All Relations between Ataxia and cerebellum

Publication Sentence Publish Date Extraction Date Species
Yubin Wang, Joshua Hersheson, Dulce Lopez, Monia Hammer, Yan Liu, Ka-Hung Lee, Vanessa Pinto, Jeff Seinfeld, Sarah Wiethoff, Jiandong Sun, Rim Amouri, Faycal Hentati, Neema Baudry, Jennifer Tran, Andrew B Singleton, Marie Coutelier, Alexis Brice, Giovanni Stevanin, Alexandra Durr, Xiaoning Bi, Henry Houlden, Michel Baudr. Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans. Cell reports. vol 16. issue 1. 2017-11-21. PMID:27320912. calpain-1 knockout (ko) mice also exhibit a mild form of ataxia due to abnormal cerebellar development, including enhanced neuronal apoptosis, decreased number of cerebellar granule cells, and altered synaptic transmission. 2017-11-21 2023-08-13 mouse
Toni L Uhlendorf, Ruslan L Nuryyev, Alex O Kopyov, Jessica Ochoa, Shahab Younesi, Randy W Cohen, Oleg V Kopyo. Efficacy of Two Delivery Routes for Transplanting Human Neural Progenitor Cells (NPCs) Into the Spastic Han-Wistar Rat, a Model of Ataxia. Cell transplantation. vol 26. issue 2. 2017-11-21. PMID:27938495. in this study, we investigated the effectiveness of two different delivery routes of human-derived npc inoculation: injection into the common carotid artery or unilateral stereotactic implantation into the degenerating cerebellum and hippocampus of spastic han-wistar (shw) rats, a model of ataxia. 2017-11-21 2023-08-13 human
Bruno Benedetti, Ariane Benedetti, Bernhard E Fluche. Loss of the calcium channel β4 subunit impairs parallel fibre volley and Purkinje cell firing in cerebellum of adult ataxic mice. The European journal of neuroscience. vol 43. issue 11. 2017-11-13. PMID:27003325. β4 is abundant in cerebellum and its loss causes ataxia. 2017-11-13 2023-08-13 mouse
Catherine J Stoodley, Jason P MacMore, Nikos Makris, Janet C Sherman, Jeremy D Schmahman. Location of lesion determines motor vs. cognitive consequences in patients with cerebellar stroke. NeuroImage. Clinical. vol 12. 2017-11-06. PMID:27812503. eighteen patients with isolated cerebellar stroke (13 males, 5 females; 20-66 years old) were evaluated using measures of ataxia and neurocognitive ability. 2017-11-06 2023-08-13 Not clear
Catherine J Stoodley, Jason P MacMore, Nikos Makris, Janet C Sherman, Jeremy D Schmahman. Location of lesion determines motor vs. cognitive consequences in patients with cerebellar stroke. NeuroImage. Clinical. vol 12. 2017-11-06. PMID:27812503. patients with damage to cerebellar lobules iii-vi had worse ataxia scores: as predicted, the cerebellar motor syndrome resulted from lesions involving the anterior cerebellum. 2017-11-06 2023-08-13 Not clear
Stacey L Main, Randy J Kulesz. Repeated prenatal exposure to valproic acid results in cerebellar hypoplasia and ataxia. Neuroscience. vol 340. 2017-11-06. PMID:27984183. repeated prenatal exposure to valproic acid results in cerebellar hypoplasia and ataxia. 2017-11-06 2023-08-13 rat
Carmen Rodríguez-Cueto, Mariluz Hernández-Gálvez, Cecilia J Hillard, Patricia Maciel, Luis García-García, Sara Valdeolivas, Miguel A Pozo, José A Ramos, María Gómez-Ruiz, Javier Fernández-Rui. Dysregulation of the endocannabinoid signaling system in the cerebellum and brainstem in a transgenic mouse model of spinocerebellar ataxia type-3. Neuroscience. vol 339. 2017-10-30. PMID:27717809. our recent findings that endocannabinoid receptors and enzymes are significantly altered in the post-mortem cerebellum of patients affected by autosomal-dominant hereditary ataxias suggest that targeting the endocannabinoid signaling system may be a promising therapeutic option. 2017-10-30 2023-08-13 mouse
Isaac Marin-Valencia, Andreas Gerondopoulos, Maha S Zaki, Tawfeg Ben-Omran, Mariam Almureikhi, Ercan Demir, Alicia Guemez-Gamboa, Anne Gregor, Mahmoud Y Issa, Bart Appelhof, Susanne Roosing, Damir Musaev, Basak Rosti, Sara Wirth, Valentina Stanley, Frank Baas, Francis A Barr, Joseph G Gleeso. Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia. American journal of human genetics. vol 101. issue 3. 2017-10-27. PMID:28823706. in addition to reduced volume of pons and cerebellum, affected individuals had microcephaly, psychomotor delay, and ataxia. 2017-10-27 2023-08-13 human
Alice Masurel-Paulet, Amélie Piton, Sophie Chancenotte, Claire Redin, Christel Thauvin-Robinet, Yvan Henrenger, Delphine Minot, Audrey Creppy, Marie Ruffier-Bourdet, Julien Thevenon, Paul Kuentz, Daphné Lehalle, Aurore Curie, Gaelle Blanchard, Ezzat Ghosn, Marlene Bonnet, Mélanie Archimbaud-Devilliers, Frédéric Huet, Odile Perret, Nicole Philip, Jean-Louis Mandel, Laurence Faivr. A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome. American journal of medical genetics. Part A. vol 170. issue 8. 2017-10-24. PMID:27256868. mutations in slc9a6 have been reported in x-linked christianson syndrome associating severe to profound intellectual deficiency and an angelman-like phenotype with microcephaly, absent speech, ataxia with progressive cerebellar atrophy, ophthalmoplegia, epilepsy, and neurological regression. 2017-10-24 2023-08-13 Not clear
Elisa Giorgio, Andrea Ciolfi, Elisa Biamino, Viviana Caputo, Eleonora Di Gregorio, Elga Fabia Belligni, Alessandro Calcia, Elena Gaidolfi, Alessandro Bruselles, Cecilia Mancini, Simona Cavalieri, Cristina Molinatto, Margherita Cirillo Silengo, Giovanni Battista Ferrero, Marco Tartaglia, Alfredo Brusc. Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples. American journal of medical genetics. Part A. vol 170. issue 7. 2017-10-23. PMID:27108886. vldlr-associated cerebellar hypoplasia (vldlr-ch) is characterized by non-progressive congenital ataxia and moderate-to-profound intellectual disability. 2017-10-23 2023-08-13 Not clear
Siddharth Srivastava, Heather E Olson, Julie S Cohen, Cynthia S Gubbels, Sharyn Lincoln, Brigette Tippin Davis, Layla Shahmirzadi, Siddharth Gupta, Jonathan Picker, Timothy W Yu, David T Miller, Janet S Soul, Andrea Poretti, SakkuBai Naid. BRAT1 mutations present with a spectrum of clinical severity. American journal of medical genetics. Part A. vol 170. issue 9. 2017-10-19. PMID:27282546. representing mild severity are three individuals (patients 1-3), who are girls (including two sisters, patients 1-2) between 4 and 10 years old, with subtle dysmorphisms, intellectual disability, ataxia or dyspraxia, and cerebellar atrophy on brain mri; additionally, patient 3 has well-controlled epilepsy and microcephaly. 2017-10-19 2023-08-13 Not clear
Roberta De Mori, Marta Romani, Stefano D'Arrigo, Maha S Zaki, Elisa Lorefice, Silvia Tardivo, Tommaso Biagini, Valentina Stanley, Damir Musaev, Joel Fluss, Alessia Micalizzi, Sara Nuovo, Barbara Illi, Luisa Chiapparini, Lucia Di Marcotullio, Mahmoud Y Issa, Danila Anello, Antonella Casella, Monia Ginevrino, Autumn Sa'na Leggins, Susanne Roosing, Romina Alfonsi, Jessica Rosati, Rachel Schot, Grazia Maria Simonetta Mancini, Enrico Bertini, William B Dobyns, Tommaso Mazza, Joseph G Gleeson, Enza Maria Valent. Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects. American journal of human genetics. vol 101. issue 4. 2017-10-16. PMID:28965847. the children presented congenital ataxia and cerebellar vermis hypoplasia with elongated superior cerebellar peduncles (mild "molar tooth sign"), typical cranio-facial dysmorphisms (hypertelorism, depressed nasal bridge, frontal bossing), and postaxial polydactyly. 2017-10-16 2023-08-13 mouse
Tjitske F Lawerman, Rick Brandsma, Huibert Burger, Johannes G M Burgerhof, Deborah A Siva. Age-related reference values for the pediatric Scale for Assessment and Rating of Ataxia: a multicentre study. Developmental medicine and child neurology. vol 59. issue 10. 2017-09-29. PMID:28815574. for reliable assessment of ataxia severity in children, the childhood ataxia and cerebellar group of the european pediatric neurology society aimed to validate the scale for assessment and rating of ataxia (sara) according to age. 2017-09-29 2023-08-13 Not clear
Alessandro Picelli, Paola Zuccher, Giampaolo Tomelleri, Paolo Bovi, Giuseppe Moretto, Andreas Waldner, Leopold Saltuari, Nicola Smani. Prognostic Importance of Lesion Location on Functional Outcome in Patients with Cerebellar Ischemic Stroke: a Prospective Pilot Study. Cerebellum (London, England). vol 16. issue 1. 2017-09-26. PMID:26758032. we examined 14 patients with first-ever unilateral cerebellar ischemic stroke within 7 days and at 90 days from the onset of stroke by means of the international cooperative ataxia rating scale. 2017-09-26 2023-08-13 human
Alessandro Picelli, Paola Zuccher, Giampaolo Tomelleri, Paolo Bovi, Giuseppe Moretto, Andreas Waldner, Leopold Saltuari, Nicola Smani. Prognostic Importance of Lesion Location on Functional Outcome in Patients with Cerebellar Ischemic Stroke: a Prospective Pilot Study. Cerebellum (London, England). vol 16. issue 1. 2017-09-26. PMID:26758032. our results documented that injuries to the v, vi, viia crus i, viia crus ii, viib, viiia, and viiib lobules and the middle cerebellar peduncle are significantly associated with the international cooperative ataxia rating scale (icars) score at 1 week after the onset of stroke. 2017-09-26 2023-08-13 human
Giorgia Chini, Alberto Ranavolo, Francesco Draicchio, Carlo Casali, Carmela Conte, Giovanni Martino, Luca Leonardi, Luca Padua, Gianluca Coppola, Francesco Pierelli, Mariano Serra. Local Stability of the Trunk in Patients with Degenerative Cerebellar Ataxia During Walking. Cerebellum (London, England). vol 16. issue 1. 2017-09-26. PMID:26811155. furthermore, the maximum lyapunov exponent was negatively correlated with icars balance, icars posture, and icars total scores.these findings indicate that trunk local stability during gait is lower in patients with cerebellar degenerative ataxia than that in healthy controls and that this may increase the risk of falls. 2017-09-26 2023-08-13 Not clear
Laura Ludovica Gramegna, Caterina Tonon, David Neil Manners, Antonella Pini, Rita Rinaldi, Stefano Zanigni, Claudio Bianchini, Stefania Evangelisti, Filippo Fortuna, Valerio Carelli, Claudia Testa, Raffaele Lod. Combined Cerebellar Proton MR Spectroscopy and DWI Study of Patients with Friedreich's Ataxia. Cerebellum (London, England). vol 16. issue 1. 2017-09-26. PMID:26897753. combined cerebellar proton mr spectroscopy and dwi study of patients with friedreich's ataxia. 2017-09-26 2023-08-13 Not clear
Sarah Wiethoff, Conceição Bettencourt, Reema Paudel, Prochi Madon, Yo-Tsen Liu, Joshua Hersheson, Noshir Wadia, Joy Desai, Henry Houlde. Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene. Cerebellum (London, England). vol 16. issue 1. 2017-09-26. PMID:26995604. autosomal-recessive cerebellar ataxias (arca) are clinically and genetically heterogeneous conditions primarily affecting the cerebellum. 2017-09-26 2023-08-13 Not clear
C Tzoulis, Paweł Sztromwasser, Stefan Johansson, Ivar Otto Gjerde, Per Knappskog, L A Bindof. PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema. Cerebellum (London, England). vol 16. issue 1. 2017-09-26. PMID:27165045. this patient had the typical findings with cognitive dysfunction, peripheral neuropathy, cerebellar dysarthria, horizontal nystagmus, oculomotor apraxia, and severe truncal and appendicular ataxia. 2017-09-26 2023-08-13 Not clear
Nicolas Nicastro, Emmanuelle Ranza, Stylianos E Antonarakis, Judit Horvat. Pure Progressive Ataxia and Palatal Tremor (PAPT) Associated with a New Polymerase Gamma (POLG) Mutation. Cerebellum (London, England). vol 15. issue 6. 2017-09-25. PMID:26607151. progressive ataxia with palatal tremor (papt) is a syndrome caused by cerebellar and brainstem lesions involving the dentato-rubro-olivary tract and associated with hypertrophic olivary degeneration. 2017-09-25 2023-08-13 Not clear