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221 papers 100 to 500 followers
José L Pedroso, Pedro Braga-Neto, André C Felício, Camila C H Aquino, Lucila B Fernandes do Prado, Gilmar Fernandes do Prado, Orlando G P Barsottini
Cerebellar ataxias comprise a wide range of etiologies leading to central nervous system-related motor and non-motor symptoms. Recently, a large body of evidence has demonstrated a high frequency of non-motor manifestations in cerebellar ataxias, specially in autosomal dominant spinocerebellar ataxias (SCA). Among these non-motor dysfunctions, sleep disorders have been recognized, although still under or even misdiagnosed. In this review, we highlight the main sleep disorders related to cerebellar ataxias focusing on REM sleep behavior disorder (RBD), restless legs syndrome (RLS), periodic limb movement in sleep (PLMS), excessive daytime sleepiness (EDS), insomnia and sleep apnea...
April 2011: Arquivos de Neuro-psiquiatria
K Bürk, S Bösch, C A Müller, A Melms, C Zühlke, M Stern, I Besenthal, M Skalej, P Ruck, S Ferber, T Klockgether, J Dichgans
A total of 104 patients with sporadic cerebellar ataxia were tested for antigliadin and antiendomysium antibodies. Twelve individuals (11.5%) with gluten sensitivity underwent duodenal biopsy and extensive clinical, electrophysiological, neuropsychological, radiological and laboratory investigations including human leucocyte antigen (HLA) typing. Two patients showed typical changes of gluten-sensitive enteropathy with crypt hyperplasia and mucosal flattening. In five patients, the intraepithelial lymphocyte count was elevated...
May 2001: Brain: a Journal of Neurology
Elsdon Storey
This review broadly covers the commoner genetic ataxias, concentrating on their clinical features. Over the last two decades there has been a potentially bewildering profusion of newly described genetic ataxias. However, at least half of dominant ataxias (SCAs) are caused by (CAG)n repeat expansions resulting in expanded polyglutamine tracts (SCAs 1, 2, 3, 6, 7, 17, and DRPLA), although of the remainder only SCAs 8, 10, 12, 14, 15/16, and 31 are frequent enough that the described phenotype is probably representative...
July 2014: Seminars in Neurology
Malcolm Proudfoot, Alastair Wilkins
Purpose of review The purpose of this review is to assess the evidence behind treatment regimens for cerebellar ataxias occurring in the context of systemic disease. We will address systemic conditions which are associated with specific involvement of the cerebellum (rather than widespread nervous system involvement) and those conditions for which some degree of evidence of treatment response exists. Recent findings We have divided systemic disorders affecting the cerebellum into systemic immunological disorders, endocrine and metabolic disorders and paraneoplastic...
November 25, 2017: Current Treatment Options in Neurology
Nicholas Zalewski, Vanda A Lennon, Sean J Pittock, Andrew Mckeon
INTRODUCTION: Neuronal calcium channel antibodies are a biomarker of Lambert-Eaton syndrome (LES) and cerebellar ataxia. We have encountered several patients with LES and cerebellar ataxia coexisting, and we sought to further define this association. METHODS: We reviewed records of patients at our institution with a diagnosis of "Lambert-Eaton syndrome" and "cerebellar ataxia." RESULTS: Seventeen patients were identified with LES and ataxia...
December 22, 2017: Muscle & Nerve
Masayoshi Tada, Masatoyo Nishizawa, Osamu Onodera
Recent advances in our understanding of neurophysiological functions in the cerebellar system have revealed that each region involved in degenerative ataxias contributes differently. To regulate voluntary movements, the cerebellum forms internal models within its neural circuits that mimic the behaviour of the sensorimotor system and objects in the external environment. The cerebellum forms two different internal models: forward and inverse. The forward model is formed by efference copy signals conveyed by the corticopontocerebellar system, and it derives the estimated consequences for action...
August 2015: Journal of Neurology, Neurosurgery, and Psychiatry
Bart P van de Warrenburg, Meyke I Schouten, Susanne T de Bot, Sascha Vermeer, Rowdy Meijer, Maartje Pennings, Christian Gilissen, Michèl Aap Willemsen, Hans Scheffer, Erik-Jan Kamsteeg
Cerebellar ataxia (CA) and hereditary spastic paraplegia (HSP) are two of the most prevalent motor disorders with extensive locus and allelic heterogeneity. We implemented clinical exome sequencing, followed by filtering data for a 'movement disorders' gene panel, as a generic test to increase variant detection in 76 patients with these disorders. Segregation analysis or phenotypic re-evaluation was utilized to substantiate findings. Disease-causing variants were identified in 9 of 28 CA patients, and 8 of 48 HSP patients...
October 2016: European Journal of Human Genetics: EJHG
M J Keogh, H Steele, K Douroudis, A Pyle, J Duff, R Hussain, T Smertenko, H Griffin, M Santibanez-Koref, R Horvath, P F Chinnery
Sporadic late onset cerebellar ataxia is a well-described clinical presentation with a broad differential diagnosis that adult neurologists should be familiar with. However, despite extensive clinical investigations, an acquired cause is identified in only a minority of cases. Thereafter, an underlying genetic basis is often considered, even in those without a family history. Here we apply whole exome sequencing to a cohort of 12 patients with late onset cerebellar ataxia. We show that 33% of 'idiopathic' cases harbor compound heterozygous mutations in known ataxia genes, including genes not included on multi-gene panels, or primarily associated with an ataxic presentation...
August 2015: Journal of Neurology
Shunsuke Koga, Keith A Josephs, Kotaro Ogaki, Catherine Labbé, Ryan J Uitti, Neill Graff-Radford, Jay A van Gerpen, William P Cheshire, Naoya Aoki, Rosa Rademakers, Zbigniew K Wszolek, Owen A Ross, Dennis W Dickson
BACKGROUND: Cerebellar ataxia is an exclusion criterion for the clinical diagnosis of progressive supranuclear palsy, but a variant with predominant cerebellar ataxia has been reported. The aims of this study were to estimate the frequency of progressive supranuclear palsy with predominant cerebellar ataxia in an autopsy series from the United States and to compare clinical, pathologic, and genetic differences between progressive supranuclear palsy with and without predominant cerebellar ataxia...
May 2016: Movement Disorders: Official Journal of the Movement Disorder Society
Hiroshi Mitoma, Keya Adhikari, Daniel Aeschlimann, Partha Chattopadhyay, Marios Hadjivassiliou, Christiane S Hampe, Jérôme Honnorat, Bastien Joubert, Shinji Kakei, Jongho Lee, Mario Manto, Akiko Matsunaga, Hidehiro Mizusawa, Kazunori Nanri, Priya Shanmugarajah, Makoto Yoneda, Nobuhiro Yuki
In the last few years, a lot of publications suggested that disabling cerebellar ataxias may develop through immune-mediated mechanisms. In this consensus paper, we discuss the clinical features of the main described immune-mediated cerebellar ataxias and address their presumed pathogenesis. Immune-mediated cerebellar ataxias include cerebellar ataxia associated with anti-GAD antibodies, the cerebellar type of Hashimoto's encephalopathy, primary autoimmune cerebellar ataxia, gluten ataxia, Miller Fisher syndrome, ataxia associated with systemic lupus erythematosus, and paraneoplastic cerebellar degeneration...
April 2016: Cerebellum
Yasuo Terao, Hideki Fukuda, Shinnichi Tokushige, Satomi Inomata-Terada, Akihiro Yugeta, Masashi Hamada, Yaeko Ichikawa, Ritsuko Hanajima, Yoshikazu Ugawa
OBJECTIVE: Patients with multiple system atrophy (MSA) are classified into those mainly manifesting cerebellar ataxia (MSA-C) and those mainly manifesting parkinsonism (MSA-P). Pathophysiological bases of these subtypes remain unclear. We hypothesized that MSA-C patients would resemble spinocerebellar degeneration patients and MSA-P patients would resemble Parkinson's disease (PD) patients in saccade abnormalities. METHODS: We recorded visually guided and memory guided saccades (MGS) in 27 MSA-C and 15 MSA-P patients, as well as 50 age-matched normal subjects, 14 spinocerebellar degeneration patients showing pure cerebellar symptoms (SCD) and 61 Parkinson's disease (PD) patients...
February 2016: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
D J Szmulewicz, J A Waterston, G M Halmagyi, S Mossman, A M Chancellor, C A McLean, E Storey
OBJECTIVE: The syndrome of cerebellar ataxia with bilateral vestibulopathy was delineated in 2004. Sensory neuropathy was mentioned in 3 of the 4 patients described. We aimed to characterize and estimate the frequency of neuropathy in this condition, and determine its typical MRI features. METHODS: Retrospective review of 18 subjects (including 4 from the original description) who met the criteria for bilateral vestibulopathy with cerebellar ataxia. RESULTS: The reported age at onset range was 39-71 years, and symptom duration was 3-38 years...
May 31, 2011: Neurology
Pamela Federighi, Gabriele Cevenini, Maria T Dotti, Francesca Rosini, Elena Pretegiani, Antonio Federico, Alessandra Rufa
The cerebellum is implicated in maintaining the saccadic subsystem efficient for vision by minimizing movement inaccuracy and by learning from endpoint errors. This ability is often disrupted in degenerative cerebellar diseases, as demonstrated by saccade kinetic abnormalities. The study of saccades in these patients may therefore provide insights into the neural substrate underlying saccadic motor control. We investigated the different extent of saccade dynamic abnormalities in spinocerebellar ataxia type 2 and late-onset cerebellar ataxias, genetically undefined and with prevalent cerebellar atrophy...
March 2011: Brain: a Journal of Neurology
M Hadjivassiliou, J Martindale, P Shanmugarajah, R A Grünewald, P G Sarrigiannis, N Beauchamp, K Garrard, R Warburton, D S Sanders, D Friend, S Duty, J Taylor, N Hoggard
BACKGROUND: Cerebellar ataxias are the result of diverse disease processes that can be genetic or acquired. Establishing a diagnosis requires a methodical approach with expert clinical evaluation and investigations. We describe the causes of ataxia in 1500 patients with cerebellar ataxia. METHODS: All patients were referred to the Sheffield Ataxia Centre, UK, and underwent extensive investigations, including, where appropriate genetic testing using next-generation sequencing (NGS)...
April 2017: Journal of Neurology, Neurosurgery, and Psychiatry
Ronald C Petersen, Oscar Lopez, Melissa J Armstrong, Thomas S D Getchius, Mary Ganguli, David Gloss, Gary S Gronseth, Daniel Marson, Tamara Pringsheim, Gregory S Day, Mark Sager, James Stevens, Alexander Rae-Grant
OBJECTIVE: To update the 2001 American Academy of Neurology (AAN) guideline on mild cognitive impairment (MCI). METHODS: The guideline panel systematically reviewed MCI prevalence, prognosis, and treatment articles according to AAN evidence classification criteria, and based recommendations on evidence and modified Delphi consensus. RESULTS: MCI prevalence was 6.7% for ages 60-64, 8.4% for 65-69, 10.1% for 70-74, 14.8% for 75-79, and 25.2% for 80-84...
January 16, 2018: Neurology
Melanie D Sweeney, Abhay P Sagare, Berislav V Zlokovic
The blood-brain barrier (BBB) is a continuous endothelial membrane within brain microvessels that has sealed cell-to-cell contacts and is sheathed by mural vascular cells and perivascular astrocyte end-feet. The BBB protects neurons from factors present in the systemic circulation and maintains the highly regulated CNS internal milieu, which is required for proper synaptic and neuronal functioning. BBB disruption allows influx into the brain of neurotoxic blood-derived debris, cells and microbial pathogens and is associated with inflammatory and immune responses, which can initiate multiple pathways of neurodegeneration...
January 29, 2018: Nature Reviews. Neurology
Paul Moayyedi, Maxine A Lewis
Proton pump inhibitors (PPIs) are effective and suppressing acid, and therefore have efficacy against gastric acid-related disorders. The long-term safety of PPIs is less clear and there have been a number of studies raising concerns regarding risk of pneumonia, fracture, Clostridium difficile, chronic renal failure, and dementia. This latter concern is addressed by a study in this issue of AJG using health care registry data and found there was no association between PPI use and Alzheimer's dementia. Furthermore, there was no increased risk of dementia with long-term use of PPIs or higher doses of PPIs...
December 2017: American Journal of Gastroenterology
Benjamin D Boros, Kelsey M Greathouse, Erik G Gentry, Kendall A Curtis, Elizabeth L Birchall, Marla Gearing, Jeremy H Herskowitz
OBJECTIVE: Neuroimaging and other biomarker assays suggest that the pathological processes of Alzheimer's disease (AD) begin years prior to clinical dementia onset. However, some 30 to 50% of older individuals who harbor AD pathology do not become symptomatic in their lifetime. It is hypothesized that such individuals exhibit cognitive resilience that protects against AD dementia. We hypothesized that in cases with AD pathology, structural changes in dendritic spines would distinguish individuals who had or did not have clinical dementia...
October 2017: Annals of Neurology
Prashanthi Vemuri, Timothy G Lesnick, Scott A Przybelski, David S Knopman, Val J Lowe, Jonathan Graff-Radford, Rosebud O Roberts, Michelle M Mielke, Mary M Machulda, Ronald C Petersen, Clifford R Jack
OBJECTIVE: To investigate the associations between age, vascular health, and Alzheimer disease (AD) imaging biomarkers in an elderly sample. METHODS: We identified 430 individuals along the cognitive continuum aged >60 years with amyloid positron emission tomography (PET), tau PET, and magnetic resonance imaging (MRI) scans from the population-based Mayo Clinic Study of Aging. A subset of 329 individuals had fluorodeoxyglucose (FDG) PET. We ascertained presently existing cardiovascular and metabolic conditions (CMC) from health care records and used the summation of presence/absence of hypertension, hyperlipidemia, cardiac arrhythmias, coronary artery disease, congestive heart failure, diabetes mellitus, and stroke as a surrogate for vascular health...
November 2017: Annals of Neurology
Yasser Iturria-Medina, Vladimir Hachinski, Alan C Evans
PURPOSE OF REVIEW: This article provides a brief overview of relevant cerebrovascular mechanisms implicated in late-onset Alzheimer's disease (LOAD) development, and highlights the main reasons for incorporating novel cerebrovascular biomarkers to the models defining a multifactorial LOAD pathogenesis. We also discuss how novel brain mapping techniques and multifactorial data-driven models are having a critical role on understanding LOAD and may be particularly useful for identifying effective therapeutic agents for this disorder...
December 2017: Current Opinion in Neurology
2018-01-21 02:50:20
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