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Cerebellum

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https://www.readbyqxmd.com/read/28432641/dentatorubro-pallidoluysian-atrophy-drpla-among-700-families-with-ataxia-in-brazil
#1
Pedro Braga-Neto, José Luiz Pedroso, Gabriel Vasata Furtado, Tailise Conte Gheno, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim, Orlando G P Barsottini
Dentatorubro-pallidoluysian atrophy (DRPLA) is a spinocerebellar ataxia (SCA) very rare in non-Asian populations. To date, DRPLA was undetected in the general Brazilian population. Adult-onset ataxic patients have been recruited from several Brazilian neurology and neurogenetics centers. CAG lengths at SCA1, SCA2, SCA3/MJD, SCA6, SCA7, SCA12, SCA17 and DRPLA associated genes, and ATTCT expansions at SCA10 gene were studied. A single DRPLA case detected is reported. Proband was a 69-year-old Brazilian woman of mixed ancestry, with a late-onset pure ataxia: her alleles at the associated gene, ATN1, presented 14/52 CAG repeats...
April 21, 2017: Cerebellum
https://www.readbyqxmd.com/read/28421552/gap-junction-modulation-of-low-frequency-oscillations-in-the-cerebellar-granule-cell-layer
#2
Jennifer Claire Robinson, C Andrew Chapman, Richard Courtemanche
Local field potential (LFP) oscillations in the granule cell layer (GCL) of the cerebellar cortex have been identified previously in the awake rat and monkey during immobility. These low-frequency oscillations are thought to be generated through local circuit interactions between Golgi cells and granule cells within the GCL. Golgi cells display rhythmic firing and pacemaking properties, and also are electrically coupled through gap junctions within the GCL. Here, we tested if gap junctions in the rat cerebellar cortex contribute to the generation of LFP oscillations in the GCL...
April 18, 2017: Cerebellum
https://www.readbyqxmd.com/read/28401494/a-comparative-optical-coherence-tomography-study-of-spinocerebellar-ataxia-types-3-and-10
#3
Fernando Spina Tensini, Mario T Sato, Naoye Shiokawa, Tetsuo Ashizawa, Hélio A G Teive
SCA3 presents with a CAG expansion at 14q24.3-q32 while SCA10 shows an ATTCT expansion at 22q13-qter. SCA10 seems to be less aggressive than SCA3. For an in vivo, noninvasive approach of the correlation between central nervous system and clinical evolution, we can use optic coherence tomography (OCT) to measure retinal nerve fiber (RNFL) and ganglion cell layer (GCL) thickness. To describe OCT findings in SCA10, correlate it with expansion size and disease severity and compare with those of SCA3. We analyzed ten individuals with SCA3 and nine with SCA10 recruited from the neurology service of Hospital de Clínicas of Paraná-Brazil...
April 11, 2017: Cerebellum
https://www.readbyqxmd.com/read/28386793/spinal-cord-damage-in-spinocerebellar-ataxia-type-1
#4
Carlos Roberto Martins, Alberto Rolim Muro Martinez, Thiago Junqueira Ribeiro de Rezende, Lucas Melo Teixeira Branco, José Luiz Pedroso, Orlando G P Barsottini, Iscia Lopes-Cendes, Marcondes C França
Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant disorder caused by a CAG repeat expansion, characterized by progressive cerebellar ataxia and pyramidal signs. Non-motor and extracerebellar symptoms may occur. MRI-based studies in SCA1 focused in the cerebellum and connections, but there are no data about cord damage in the disease and its clinical relevance. To evaluate in vivo spinal cord damage in SCA1, a group of 31 patients with SCA1 and 31 age- and gender-matched healthy controls underwent MRI on a 3T scanner...
April 6, 2017: Cerebellum
https://www.readbyqxmd.com/read/28364185/cerebellar-pathology-in-familial-vs-sporadic-essential-tremor
#5
Elan D Louis, Sheng-Han Kuo, Jie Wang, William J Tate, Ming-Kai Pan, Geoffrey C Kelly, Jesus Gutierrez, Etty P Cortes, Jean-Paul G Vonsattel, Phyllis L Faust
Familial and sporadic essential tremor (ET) cases differ in several respects. Whether they differ with respect to cerebellar pathologic changes has yet to be studied. We quantified a broad range of postmortem features (Purkinje cell (PC) counts, PC axonal torpedoes, a host of associated axonal changes, heterotopic PCs, and hairy basket ratings) in 60 ET cases and 30 controls. Familial ET was defined using both liberal criteria (n = 27) and conservative criteria (n = 20). When compared with controls, ET cases had lower PC counts, more torpedoes, more heterotopic PCs, a higher hairy basket rating, an increase in PC axonal collaterals, an increase in PC thickened axonal profiles, and an increase in PC axonal branching...
March 31, 2017: Cerebellum
https://www.readbyqxmd.com/read/28337694/the-posterior-fossa-and-foreign-accent-syndrome-report-of-two-new-cases-and-review-of-the-literature
#6
Stefanie Keulen, Peter Mariën, Kim van Dun, Roelien Bastiaanse, Mario Manto, Jo Verhoeven
Foreign accent syndrome is a rare motor speech disorder that causes patients to speak their language with a non-native accent. In the neurogenic condition, the disorder develops after lesions in the language dominant hemisphere, often affecting Broca's area, the insula, the supplementary motor area and the primary motor cortex. Here, we present two new cases of FAS after posterior fossa lesions. The first case is a 44-year-old, right-handed, Dutch-speaking man who suffered motor speech disturbances and a left hemiplegia after a pontine infarction...
March 23, 2017: Cerebellum
https://www.readbyqxmd.com/read/28321713/low-titre-gad-antibody-associated-late-onset-cerebellar-ataxia-with-a-significant-clinical-response-to-intravenous-immunoglobulin-treatment
#7
Timotej Petrijan, Marija Menih
Antiglutamic acid decarboxylase antibody-associated cerebellar ataxia (GAD-Abs CA) is a rare, but increasingly detected, autoimmune neurological disorder characterized by the clinical presence of a cerebellar syndrome concomitant with positive GAD-Abs levels in serum and cerebrospinal fluid (CSF). It represents 3% of all immune-mediated sporadic CAs. Low-titre GAD-Abs CA is an even rarer subtype of GAD-Abs CA. We report on a 68-year-old woman with a 3-year history of progressive gait ataxia. In addition to the modified Rankin Scale (mRS), we used two other objective scales to evaluate CA severity, i...
March 20, 2017: Cerebellum
https://www.readbyqxmd.com/read/28303385/after-effects-of-cerebellar-continuous-theta-burst-stimulation-on-reflexive-saccades-and-smooth-pursuit-in-humans
#8
Silvia Colnaghi, P Colagiorgio, S Ramat, E D'Angelo, G Koch, M Versino
The use of cerebellar repetitive transcranial magnetic stimulation has been attempted for perturbing reflexive and voluntary eye movements, but discrepancies are seen between the results of distinct studies possibly due to the different stimulation sites, intensities, and paradigms. We describe the after effects of 20 and 40 s continuous Theta Burst Stimulation (cTBS) as compared to sham stimulation, applied over the lateral cerebellar vermis and paravermis on Reflexive Saccades (RS) and Smooth Pursuit (SP) eye movements, recorded in the 30 min following stimulation...
March 16, 2017: Cerebellum
https://www.readbyqxmd.com/read/28229372/measuring-inhibition-and-cognitive-flexibility-in-friedreich-ataxia
#9
Louise A Corben, Felicity Klopper, Monique Stagnitti, Nellie Georgiou-Karistianis, John L Bradshaw, Gary Rance, Martin B Delatycki
Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder with subtle impact on cognition. Inhibitory processes and cognitive flexibility were examined in FRDA by assessing the ability to suppress a predictable verbal response. We administered the Hayling Sentence Completion Test (HSCT), the Trail Making Test, and the Stroop Test to 43 individuals with FRDA and 42 gender- and age-matched control participants. There were no significant group differences in performance on the Stroop or Trail Making Test whereas significant impairment in cognitive flexibility including the ability to predict and inhibit a pre-potent response as measured in the HSCT was evident in individuals with FRDA...
February 22, 2017: Cerebellum
https://www.readbyqxmd.com/read/28224454/effects-of-sustained-otolith-only-stimulation-on-post-rotational-nystagmus
#10
Aasef G Shaikh, David Solomon
Constant velocity rotations in darkness evoke vestibulo-ocular reflex in form of pre- and post-rotational nystagmus under cerebellar supervision. Reorientation of the head with respect to gravity, stimulating otolith and semicircular canal, during post-rotational phase rapidly suppresses the post-rotational nystagmus. We asked if pure otolith stimulation without semicircular canal signal is sufficient for the suppression of post-rotational nystagmus. The experimental paradigm comprised of on-axis rotations in the horizontal plane when the subject was sitting upright, followed by a novel stimulus that combined off-axis centrifugation in the horizontal plane with amplitude matched, yet out-of-phase, on-axis horizontal rotation-double centrifugation...
February 21, 2017: Cerebellum
https://www.readbyqxmd.com/read/28215041/the-known-and-missing-links-between-the-cerebellum-basal-ganglia-and-cerebral-cortex
#11
LETTER
Alberto Cacciola, Demetrio Milardi, Paolo Livrea, Paolo Flace, Giuseppe Anastasi, Angelo Quartarone
No abstract text is available yet for this article.
February 18, 2017: Cerebellum
https://www.readbyqxmd.com/read/28155138/cerebellar-neural-circuits-involving-executive-control-network-predict-response-to-group-cognitive-behavior-therapy-in-social-anxiety-disorder
#12
MinlanYuan, Yajing Meng, Yan Zhang, Xiaojing Nie, Zhengjia Ren, Hongru Zhu, Yuchen Li, Su Lui, Qiyong Gong, Changjian Qiu, Wei Zhang
Some intrinsic connectivity networks including the default mode network (DMN) and executive control network (ECN) may underlie social anxiety disorder (SAD). Although the cerebellum has been implicated in the pathophysiology of SAD and several networks relevant to higher-order cognition, it remains unknown whether cerebellar areas involved in DMN and ECN exhibit altered resting-state functional connectivity (rsFC) with cortical networks in SAD. Forty-six patients with SAD and 64 healthy controls (HC) were included and submitted to the baseline resting-state functional magnetic resonance imaging (fMRI)...
February 2, 2017: Cerebellum
https://www.readbyqxmd.com/read/28150130/three-year-follow-up-of-high-dose-ubiquinol-supplementation-in-a-case-of-familial-multiple-system-atrophy-with-compound-heterozygous-coq2-mutations
#13
Jun Mitsui, Ken Koguchi, Toshimitsu Momose, Miwako Takahashi, Takashi Matsukawa, Tsutomu Yasuda, Shin-Ichi Tokushige, Hiroyuki Ishiura, Jun Goto, Shigeaki Nakazaki, Tomoyoshi Kondo, Hidefumi Ito, Yorihiro Yamamoto, Shoji Tsuji
We report a 3-year follow-up of high-dose ubiquinol supplementation in a case of familial multiple system atrophy (MSA) with compound heterozygous nonsense (R387X) and missense (V393A) mutations in COQ2. A high-dose ubiquinol supplementation substantially increased total coenzyme Q10 levels in cerebrospinal fluid as well as in plasma. The patient was at the advanced stage of MSA, and the various scores of clinical rating scales remained stable without changes during the 3 years. The cerebral metabolic ratio of oxygen measured by (15)O2 PET, however, increased by approximately 30% after administration of ubiquinol, suggesting that ubiquinol can improve mitochondrial oxidative metabolism in the brain...
February 1, 2017: Cerebellum
https://www.readbyqxmd.com/read/28127679/motion-illusion-evidence-towards-human-vestibulo-thalamic-projections
#14
Aasef G Shaikh, Dominik Straumann, Antonella Palla
Contemporary studies speculated that cerebellar network responsible for motion perception projects to the cerebral cortex via vestibulo-thalamus. Here, we sought for the physiological properties of vestibulo-thalamic pathway responsible for the motion perception. Healthy subjects and the patient with focal vestibulo-thalamic lacunar stroke spun a hand-held rheostat to approximate the value of perceived angular velocity during whole-body passive earth-vertical axis rotations in yaw plane. Vestibulo-ocular reflex was simultaneously measured with high-resolution search coils (paradigm 1)...
January 27, 2017: Cerebellum
https://www.readbyqxmd.com/read/27774574/constrained-spherical-deconvolution-tractography-reveals-cerebello-mammillary-connections-in-humans
#15
Alberto Cacciola, Demetrio Milardi, Alessandro Calamuneri, Lilla Bonanno, Silvia Marino, Pietro Ciolli, Margherita Russo, Daniele Bruschetta, Antonio Duca, Fabio Trimarchi, Angelo Quartarone, Giuseppe Anastasi
According to the classical view, the cerebellum has long been confined to motor control physiology; however, it has now become evident that it exerts several non-somatic features other than the coordination of movement and is engaged also in the regulation of cognition and emotion. In a previous diffusion-weighted imaging-constrained spherical deconvolution (CSD) tractography study, we demonstrated the existence of a direct cerebellum-hippocampal pathway, thus reinforcing the hypothesis of the cerebellar role in non-motor domains...
April 2017: Cerebellum
https://www.readbyqxmd.com/read/27734238/current-opinions-and-areas-of-consensus-on-the-role-of-the-cerebellum-in-dystonia
#16
REVIEW
Vikram G Shakkottai, Amit Batla, Kailash Bhatia, William T Dauer, Christian Dresel, Martin Niethammer, David Eidelberg, Robert S Raike, Yoland Smith, H A Jinnah, Ellen J Hess, Sabine Meunier, Mark Hallett, Rachel Fremont, Kamran Khodakhah, Mark S LeDoux, Traian Popa, Cécile Gallea, Stéphane Lehericy, Andreea C Bostan, Peter L Strick
A role for the cerebellum in causing ataxia, a disorder characterized by uncoordinated movement, is widely accepted. Recent work has suggested that alterations in activity, connectivity, and structure of the cerebellum are also associated with dystonia, a neurological disorder characterized by abnormal and sustained muscle contractions often leading to abnormal maintained postures. In this manuscript, the authors discuss their views on how the cerebellum may play a role in dystonia. The following topics are discussed: The relationships between neuronal/network dysfunctions and motor abnormalities in rodent models of dystonia...
April 2017: Cerebellum
https://www.readbyqxmd.com/read/27726094/cerebellar-pathology-in-early-onset-and-late-onset-essential-tremor
#17
Sheng-Han Kuo, Jie Wang, William J Tate, Ming-Kai Pan, Geoffrey C Kelly, Jesus Gutierrez, Etty P Cortes, Jean-Paul G Vonsattel, Elan D Louis, Phyllis L Faust
Early onset and late onset essential tremor (ET) cases differ in several respects. Whether they differ with respect to cerebellar pathologic changes remains to be determined. We quantified a broad range of postmortem features (Purkinje cell (PC) counts, PC axonal torpedoes and associated axonal changes, heterotopic PCs, and hairy basket ratings) in 30 ET cases with age of tremor onset <50 years, 30 ET cases with age of tremor onset ≥50 years, and 30 controls (total n = 90). We also used two alternative age of onset cut-points (<40 vs...
April 2017: Cerebellum
https://www.readbyqxmd.com/read/27709457/defining-trends-in-global-gene-expression-in-arabian-horses-with-cerebellar-abiotrophy
#18
E Y Scott, M C T Penedo, J D Murray, C J Finno
Equine cerebellar abiotrophy (CA) is a hereditary neurodegenerative disease that affects the Purkinje neurons of the cerebellum and causes ataxia in Arabian foals. Signs of CA are typically first recognized either at birth to any time up to 6 months of age. CA is inherited as an autosomal recessive trait and is associated with a single nucleotide polymorphism (SNP) on equine chromosome 2 (13074277G>A), located in the fourth exon of TOE1 and in proximity to MUTYH on the antisense strand. We hypothesize that unraveling the functional consequences of the CA SNP using RNA-seq will elucidate the molecular pathways underlying the CA phenotype...
April 2017: Cerebellum
https://www.readbyqxmd.com/read/27557734/spg7-and-impaired-emotional-communication
#19
Linwei Zhang, Karen N McFarland, S H Subramony, Kenneth M Heilman, Tetsuo Ashizawa
The goal of this report is to describe the genetic mutations of a patient with cerebellar degeneration who had ataxia and impaired emotional communication that led to damage of family relationships. We extracted genomic DNA from peripheral blood lymphocytes and performed whole exome sequencing (WES) in this patient and his unaffected parents and siblings. Found mutations were confirmed by Sanger sequencing in each individual. We found compound heterozygous mutations in the paraplegin (SPG7) gene. One mutated allele has been previously described as a disease-causing missense mutation for spastic paraplegia type 7 (SPG7) (c...
April 2017: Cerebellum
https://www.readbyqxmd.com/read/27538404/proprioceptive-localization-deficits-in-people-with-cerebellar-damage
#20
Heidi M Weeks, Amanda S Therrien, Amy J Bastian
It has been hypothesized that an important function of the cerebellum is predicting the state of the body during movement. Yet, the extent of cerebellar involvement in perception of limb state (i.e., proprioception, specifically limb position sense) has yet to be determined. Here, we investigated whether patients with cerebellar damage have deficits when trying to locate their hand in space (i.e., proprioceptive localization), which is highly important for everyday movements. By comparing performance during passive robot-controlled and active self-made multi-joint movements, we were able to determine that some cerebellar patients show improved precision during active movement (i...
April 2017: Cerebellum
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