journal
MENU ▼
Read by QxMD icon Read
search

Cerebellum & Ataxias

journal
https://read.qxmd.com/read/30873288/delayed-fenestration-of-blake-s-pouch-with-or-without-vermian-hypoplasia-fetal-mri-at-3-tesla-versus-1-5-tesla
#1
Thomas Kau, Robert Birnbacher, Peter Schwärzler, Sandra Habernig, Hannes Deutschmann, Eugen Boltshauser
Background: Fetal magnetic resonance imaging (MRI), mainly performed at standard field strength, plays a role in the classification of posterior fossa malformations. In the context of early second-trimester screening, upward rotation of the cerebellar vermis per se is usually compatible with a more favorable outcome than Dandy-Walker malformation and profound vermian hypoplasia. Delayed fenestration of Blake's pouch may either mimic vermian hypoplasia by compression or be associated with it in individual cases...
2019: Cerebellum & Ataxias
https://read.qxmd.com/read/30873287/insights-into-cognitive-decline-in-spinocerebellar-ataxia-type-2-a-p300-event-related-brain-potential-study
#2
Roberto Rodríguez-Labrada, Luis Velázquez-Pérez, Ricardo Ortega-Sánchez, Arnoy Peña-Acosta, Yaimeé Vázquez-Mojena, Nalia Canales-Ochoa, Jacqueline Medrano-Montero, Reidenis Torres-Vega, Yanetza González-Zaldivar
Background: Cognitive decline is a common non-motor feature characterizing Spinocerebellar Ataxia type 2 (SCA2) during the prodromal stage, nevertheless a reduced number of surrogate biomarkers of these alterations have been described. Objective: To provide insights into cognitive dysfunction in SCA2 patients using P300 event-related potentials (ERP) and to evaluate these measures as biomarkers of the disease. Methods: A cross-sectional study was performed with 30 SCA2 patients, 20 preclinical carriers and 33 healthy controls, who underwent visual, auditory P300 ERPs, and neurological examinations and ataxia scoring...
2019: Cerebellum & Ataxias
https://read.qxmd.com/read/30680221/slow-saccades-in-cerebellar-disease
#3
REVIEW
Kelsey Jensen, Sinem Balta Beylergil, Aasef G Shaikh
Eye movements are frequently considered diagnostic markers indicating involvement of the cerebellum. Impaired amplitude of saccades (saccade dysmetria), impaired gaze holding function (horizontal or downbeat nystagmus), and interrupted (choppy) pursuit are typically considered hallmarks of cerebellar disorders. While saccade dysmetria is a frequently considered abnormality, the velocity of saccades are rarely considered part of the constellation of cerebellar involvement. Reduced saccade velocity, frequently called "slow saccades" are typically seen in a classic disorder of the midbrain called progressive supranuclear palsy...
2019: Cerebellum & Ataxias
https://read.qxmd.com/read/30479783/transcranial-magnetic-stimulation-for-diplopia-in-a-patient-with-spinocerebellar-ataxia-type-6-a-case-report
#4
Kentaro Kawamura, Seiji Etoh, Megumi Shimodozono
Background: In Patients with spinocerebellar ataxia type 6 (SCA6) are often treated by transcranial magnetic stimulation (TMS) over the motor cortex and cerebellum. However, few reports have examined effective therapeutic modalities for diplopia in SCA6 patients. In the current case, we applied single-pulse TMS over the motor cortex and cerebellum to improve ataxia, and observed an unexpected improvement of diplopia. Case presentation: A 62-year-old Japanese male with spinocerebellar ataxia type 6 (SCA6) was admitted to our hospital for exacerbation of ataxia...
2018: Cerebellum & Ataxias
https://read.qxmd.com/read/30410779/cerebellar-radiological-abnormalities-in-children-with-neurofibromatosis-type-1-part-1-clinical-and-neuroimaging-findings
#5
Michael S Salman, Shakhawat Hossain, Lina Alqublan, Martin Bunge, Katya Rozovsky
Background: Many children with neurofibromatosis type 1 (NF1) have focal abnormal signal intensities (FASI) on brain MRI, whose full clinical impact and natural history have not been studied systematically. Our aims are to describe the clinical and neuroradiological features in children with NF1 and cerebellar FASI, and report on the natural history of FASI that display atypical features such as enhancement and mass effect. Method: A retrospective review of the hospital charts and brain MRIs was performed on children from Manitoba diagnosed between 1999 and 2008 with NF1, who also had cerebellar FASI on MRI...
2018: Cerebellum & Ataxias
https://read.qxmd.com/read/30410778/cerebellar-radiological-abnormalities-in-children-with-neurofibromatosis-type-1-part-2-a-neuroimaging-natural-history-study-with-clinical-correlations
#6
Michael S Salman, Shakhawat Hossain, Samantha Gorun, Lina Alqublan, Martin Bunge, Katya Rozovsky
Background: Focal abnormal signal intensities (FASI) on brain MRI occur commonly in patients with neurofibromatosis type 1 (NF1). The natural history of cerebellar FASI and their correlation with clinical features have not been studied comprehensively. Our aims are to describe the natural history of cerebellar FASI on repeat MRI scans and correlate the findings with the clinical features in children with NF1 and cerebellar FASI. Method: A retrospective review of 226 brain MRI scans and hospital charts was performed in 50 patients with cerebellar FASI, who were diagnosed with NF1 during their childhood between 1999 and 2008...
2018: Cerebellum & Ataxias
https://read.qxmd.com/read/30377535/successful-treatment-of-a-genetic-childhood-ataxia-due-to-riboflavin-transporter-deficiency
#7
Judy Fan, Brent L Fogel
Background: Riboflavin transporter deficiency (Brown-Vialetto-Van Laere syndrome) is a rare recessive neurodegenerative disorder that can present with gait ataxia, primarily due to sensory neuropathy as well as cerebellar involvement. Although sensorineural hearing loss, bulbar palsy, and optic atrophy are typical, presentation may be variable and an atypical condition may be difficult to recognize clinically. Case presentation: Here we report a patient presenting at age 8 with progressive ataxia since the age of 2...
2018: Cerebellum & Ataxias
https://read.qxmd.com/read/30345063/the-role-of-cerebellar-impairment-in-emotion-processing-a-case-study
#8
Alexandra K Gold, Rosemary Toomey
Background: Though the cerebellum's role in visuospatial and fine motor functioning has been well-established over the last several years, the role of the cerebellum in emotion has more recently been a focus of scientific inquiry. Cerebellar impairment has been associated with deficits in emotional processing and is linked to a wide range of clinical behaviors including social withdrawal, blunted emotional expression, and impulsivity. In addition, cerebellar impairments have been associated with the onset of psychiatric disorders including major depressive disorder and, more recently, obsessive-compulsive disorder...
2018: Cerebellum & Ataxias
https://read.qxmd.com/read/30087782/correction-to-participation-of-the-caudal-cerebellar-lobule-ix-to-the-dorsal-attentional-network
#9
Stephen Ramanoel, Elizabeth York, Christophe Habas
[This corrects the article DOI: 10.1186/s40673-018-0088-8.].
2018: Cerebellum & Ataxias
https://read.qxmd.com/read/29942533/participation-of-the-caudal-cerebellar-lobule-ix-to-the-dorsal-attentional-network
#10
Ramanoel Stephen, York Elizabeth, Habas Christophe
Background: We seeked for specific cerebellar contribution within the dorsal attentional network (DAN), using Independent Component Analysis (ICA). Methods: ICA-based analysis was performed on brain resting-state functional images of 19 volunteers. Results: We confirmed that DAN includes bilaterally: lobules VI-VII (crus I) and VIIB-VIIIA, as previously reported by Region-Of-Interest (ROI)-based functional connectivity studies. We also found that lobule IX (tonsillae), and as well as the superior and, likely, inferior colliculi...
2018: Cerebellum & Ataxias
https://read.qxmd.com/read/29610671/the-mystery-of-the-cerebellum-clues-from-experimental-and-clinical-observations
#11
REVIEW
Charlotte Lawrenson, Martin Bares, Anita Kamondi, Andrea Kovács, Bridget Lumb, Richard Apps, Pavel Filip, Mario Manto
The cerebellum has a striking homogeneous cytoarchitecture and participates in both motor and non-motor domains. Indeed, a wealth of evidence from neuroanatomical, electrophysiological, neuroimaging and clinical studies has substantially modified our traditional view on the cerebellum as a sole calibrator of sensorimotor functions. Despite the major advances of the last four decades of cerebellar research, outstanding questions remain regarding the mechanisms and functions of the cerebellar circuitry. We discuss major clues from both experimental and clinical studies, with a focus on rodent models in fear behaviour, on the role of the cerebellum in motor control, on cerebellar contributions to timing and our appraisal of the pathogenesis of cerebellar tremor...
2018: Cerebellum & Ataxias
https://read.qxmd.com/read/29568536/cerebellar-cognitive-affective-syndrome-insights-from-joubert-syndrome
#12
Chelsea L Hickey, Janet C Sherman, Paula Goldenberg, Amy Kritzer, Paul Caruso, Jeremy D Schmahmann, Mary K Colvin
Background: Joubert syndrome (JS) is a rare, autosomal recessively inherited genetic disorder characterized morphologically by unique developmental malformations of the cerebellum and brainstem (the molar tooth sign), and clinically by impaired motor functions and intellectual disability. Patients with JS often face multiple cognitive challenges, but the neuropsychological profile of this condition has not been well characterized. Methods: We performed comprehensive neurological and neuropsychological evaluations in three adult brothers with JS, ages 32, 27, and 25 years...
2018: Cerebellum & Ataxias
https://read.qxmd.com/read/29564144/spinocerebellar-ataxia-17-full-phenotype-in-a-41-cag-caa-repeats-carrier
#13
Paola Origone, Fabio Gotta, Merit Lamp, Lucia Trevisan, Alessandro Geroldi, Davide Massucco, Matteo Grazzini, Federico Massa, Flavia Ticconi, Matteo Bauckneht, Roberta Marchese, Giovanni Abbruzzese, Emilia Bellone, Paola Mandich
Background: Spinocerebellar ataxia 17 (SCA17) is one of the most heterogeneous forms of autosomal dominant cerebellar ataxias with a large clinical spectrum which can mimic other movement disorders such as Huntington disease (HD), dystonia and parkinsonism. SCA17 is caused by an expansion of CAG/CAA repeat in the Tata binding protein ( TBP ) gene. Normal alleles contain 25 to 40 CAG/CAA repeats, alleles with 50 or greater CAG/CAA repeats are pathological with full penetrance. Alleles with 43 to 49 CAG/CAA repeats were also reported and their penetrance is estimated between 50 and 80%...
2018: Cerebellum & Ataxias
https://read.qxmd.com/read/29556411/the-combined-effect-of-cranial-nerve-non-invasive-neuromodulation-with-high-intensity-physiotherapy-on-gait-and-balance-in-a-patient-with-cerebellar-degeneration-a-case-report
#14
Andisheh Bastani, L Eduardo Cofré Lizama, Maryam Zoghi, Grant Blashki, Stephen Davis, Andrew H Kaye, Fary Khan, Mary P Galea
Background: Cranial-nerve non-invasive neuromodulation (CN-NINM) using the portable neuromodulation stimulator (PoNS™) device has been proposed as a novel adjuvant intervention to improve efficacy of gait and balance. This device modulates input and output signals during motor tasks which prompts neuroplastic changes. In this study, we investigated the efficacy of physiotherapy using the PoNS™ in a case with cerebellar degeneration. Case presentation: The PoNS™ was used during a high-intensity physiotherapy programme delivered over 2 weeks (2 × 1...
2018: Cerebellum & Ataxias
https://read.qxmd.com/read/29468083/research-note-a-resting-state-cerebello-amygdaloid-intrinsically-connected-network
#15
Christophe Habas
Background: Previous ROI-based functional connectivity studies found functional coherence between cerebellum and cerebral amygdale, at rest. Moreover, some neurospychiatric symptoms were accompanied by abnormal activations of these two brain areas. Therefore, the aim of the study was to identify a putative, resting-state intrinsically connected cerebello-amygdaloid network. Methods: ICA-based analysis was performed on brain resting-state functional images of 15 volunteers...
2018: Cerebellum & Ataxias
https://read.qxmd.com/read/29449954/metabotropic-glutamate-receptor-5-tracer-18-f-fpeb-displays-increased-binding-potential-in-postcentral-gyrus-and-cerebellum-of-male-individuals-with-autism-a-pilot-pet-study
#16
S Hossein Fatemi, Dean F Wong, James R Brašić, Hiroto Kuwabara, Anil Mathur, Timothy D Folsom, Suma Jacob, George M Realmuto, José V Pardo, Susanne Lee
Background: Autism is a neurodevelopmental disorder that is first manifested during early childhood. Postmortem experiments have identified significantly elevated expression of metabotropic glutamate receptor 5 (mGluR5) in cerebellar vermis and prefrontal cortex of individuals with autism. Methods: In the current study we employed the mGluR5 tracer [18 F]-3-fluoro-5-[(pyridin-3-yl)ethynyl]benzonitrile ([18 F]-FPEB) to quantify mGluR5 binding in vivo in adults with autism vs...
2018: Cerebellum & Ataxias
https://read.qxmd.com/read/29445510/a-neurologist-and-ataxia-using-eye-movements-to-learn-about-the-cerebellum
#17
REVIEW
David S Zee
The cerebellum, its normal functions and its diseases, and especially its relation to the control of eye movements, has been at the heart of my academic career. Here I review how this came about, with an emphasis on epiphanies, "tipping points" and the influences of mentors, colleagues and trainees. I set a path for young academicians, both clinicians and basic scientists, with some guidelines for developing a productive and rewarding career in neuroscience.
2018: Cerebellum & Ataxias
https://read.qxmd.com/read/29372062/inferior-olivary-nucleus-degeneration-does-not-lessen-tremor-in-essential-tremor
#18
Elan D Louis, Daniel Trujillo Diaz, Sheng-Han Kuo, Shi-Rui Gan, Etty P Cortes, Jean Paul G Vonsattel, Phyllis L Faust
Background: In traditional models of essential tremor, the inferior olivary nucleus was posited to play a central role as the pacemaker for the tremor. However, recent data call this disease model into question. Case presentation: Our patient had progressive, long-standing, familial essential tremor. Upper limb tremor began at age 10 and worsened over time. It continued to worsen during the nine-year period he was enrolled in our brain donation program (age 85 - 94 years), during which time the tremor moved from the moderate to severe range on examination...
2018: Cerebellum & Ataxias
https://read.qxmd.com/read/29299332/special-issue-new-horizons-in-cerebellar-research
#19
EDITORIAL
Adriana B Conforto, Dennis J L G Schutter
No abstract text is available yet for this article.
2017: Cerebellum & Ataxias
https://read.qxmd.com/read/29299331/cerebellar-ataxia-with-sensory-ganglionopathy-does-autoimmunity-have-a-role-to-play
#20
Panagiotis Zis, Ptolemaios Georgios Sarrigiannis, Dasappaiah Ganesh Rao, Nigel Hoggard, David Surendran Sanders, Marios Hadjivassiliou
Background and purpose: Cerebellar ataxia with sensory ganglionopathy (SG) is a disabling combination of neurological dysfunction usually seen as part of some hereditary ataxias. However, patients may present with this combination without a genetic cause. Methods: We reviewed records of all patients that have been referred to the Sheffield Ataxia Centre who had neurophysiological and imaging data suggestive of SG and cerebellar ataxia respectively. We excluded patients with Friedreich's ataxia, a common cause of this combination...
2017: Cerebellum & Ataxias
journal
journal
52239
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"