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Bo Wang, Shuangshuang Han
Traumatic brain injury (TBI), resulting from external force on the head, usually leads to long-term deficits in motor and cognitive functions. Inducible nitric oxide synthase (iNOS)-mediated excessive inflammation could exacerbate brain damage after TBI. The present study therefore investigated the potential neuroprotective effects of iNOS inhibition after TBI. Male C57BL/6J mice were subjected to controlled cortical impact injury and then treated with high selective iNOS inhibitor 1400W. Expression of iNOS mRNA was determined by quantitative RT-PCR...
March 20, 2018: Cerebellum
Martin Paucar, Åsa Bergendal, Peter Gustavsson, Magnus Nordenskjöld, José Laffita-Mesa, Irina Savitcheva, Per Svenningsson
Spinocerebellar ataxia type 19 (SCA19), allelic with spinocerebellar ataxia type 22 (SCA22), is a rare syndrome caused by mutations in the KCND3 gene which encodes the potassium channel Kv4.3. Only 18 SCA19/22 families and sporadic cases of different ethnic backgrounds have been previously reported. As in other SCAs, the SCA19/22 phenotype is variable and usually consists of adult-onset slowly progressive ataxia and cognitive impairment; myoclonus and seizures; mild Parkinsonism occurs in some cases. Here we describe a Swedish SCA19/22 family spanning five generations and harboring the T377M mutation in KCND3...
March 12, 2018: Cerebellum
Alexander Balck, Sinem Tunc, Johanna Schmitz, Ronja Hollstein, Frank J Kaiser, Norbert Brüggemann
No abstract text is available yet for this article.
March 1, 2018: Cerebellum
Alberto Zanatta, Céline Cherici, Alessandro Bargoni, Serena Buzzi, Valentina Cani, Paolo Mazzarello, Fabio Zampieri
Vincenzo Malacarne, professor of medicine, surgery, and obstetrics in Turin, Pavia, and Padua, Italy, represented a perfect example of an eighteenth century "letterato", combining interests in humanities, sciences, and politics, embodying the ideal of an encyclopedic and universal culture. He made important contributions in anatomy and surgery, teratology, obstetrics, neurology, and history of medicine, adopting a interdisciplinary approach based on the correlation between anatomy, surgery, and clinics...
February 27, 2018: Cerebellum
F H S Michelle Welman, Albertine E Smit, Joost L M Jongen, Dick Tibboel, Jos N van der Geest, Jan C Holstege
Many fMRI studies have shown activity in the cerebellum after peripheral nociceptive stimulation. We investigated whether the areas in the cerebellum that were activated after nociceptive thumb stimulation were separate from those after nociceptive toe stimulation. In an additional experiment, we investigated the same for the anticipation of a nociceptive stimulation on the thumb or toe. For his purpose, we used fMRI after an electrical stimulation of the thumb and toe in 19 adult healthy volunteers. Following nociceptive stimulation, different areas were activated by stimulation on the thumb (lobule VI ipsilaterally and Crus II mainly contralaterally) and toe (lobules VIII-IX and IV-V bilaterally and lobule VI contralaterally), i...
February 26, 2018: Cerebellum
Francesco Nicita, Giorgio Tasca, Marta Nardella, Emanuele Bellacchio, Ilaria Camponeschi, Gessica Vasco, Tommaso Schirinzi, Enrico Bertini, Ginevra Zanni
Mutations in KCNJ10, which encodes the inwardly rectifying potassium channel Kir4.1, a primary regulator of membrane excitability and potassium homeostasis, cause a complex syndrome characterized by seizures, sensorineural deafness, ataxia, intellectual disability, and electrolyte imbalance called SeSAME/EAST syndrome. We describe a 41-year-old patient with non-syndromic, slowly progressive, early-onset ataxia. Targeted next-generation sequencing identified a novel c.180 T > G (p.Ile60Met) missense homozygous mutation...
February 23, 2018: Cerebellum
Jin-Shan Yang, Ping-Ping Chen, Min-Ting Lin, Mei-Zhen Qian, Hui-Xia Lin, Xiao-Ping Chen, Xian-Jin Shang, Dan-Ni Wang, Yu-Chao Chen, Bin Jiang, Yi-Jun Chen, Ning Wang, Wan-Jin Chen, Shi-Rui Gan
Spinocerebellar ataxia type 3 (SCA3), the most common subtype of SCA worldwide, is caused by mutation of CAG repeats expansion in ATXN3. Body mass index (BMI) is an important modulatory factor in the progression of neurodegenerative disorders such as Huntington disease and amyotrophic lateral sclerosis. However, its relevance in SCA3 is not well understood. In this study, BMI was investigated in 134 molecularly confirmed SCA3 patients and 136 healthy controls from China. The multivariable linear regression models were performed to establish the putative risk factors for BMI, and whether BMI could affect the severity of ataxia...
February 23, 2018: Cerebellum
Michela Lupo, Giusy Olivito, Libera Siciliano, Marcella Masciullo, Marco Bozzali, Marco Molinari, Maria Leggio
Cerebellar dysfunction plays a critical role in neurodevelopmental disorders with long-term behavioral and neuropsychiatric symptoms. A 43-year-old woman with a cerebellum arteriovenous malformation and history of behavioral dysregulation since childhood is described. After the rupture of the cerebellar malformation in adulthood, her behavior morphed into specific psychiatric symptoms and cognitive deficits occurred. The neuropsychological assessment evidenced impaired performance in attention, visuospatial, memory, and language domains...
February 19, 2018: Cerebellum
Hiroshi Mitoma, Mario Manto, Christiane S Hampe
The cerebellum characteristically has the capacity to compensate for and restore lost functions. These compensatory/restorative properties are explained by an abundant synaptic plasticity and the convergence of multimodal central and peripheral signals. In addition, extra-cerebellar structures contribute also to the recovery after a cerebellar injury. Clinically, some patients show remarkable improvement of severe ataxic symptoms associated with trauma, stroke, metabolism, or immune-mediated cerebellar ataxia (IMCA, e...
February 19, 2018: Cerebellum
Jan Cendelin, Zdenka Purkartova, Jakub Kubik, Erik Ulbricht, Filip Tichanek, Yaroslav Kolinko
For many degenerative cerebellar diseases, currently, no effective treatment that would substantially restore cerebellar functions is available. Neurotransplantation could be a promising therapy for such cases. Nevertheless, there are still severe limitations for routine clinical use. The aim of the work was to assess volume and morphology and functional impact on motor skills of an embryonic cerebellar graft injected in the form of cell suspension in Lurcher mutant and wild-type mice of the B6CBA and C3H strains after a 6-month survival period...
February 15, 2018: Cerebellum
Lauren M Watson, Maggie M K Wong, Jane Vowles, Sally A Cowley, Esther B E Becker
The establishment of a reliable model for the study of Purkinje cells in vitro is of particular importance, given their central role in cerebellar function and pathology. Recent advances in induced pluripotent stem cell (iPSC) technology offer the opportunity to generate multiple neuronal subtypes for study in vitro. However, to date, only a handful of studies have generated Purkinje cells from human pluripotent stem cells, with most of these protocols proving challenging to reproduce. Here, we describe a simplified method for the reproducible generation of Purkinje cells from human iPSCs...
February 3, 2018: Cerebellum
Tommaso Schirinzi, Federica Graziola, Francesco Nicita, Lorena Travaglini, Fabrizia Stregapede, Massimiliano Valeriani, Paolo Curatolo, Enrico Bertini, Federico Vigevano, Alessandro Capuano
ATP1A3 mutations are related to a wide spectrum of clinical conditions, including several defined syndromes as rapid-onset dystonia-parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS), together with many other intermediate phenotypes. Ataxia is always more increasingly reported, either as accessory or prominent sign, in ATP1A3-related conditions, being thus considered as a peculiar feature of this spectrum...
February 3, 2018: Cerebellum
James R Houston, Michelle L Hughes, Mei-Ching Lien, Bryn A Martin, Francis Loth, Mark G Luciano, Sarel Vorster, Philip A Allen
Type I Chiari malformation (CMI) is a neurological condition in which the cerebellar tonsils descend into the cervical spinal subarachnoid space resulting in cervico-medullary compression. Early case-control investigations have indicated cognitive deficits in the areas of attention, memory, processing speed, and visuospatial function. The present study further examined cognitive and emotional processing deficits associated with CMI using a dual-task paradigm. Nineteen CMI patients were recruited during pre-surgical consultation and 19 matched control participants identified emotional expressions in separate single and asynchronous dual-task designs...
January 30, 2018: Cerebellum
Parviz Daniel Hejazi Pastor, Xiaofei Du, Sarah Fazal, Andre N Davies, Christopher M Gomez
We have discovered that the P/Q-type voltage-gated Ca2+ channel (VGCC) gene, CACNA1A, encodes both the α1A (Cav2.1) subunit and a newly recognized transcription factor, α1ACT, by means of a novel internal ribosomal entry site (IRES) within the α1A C-terminal coding region. α1ACT, when mutated with an expansion of the polyglutamine tract in the C-terminus, gives rise to spinocerebellar ataxia type 6 (SCA6). Because silencing of the entire CACNA1A gene would result in the loss of the essential Cav2.1 channel, the IRES controlling α1ACT expression is an excellent target for selective silencing of α1ACT as a therapeutic intervention for SCA6...
January 26, 2018: Cerebellum
Francesca Bianchi, Marie Vidailhet, Bertrand Gaymard
Eye movement examination may be used to rapidly differentiate peripheral and central vestibular syndromes in patients with acute unsteadiness. The analysis of oculomotor impairments may also support the accurate localization of cerebral lesions, particularly those in the brainstem, that are often loosely defined by cerebral MRIs. Saccades, smooth pursuit, and nystagmus were recorded with video-oculography in a patient who had developed sudden vertigo as a consequence of a focal lesion in the depth of the brachium pontis...
January 22, 2018: Cerebellum
(no author information available yet)
No abstract text is available yet for this article.
January 20, 2018: Cerebellum
Fumihito Saitow, Masatoshi Nagano, Hidenori Suzuki
Outputs from the cerebellar nuclei (CN) are important for generating and controlling movement. The activity of CN neurons is controlled not only by excitatory inputs from mossy and climbing fibers and by γ-aminobutyric acid (GABA)-based inhibitory transmission from Purkinje cells in the cerebellar cortex but is also modulated by inputs from other brain regions, including serotonergic fibers that originate in the dorsal raphe nuclei. We examined the modulatory effects of serotonin (5-HT) on GABAergic synapses during development, using rat cerebellar slices...
January 19, 2018: Cerebellum
Hassan Marzban, Mario Manto, Jean Mariani
In recent years, there has been tremendous growth in research on cerebellar motor and non-motor functions. Cerebellum is particularly involved in the spectrum of neurodevelopmental diseases. The 8th International Symposium of the Society for Research on the Cerebellum and Ataxia (SRCA) was held in Winnipeg, Manitoba, (Canada) on May 24-26, 2017. The main theme of the 8th International Symposium was "Development of the Cerebellum and Neurodevelopmental Disorders." Advances in genetics, epigenetic, cerebellar neurogenesis, axonogenesis and gliogenesis, cerebellar developmental disorders including autism spectrum disorders (ASD), neuroimaging, cerebellar ataxias, medulloblastoma, and clinical investigation of cerebellar diseases were presented...
January 18, 2018: Cerebellum
Teresa Costabile, Veronica Capretti, Filomena Abate, Agnese Liguori, Francesca Paciello, Chiara Pane, Anna De Rosa, Silvio Peluso, Giuseppe De Michele, Alessandro Filla, Francesco Saccà
Friedreich's ataxia (FRDA) is an autosomal recessive disease presenting with ataxia, corticospinal signs, peripheral neuropathy, and cardiac abnormalities. Little effort has been made to understand the psychological and emotional burden of the disease. The aim of our study was to measure patients' ability to recognize emotions using visual and non-verbal auditory hints, and to correlate this ability with psychological, neuropsychological, and neurological variables. We included 20 patients with FRDA, and 20 age, sex, and education matched healthy controls (HC)...
January 11, 2018: Cerebellum
Alessandro Ieraci, Daniel G Herrera
Fetal alcohol spectrum disorder (FASD) is the principal preventable cause of mental retardation in the western countries resulting from alcohol exposure during pregnancy. Ethanol-induced massive neuronal cell death occurs mainly in immature neurons during the brain growth spurt period. The cerebellum is one of the brain areas that are most sensitive to ethanol neurotoxicity. Currently, there is no effective treatment that targets the causes of these disorders and efficient treatments to counteract or reverse FASD are desirable...
January 11, 2018: Cerebellum
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