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Cerebellum & Ataxias

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https://www.readbyqxmd.com/read/29214039/clinical-and-genetic-analysis-of-spinocerebellar-ataxia-type-7-sca7-in-zambian-families
#1
Masharip Atadzhanov, Danielle C Smith, Mwila H Mwaba, Omar K Siddiqi, Alan Bryer, L Jacquie Greenberg
Background: To date, 43 types of Spinocerebellar Ataxias (SCAs) have been identified. A subset of the SCAs are caused by the pathogenic expansion of a CAG repeat tract within the corresponding gene. Ethnic and geographic differences are evident in the prevalence of the autosomal dominant SCAs. Few descriptions of the clinical phenotype and molecular genetics of the SCAs are available from the African continent. Established studies mostly concern the South African populations, where there is a high frequency of SCA1, SCA2 and SCA7...
2017: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/28944066/immune-mediated-cerebellar-ataxias-from-bench-to-bedside
#2
REVIEW
Hiroshi Mitoma, Mario Manto, Christiane S Hampe
The cerebellum is a vulnerable target of autoimmunity in the CNS. The category of immune-mediated cerebellar ataxias (IMCAs) was recently established, and includes in particular paraneoplastic cerebellar degenerations (PCDs), gluten ataxia (GA) and anti-GAD65 antibody (Ab) associated-CA, all characterized by the presence of autoantibodies. The significance of onconeuronal autoantibodies remains uncertain in some cases. The pathogenic role of anti-GAD65Ab has been established both in vitro and in vivo, but a consensus has not been reached yet...
2017: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/28932407/effects-of-transcranial-direct-current-stimulation-on-grip-force-control-in-patients-with-cerebellar-degeneration
#3
Liane John, Michael Küper, Thomas Hulst, Dagmar Timmann, Joachim Hermsdörfer
BACKGROUND: The control of grip forces when moving a hand held object is impaired in patients with cerebellar degeneration. We asked the question whether after-effects of anodal transcranial direct current stimulation (tDCS) applied to the lateral cerebellum or M1 improved grip force control in cerebellar patients. METHODS: Grip force control while holding an object during cyclic arm movements was assessed in patients with pure cerebellar degeneration (n = 14, mean age 50...
2017: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/28919980/hemicerebellitis-can-drive-handedness-shift
#4
Mario Mascalchi, Matteo Lenge, Andrea Bianchi, Emanuele Bartolini, Gioele Gavazzi, Flavio Giordano, Renzo Guerrini
BACKGROUND: Hemicerebellitisis a rare acquired condition, typical of the pediatric age. A residual switched handedness may develop after remission of acute cerebellar symptoms. CASE PRESENTATION: Herein we describe a motor functional MRI studyperformed in a 35-year old girl who had switched to left-handedness after acute right hemicerebellitis in childhood. During left hand tapping, we observed activation in the right primary sensori-motor cortex, right supplementary motor area and left superior cerebellum...
2017: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/28748095/the-origin-of-mathematics-and-number-sense-in-the-cerebellum-with-implications-for-finger-counting-and-dyscalculia
#5
Larry Vandervert
BACKGROUND: Mathematicians and scientists have struggled to adequately describe the ultimate foundations of mathematics. Nobel laureates Albert Einstein and Eugene Wigner were perplexed by this issue, with Wigner concluding that the workability of mathematics in the real world is a mystery we cannot explain. In response to this classic enigma, the major purpose of this article is to provide a theoretical model of the ultimate origin of mathematics and "number sense" (as defined by S. Dehaene) that is proposed to involve the learning of inverse dynamics models through the collaboration of the cerebellum and the cerebral cortex (but prominently cerebellum-driven)...
2017: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/28680652/validity-and-reliability-of-a-pilot-scale-for-assessment-of-multiple-system-atrophy-symptoms
#6
Masaaki Matsushima, Ichiro Yabe, Ikuko Takahashi, Makoto Hirotani, Takahiro Kano, Kazuhiro Horiuchi, Hideki Houzen, Hidenao Sasaki
BACKGROUND: Multiple system atrophy (MSA) is a rare progressive neurodegenerative disorder for which brief yet sensitive scale is required in order for use in clinical trials and general screening. We previously compared several scales for the assessment of MSA symptoms and devised an eight-item pilot scale with large standardized response mean [handwriting, finger taps, transfers, standing with feet together, turning trunk, turning 360°, gait, body sway]. The aim of the present study is to investigate the validity and reliability of a simple pilot scale for assessment of multiple system atrophy symptoms...
2017: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/28680651/gray-matter-density-loss-in-essential-tremor-a-lobule-by-lobule-analysis-of-the-cerebellum
#7
Jonathan P Dyke, Eric Cameron, Nora Hernandez, Ulrike Dydak, Elan D Louis
BACKGROUND: The pathophysiological basis for essential tremor (ET) remains unclear, although evidence increasingly links it to a disordered and perhaps degenerative cerebellum. Prior imaging studies have treated the cerebellum en bloc. Our hypothesis was that regional differences in cerebellar gray matter (GM) density may better distinguish ET cases from controls. Forty-seven ET cases and 36 control subjects were imaged using magnetic resonance imaging (MRI). The cerebellum was segmented into 34 lobes using a Spatially Unbiased Infra-Tentorial Template (SUIT) atlas within the Statistical Parametric Mapping (SPM) analysis package...
2017: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/28680650/stratification-of-disease-progression-in-a-broad-spectrum-of-degenerative-cerebellar-ataxias-with-a-clustering-method-using-mri-based-atrophy-rates-of-brain-structures
#8
Rie Sasaki, Futaba Maki, Daisuke Hara, Shigeaki Tanaka, Yasuhiro Hasegawa
BACKGROUND: The rate of disease progression differs among patients with degenerative cerebellar ataxia. The uncertain natural course in individual patients hinders clinical trials of promising treatments. In this study, we analyzed atrophy changes in brain structures with cluster analysis to find sub-groups of patients with homogenous symptom progression in a broad spectrum of degenerative cerebellar ataxias. METHODS: We examined 48 patients including 21 cases of spinocerebellar ataxia (SCA), 17 cases of the cerebellar type of multiple system atrophy (MSA-C), and 10 cases of cortical cerebellar ataxia (CCA)...
2017: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/28652923/jc-virus-granule-cell-neuronopathy-onset-two-months-after-chemotherapy-for-low-grade-lymphoma
#9
Kathryn B Holroyd, Elias S Sotirchos, Scott R DeBoer, Kelly A Mills, Scott D Newsome
BACKGROUND: Granule cell neuronopathy (GCN) is a rare disease caused by the JC virus, leading to degeneration of cerebellar granule cell neurons. Primarily described in patients with AIDS, it has also been diagnosed in patients with lymphoproliferative diseases and after long-term treatment with immune-suppressing medications such as natalizumab. CASE PRESENTATION: A 69 year old woman presented with progressive ataxia which began 2 months after initiation of treatment for follicular low-grade B cell lymphoma with rituximab/bendamustine, and progressed for 2 years prior to admission...
2017: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/28593048/neural-correlates-of-ataxia-severity-in-spinocerebellar-ataxia-type-3-machado-joseph-disease
#10
Carlos R Hernandez-Castillo, Rosalinda Diaz, Aurelio Campos-Romo, Juan Fernandez-Ruiz
BACKGROUND: Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is an autosomal dominant inherited neurodegenerative disorder. Several post-mortem and imaging studies have shown cerebellar and brainstem atrophy. A number of studies have used volumetric regional information to investigate the relationship between neurodegeneration and the ataxia severity. However, regional analysis can obscure the specific location in which the degenerative process is affecting the brain tissue, which can be crucial for the development of new target treatments for this disease...
2017: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/28515949/cerebellum-an-explanation-for-dystonia
#11
REVIEW
Matteo Bologna, Alfredo Berardelli
Dystonia is a movement disorder that is characterized by involuntary muscle contractions, abnormal movements and postures, as well as by non-motor symptoms, and is due to abnormalities in different brain areas. In this article, we focus on the growing number of experimental studies aimed at explaining the pathophysiological role of the cerebellum in dystonia. Lastly, we highlight gaps in current knowledge and issues that future research studies should focus on as well as some of the potential applications of this research avenue...
2017: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/28439420/an-unusual-cause-of-fatal-rapid-onset-ataxia-plus-syndrome
#12
Ivan Kmezic, Jan Weinberg, Dan Hauzenberger, Farouk Hashim, Evangelia Kollia, Monika Klimkowska, Inger Nennesmo, Martin Paucar
BACKGROUND: Progressive multifocal leukoencephalopathy (PML) is a demyelinating disorder of the central nervous system caused by reactivation of the JC-virus and is in most cases associated with underlying immunosuppression. Acquired immune deficiency syndrome (AIDS) and hematological malignancies are well-known predisposing factors for PML. However, in the past ten years, various pharmacological agents have been associated with increased risk of PML. Based on the phenomenology PML can be divided into the cerebral form and the rare cerebellar form...
2017: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/28405347/friedreich-ataxia-current-status-and-future-prospects
#13
REVIEW
Katrin Bürk
Friedreich ataxia (FA) represents the most frequent type of inherited ataxia. Most patients carry homozygous GAA expansions in the first intron of the frataxin gene on chromosome 9. Due to epigenetic alterations, frataxin expression is significantly reduced. Frataxin is a mitochondrial protein. Its deficiency leads to mitochondrial iron overload, defective energy supply and generation of reactive oxygen species. This review gives an overview over clinical and genetic aspects of FA and discusses current concepts of frataxin biogenesis and function as well as new therapeutic strategies...
2017: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/28250961/systematic-review-of-autosomal-recessive-ataxias-and-proposal-for-a-classification
#14
REVIEW
Marie Beaudin, Christopher J Klein, Guy A Rouleau, Nicolas Dupré
BACKGROUND: The classification of autosomal recessive ataxias represents a significant challenge because of high genetic heterogeneity and complex phenotypes. We conducted a comprehensive systematic review of the literature to examine all recessive ataxias in order to propose a new classification and properly circumscribe this field as new technologies are emerging for comprehensive targeted gene testing. METHODS: We searched Pubmed and Embase to identify original articles on recessive forms of ataxia in humans for which a causative gene had been identified...
2017: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/28074148/apraxia-of-speech-and-cerebellar-mutism-syndrome-a-case-report
#15
E De Witte, I Wilssens, D De Surgeloose, G Dua, M Moens, J Verhoeven, M Manto, P Mariën
BACKGROUND: Cerebellar mutism syndrome (CMS) or posterior fossa syndrome (PFS) consists of a constellation of neuropsychiatric, neuropsychological and neurogenic speech and language deficits. It is most commonly observed in children after posterior fossa tumor surgery. The most prominent feature of CMS is mutism, which generally starts after a few days after the operation, has a limited duration and is typically followed by motor speech deficits. However, the core speech disorder subserving CMS is still unclear...
2017: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/28074147/cerebellar-ataxia-and-sensory-ganglionopathy-associated-with-light-chain-myeloma
#16
Panagiotis Zis, Dasappaiah Ganesh Rao, Bart E Wagner, Lucinda Nicholson-Goult, Nigel Hoggard, Marios Hadjivassiliou
BACKGROUND: Cerebellar ataxia with sensory ganglionopathy is a rare neurological combination that can occur in some hereditary ataxias including mitochondrial diseases and in gluten sensitivity. Individually each condition can be a classic paraneoplastic neurological syndrome. We report a patient with this combination who was diagnosed with light-chain myeloma ten years after initial presentation. CASE PRESENTATION: A 65-year-old Caucasian lady was referred to our Ataxia Clinic because of a 6-year history of progressive unsteadiness and a 2-year history of slurred speech...
2017: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/27895927/expansion-mosaicism-and-interruption-mechanisms-of-the-cag-repeat-mutation-in-spinocerebellar-ataxia-type-1
#17
REVIEW
Cara Kraus-Perrotta, Sarita Lagalwar
Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disorder that primarily affects the cerebellum and brainstem. The genetic mutation is an expansion of CAG trinucleotide repeats within the coding region of the ataxin-1 gene, characterizing SCA1 as a polyglutamine expansion disease like Huntington's. As with most polyglutamine expansion diseases, SCA1 follows the rules of genetic anticipation: the larger the expansion, the earlier and more rapid the symptoms. Unlike the majority of polyglutamine expansion diseases, the presence of histidine interruptions within the polyglutamine tract of ataxin-1 protein can prevent or mitigate disease...
2016: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/27895926/non-invasive-brain-stimulation-as-a-tool-to-study-cerebellar-m1-interactions-in-humans
#18
REVIEW
Sara Tremblay, Duncan Austin, Ricci Hannah, John C Rothwell
The recent development of non-invasive brain stimulation techniques such as transcranial magnetic stimulation (TMS) has allowed the non-invasive assessment of cerebellar function in humans. Early studies showed that cerebellar activity, as reflected in the excitability of the dentate-thalamo-cortical pathway, can be assessed with paired stimulation of the cerebellum and the primary motor cortex (M1) (cerebellar inhibition of motor cortex, CBI). Following this, many attempts have been made, using techniques such as repetitive TMS and transcranial electrical stimulation (TES), to modulate the activity of the cerebellum and the dentate-thalamo-cortical output, and measure their impact on M1 activity...
2016: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/27777786/progressive-cerebellar-degeneration-revealing-primary-sj%C3%A3-gren-syndrome-a-case-report
#19
Emna Farhat, Mourad Zouari, Ines Ben Abdelaziz, Cyrine Drissi, Rahma Beyrouti, Mohamed Ben Hammouda, Fayçal Hentati
BACKGROUND: Cerebellar ataxia represents a rare and severe complication of Sjӧgren syndrome (SS), especially with a progressive onset and cerebellar atrophy on imaging. CASE PRESENTATION: We report the case of a 30-year-old woman, with a past history of dry eyes and mouth, who presented a severe cerebellar ataxia worsening over 4 years associated with tremor of the limbs and the head. Brain MRI showed bilateral hyperintensities on T2 and FLAIR sequences, affecting periventricular white matter, with marked cerebellar atrophy...
2016: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/27729985/alcohol-related-cerebellar-degeneration-not-all-down-to-toxicity
#20
Priya D Shanmugarajah, Nigel Hoggard, Stuart Currie, Daniel P Aeschlimann, Pascale C Aeschlimann, Dermot C Gleeson, Mohammed Karajeh, Nicola Woodroofe, Richard A Grünewald, Marios Hadjivassiliou
BACKGROUND: Alcohol-related cerebellar degeneration is one of the commonest acquired forms of cerebellar ataxia. The exact pathogenic mechanisms by which alcohol leads to cerebellar damage remain unknown. Possible autoreactive immune mediated mechanisms have not been explored previously. In this study, we aim to investigate the potential role of alcohol-induced immune mediated cerebellar degeneration. METHODS: Patients with ataxia and a history of alcohol misuse were recruited from the Ataxia and Hepatology tertiary clinics at Sheffield Teaching Hospitals NHS Trust...
2016: Cerebellum & Ataxias
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