ataxia syndrome
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2022 ◽  
Vol 72 ◽  
pp. 155-159
Maria Jimena Salcedo-Arellano ◽  
Randi J. Hagerman

2021 ◽  
Vol Publish Ahead of Print ◽  
Jodi L. Nelson ◽  
Gregory M. Blume ◽  
Saurabh K. Bansal ◽  
Jacqueline R. Kaufman ◽  
Florence R. Woods ◽  

2021 ◽  
Vol 20 (6) ◽  
pp. 40-47
Jinna I. Lebedeva ◽  
Tatyana I. Kutergina ◽  
Elena F. Turovinina ◽  
Irina V. Elfimova ◽  
Alexandra S. Orlova

Aim. To evaluate the severity of encephalopathy and the efficacy of the second stage of rehabilitation in patients with post-infectious encephalopathy. Material and methods. The study included 92 patients with post-infectious encephalopathy, who underwent the second stage of rehabilitation after СOVID-19 infection. All patients were divided into 2 groups: those, who were referred to rehabilitation after the end of the treatment (n=54) and those, who refused to undergo rehabilitation (n=38). In all cases the severity of coronavirus infection, percentage of pulmonary involvement (based on chest CT-findings) and the presence of comorbid pathology were assessed. The severity of the prevailing syndromes was assessed using the International Classification of Functioning, Disability and Health (ICF). Patient status dynamics was assessed using Rehabilitation routing scale (RRS), Rivermead, Holden and Hauser scales. Results and discussion. Post-infectious encephalopathy was mainly accompanied by vestibular ataxia syndrome in 51 (55.4%) patients (in 51.9% and 60.5% patients in groups 1 and 2, respectively) and cerebro-asthenic syndrome in 73 (79.3%) patients (in 72.2% and 89.5% patients in groups 1 and 2, respectively). Comprehensive rehabilitation process is characterized by staging aimed at compensating for all components of pathogenesis that affected during the period of severe course of COVID-19 infection. Rehabilitation was an effective measure for the compensation of neurologic complications of COVID-19 infection. After 2 weeks, cerebro-asthenic syndrome was observed in 24.1% patients in group 1 and 71.0% in group 2 (p <0.05), vestibular ataxia syndrome – in 18.5% and 28.9% (p<0.05) of patients in groups 1 and 2, respectively. The current pandemic is highly likely to be accompanied by a significant increase in the prevalence of encephalopathy affecting the ability to return to daily functioning. Conclusion. The main manifestations of post-covid encephalopathy are cerebro-asthenic (79.3%) and vestibular ataxia (55.4%) syndromes. Therapeutic and rehabilitation measures carried out at the 2nd stage of rehabilitation is an effective measure to compensate for the severity of post-covid encephalopathy.

2021 ◽  
Miriam I Rosenberg ◽  
Erez Greenstein ◽  
Martin Buchkovich ◽  
Martin Mikl ◽  
Ayelet Peres ◽  

Neuroblastoma is a lethal childhood solid tumor of developing peripheral nerves. Two percent of children with neuroblastoma develop Opsoclonus Myoclonus Ataxia Syndrome (OMAS), a paraneoplastic disease characterized by cerebellar and brainstem-directed autoimmunity, but typically with outstanding cancer-related outcomes. We compared tumor transcriptomes and tumor infiltrating T- and B-cell repertoires from 38 OMAS subjects with neuroblastoma to 26 non-OMAS associated neuroblastomas. We found greater B- and T-cell infiltration in OMAS-associated tumors compared to controls, but unexpectedly showed that both were polyclonal expansions. Tertiary lymphoid structures (TLS) were enriched in OMAS-associated tumors. We identified significant enrichment of the MHC Class II allele HLA-DOB*01:01 in OMAS patients. OMAS severity scores were associated with the expression of several candidate autoimmune genes. We propose a model in which polyclonal autoreactive B lymphocytes act as antigen presenting cells and drive TLS formation, thereby crucially supporting both sustained polyclonal T-cell-mediated anti-tumor immunity and paraneoplastic OMAS neuropathology.

2021 ◽  
Vol 12 ◽  
Darren R. Hocking ◽  
Danuta Z. Loesch ◽  
Paige Stimpson ◽  
Flora Tassone ◽  
Anna Atkinson ◽  

Introduction: Premutation expansions (55–200 CGG repeats) of the Fragile X Mental Retardation 1 (FMR1) gene on the X chromosome are associated with a range of clinical features. Apart from the most severe - Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) - where the most typical white matter changes affect cerebellar peduncles, more subtle changes may include impairment of executive functioning, affective disorders and/or subtle motor changes. Here we aimed to examine whether performance in selected components of executive functioning is associated with subclinical psychiatric symptoms in non-FXTAS, adult females carrying the FMR1 premutation.Methods and Sample: A total of 47 female premutation carriers (sub-symptomatic for FXTAS) of wide age range (26–77 years; M = 50.3; SD = 10.9) were assessed using standard neuropsychological tests, three motor rating scales and self-reported measures of psychiatric symptoms using the Symptom Checklist-90-Revised (SCL-90-R).Results: After adjusting for age and educational level where appropriate, both non-verbal reasoning and response inhibition as assessed on the Stroop task (i.e., the ability to resolve cognitive interference) were associated with a range of primary psychiatric symptom dimensions, and response inhibition uniquely predicted some primary symptoms and global psychiatric features. Importantly, lower scores (worse performance) in response inhibition were also strongly correlated with higher (worse) scores on standard motor rating scales for tremor-ataxia and for parkinsonism.Conclusion: These results provide evidence for the importance of response inhibition in the manifestation of psychiatric symptoms and subtle tremor-ataxia motor features, suggestive of the presence of early cerebellar changes in female premutation carriers.

2021 ◽  
Vol 15 ◽  
Jared J. Schwartzer ◽  
Dolores Garcia-Arocena ◽  
Amanda Jamal ◽  
Ali Izadi ◽  
Rob Willemsen ◽  

Carriers of the fragile X premutation (PM) can develop a variety of early neurological symptoms, including depression, anxiety and cognitive impairment as well as being at risk for developing the late-onset fragile X-associated tremor/ataxia syndrome (FXTAS). The absence of effective treatments for FXTAS underscores the importance of developing efficacious therapies to reduce the neurological symptoms in elderly PM carriers and FXTAS patients. A recent preliminary study reported that weekly infusions of Allopregnanolone (Allop) may improve deficits in executive function, learning and memory in FXTAS patients. Based on this study we examined whether Allop would improve neurological function in the aged CGG knock-in (CGG KI) dutch mouse, B6.129P2(Cg)-Fmr1tm2Cgr/Cgr, that models much of the symptomatology in PM carriers and FXTAS patients. Wild type and CGG KI mice received 10 weekly injections of Allop (10 mg/kg, s.c.), followed by a battery of behavioral tests of motor function, anxiety, and repetitive behavior, and 5-bromo-2′-deoxyuridine (BrdU) labeling to examine adult neurogenesis. The results provided evidence that Allop in CGG KI mice normalized motor performance and reduced thigmotaxis in the open field, normalized repetitive digging behavior in the marble burying test, but did not appear to increase adult neurogenesis in the hippocampus. Considered together, these results support further examination of Allop as a therapeutic strategy in patients with FXTAS.

2021 ◽  
Vol 108 (12) ◽  
pp. 2385
Shereen G. Ghosh ◽  
Kerstin Becker ◽  
He Huang ◽  
Tracy D. Salazar ◽  
Guoliang Chai ◽  

Lisette Dominguez ◽  
Iris Vanessa Marin Collazo ◽  
Elia Sechi ◽  
Parker Bohm ◽  
Sebastian Lopez Chiriboga

2021 ◽  
pp. 618-631
Anhar Hassan

Disorders of the cerebellum or its circuitry can result in ataxia. These disorders may be acquired or inherited. Inherited ataxias may be autosomal recessive (eg. Friedrich ataxia), autosomal dominant (eg, spinal cerebellar atrophy) or X linked (eg, fragile X–associated ataxia syndrome). Chapter 73 (“Cerebellar Disorders and Ataxias: Acquired Disorders”) reviews the clinical approach to patients with ataxia and discusses acquired forms of ataxia. This chapter reviews clinical approaches, diagnostic details, and treatment of inherited ataxias.

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