoms, and a higher percentage of SCA10 cases in women. There was a positive correlation between duration of disease and severity of ataxia (rho = 0.272, p = 0.016), as quantified by SARA. We did not find a statistically significant correlation between age of onset of symptoms and expansion size (r = − 0.163, p = 0.185). The most common clinical presentation of SCA10 was pure cerebellar ataxia. Our data suggest that patients with epilepsy may have a lower age of onset of symptoms than those who do not have epilepsy. These findings and the description of a family with intention tremor in women with earlier onset of symptoms draw further attention to the phenotypic variability of SCA10. [ABSTRACT FROM AUTHOR]

Background: Neurodegenerative diseases may progress to a level in which patients present spontaneous weight loss, resulting in increased falls and functional disabilities when the disease is associated with muscle mass depletion. Objective: Evaluate the muscle compartment in patients presenting spinocerebellar ataxia (SCA) type 3 and 10. Methods: Forty-six patients presenting SCA type 3 and 10 were assessed and 76 volunteers were selected to the control group. In order to evaluate the muscle compartment, muscle mass anthropometric measurements were assessed and total skeletal muscle mass calculated through a predictive equation. Results: Women with SCA3 presented greater weight loss and muscle mass reduction compared to those with SCA10 and the control group. Among the predictive measurements, calf muscle circumference showed a more significant correlation with total skeletal muscle mass (p = 0.718). Conclusion: Patients presenting both types of ataxia did not show severe depletion in their nutritional status; however, those with SCA3 displayed greater weight loss and muscle mass reduction compared to the SCA10 group. [ABSTRACT FROM AUTHOR]

David Marsden was one of the most renowned neuroscientists of the twentieth century. His scientific contributions in the specialty of movement disorders are recognized worldwide, particularly in the area of Parkinson's disease and also in hyperkinesias, such as dystonia and myoclonus. [ABSTRACT FROM AUTHOR]

Spinocerebellar ataxia type 2 (SCA2) is characterized by a progressive cerebellar syndrome, and additionally saccadic slowing, cognitive dysfunction, and sleep disorders. The aim of this study was to assess the frequency of abnormal findings in sleep recordings of patients with SCA2. Seventeen patients with genetically confirmed SCA2 from the Movement Disorders Outpatient group of the Hospital de Clínicas da UFPR were evaluated with a structured medical interview and the Scale for the Assessment and Rating of Ataxia (SARA). Polysomnographic recordings were performed and sleep stages were scored according to standard criteria. There were 10 male subjects and 7 females, aged 24–66 years (mean 47.44). A sex- and age-matched control group of healthy subjects was used for comparison. There was a reduction of rapid eye movement (REM) sleep in 12 (70.58%), increased REM latency in 9 (52.94%), increased obstructive sleep apnea-index in 14 (82.35%), absent REM density (REM density was calculated as the total number of 3-s miniepochs of REM sleep with at least 1 REM per minute) in 13 (76.47%), and markedly reduced REM density in 4 (23.52%). There was an indirect correlation according to the SARA scale and the REM density decrease (r = − 0.6; P = < 0.001); and with a disease progression correlating with a reduction in the REM density (r = − 0.52, P = 0.03). In SCA2, changes occur mainly REM sleep. The absence/decrease of REM sleep density, even in oligosymptomatic patients, and the correlation of this finding with disease time and with the SARA scale were the main findings of the study. [ABSTRACT FROM AUTHOR]

Patients with Parkinson disease dementia (PDD) have deficits resulting mainly from frontostriatal dysfunction. The aim of this study was to assess the effectiveness of reality orientation therapy (ROT) combined with drug therapy (acetylcholinesterase inhibitors) in PDD treatment and compare it with that of drug therapy alone. Patients (n = 12) with a diagnosis of PDD were divided into 2 groups: group A--drug therapy and ROT; group B--drug therapy alone. Reality orientation therapy was applied weekly for 6 months, and patients were assessed during the same period. Significant improvements in frontostriatal deficits were observed in the group that received the combined therapy, as shown mainly by the scores in verbal fluency in the Consortium to Establish a Registry for Alzheimer's Disease (CERAD) battery (P = .02) and in attention in Scales for outcomes of Parkinson's Disease-Cognition (P = .021) and Clock Drawing Test (P = .037). Patients who received only medication had worse results in constructional praxis recall in the CERAD battery (P = .037). Our results indicate that ROT may help in the treatment of frontostriatal cognitive deficits and can potentially be used to complement drug therapy. [ABSTRACT FROM AUTHOR]

Jean-Martin Charcot, one of the most brilliant neurologists in history, was a man of few words and few gestures. He had an impenetrable and unmovable face and was described as being austere, reserved, and shy. In contrast, in his personal life, he was a softhearted man who loved animals – especially dogs. In this historical note, we sought to look into the past and learn more about Dr. Charcot's personal life – which was robustly impacted by his passion for dogs. [ABSTRACT FROM AUTHOR]

Autosomal recessive cerebellar ataxias (ARCAs) represent a heterogeneous group of inherited disorders. The association of early-onset cerebellar ataxia with hypogonadotropic hypogonadism is related to two syndromes, known as Gordon Holmes syndrome (GHS—ataxia and pyramidal signs with hypogonadotropic hypogonadism) and Boucher-Neuhäuser syndrome (BNS—ataxia with chorioretinal dystrophy). Mutations in the PNPLA6 gene have been identified as the cause of hereditary spastic paraplegia and complex forms of ataxia associated with retinal and endocrine manifestations. We reported two Brazilian patients with sporadic, progressive cerebellar ataxia, associated with hypogonadotropic hypogonadism, in whom the GHS and BNS were confirmed by the demonstration of compound heterozygote mutations in the PNPLA6 gene. Genetic analysis of the patient 1 revealed compound heterozygous mutations, one allele in exon 34 and the other allele in exon 29. Genetic exam of the patient 2 also demonstrated compound heterozygous mutations. Three were novel mutations. The missense mutation c.3373G> A, found in the BNS patient, was previously related to Oliver-McFarlane syndrome. These different mutations in this gene suggest a complex phenotype associated disease spectrum. [ABSTRACT FROM AUTHOR]

Introduction Friedreich's ataxia is a neurodegenerative disease and progressive by nature. It has autosomal recessive inheritance and early onset inmost cases. Nystagmus and hearing loss (in some cases) make up some of the common symptoms seen in this disorder. Objective The objective of this study is to examine vestibular disorders in patientswith Friedreich ataxia. Methods We conducted a retrospective cross-sectional study. We evaluated 30 patients with ages ranging from six to 72 years (mean age of 38.6 ( ° 14.7). The patients underwent the following procedures: anamnesis, ENT, and vestibular evaluations. Results Clinically, the patients commonly had symptoms of incoordination of movement (66.7%), gait disturbances (56.7%), and dizziness (50%). In vestibular testing, alterations were predominantly evident under caloric testing (73.4%), gaze nystagmus testing (50.1%), rotational chair testing (36.7%), and optokinetic nystagmus testing (33.4%). The presence of alterations occurred under examination in 90% of subjects, with the majority occurring in those with central vestibular dysfunction (70% of the examinations). Conclusion The most evident neurotological symptoms were incoordination of movement, gait disturbances, and dizziness. Alterations in vestibular examinations occurred in 90% of patients, mostly in the caloric test, with a predominance of deficient central vestibular system dysfunction. [ABSTRACT FROM AUTHOR]

Neuropsychiatric symptoms and pain are among the most common nonmotor symptoms of Parkinson’s disease (PD). The correlation between pain and PD has been recognized since its classic descriptions. Pain occurs in about 60% of PD patients, two to three times more frequent in this population than in age matched healthy individuals. It is an early and potentially disabling symptom that can precede motor symptoms by several years. The lower back and lower extremities are the most commonly affected areas. The most used classification for pain in PD defines musculoskeletal, dystonic, central, or neuropathic/radicular forms. Its different clinical characteristics, variable relationship with motor symptoms, and inconsistent response to dopaminergic drugs suggest that the mechanism underlying pain in PD is complex and multifaceted, involving the peripheral nervous system, generation and amplification of pain by motor symptoms, and neurodegeneration of areas related to pain modulation. Although pain in DP is common and a significant source of disability, its clinical characteristics, pathophysiology, classification, and management remain to be defined. [ABSTRACT FROM AUTHOR]

Our case further broadens the clinical presentation of SCA21, starting with upper extremities tremor, at first mimicking ET, followed by focal hand dystonia, suggesting a dystonic tremor, according to the new consensus statement on the classification of tremors [5]. Keywords: dystonia; SCA21; spinocerebellar ataxia; tremor EN dystonia SCA21 spinocerebellar ataxia tremor e63 e64 2 07/27/21 20210801 NES 210801 Dear Editor, We congratulate Riso et al. [1] for their excellent recent publication titled "A NGS-Based Analysis on a Large Cohort of Ataxic Patients Refines the Clinical Spectrum Associated With SCA21", in which they present four new families of Italian and Libyan origin with spinocerebellar ataxia type 21 (SCA21) and discuss the wide phenotypic diversity of this disease. In this setting, the possibility of cerebellar cognitive affective syndrome should also be considered among spinocerebellar ataxia patients, although findings are not consistent, and patients with SCA21 may not have cognitive impairment. [Extracted from the article]