| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Valérie Delague, Corinne Bareil, Patrice Bouvagnet, Nabiha Salem, Eliane Chouery, Jacques Loiselet, André Mégarbané, Mireille Claustre. A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze Family. Neurogenetics. vol 4. issue 1. 2003-01-09. PMID:12030328. |
congenital cerebellar ataxias are a heterogeneous group of non-progressive disorders characterized by hypotonia and developmental delay followed by the appearance of ataxia, and often associated with dysarthria, mental retardation, and atrophy of the cerebellum. |
2003-01-09 |
2023-08-12 |
Not clear |
| C Goizet, G Lesca, A Dür. Presymptomatic testing in Huntington's disease and autosomal dominant cerebellar ataxias. Neurology. vol 59. issue 9. 2002-12-09. PMID:12427879. |
presymptomatic testing in huntington's disease and autosomal dominant cerebellar ataxias. |
2002-12-09 |
2023-08-12 |
Not clear |
| C Goizet, G Lesca, A Dür. Presymptomatic testing in Huntington's disease and autosomal dominant cerebellar ataxias. Neurology. vol 59. issue 9. 2002-12-09. PMID:12427879. |
to report a 7-year experience of presymptomatic testing in persons at risk for huntington disease (hd) and to compare their characteristics and outcomes with those of persons at risk for a less disabling condition, autosomal dominant cerebellar ataxias (adca). |
2002-12-09 |
2023-08-12 |
Not clear |
| Núria de Vera, Lluïsa Camón, Emili Martíne. Cerebral distribution of polyamines in kainic acid-induced models of status epilepticus and ataxia in rats. Overproduction of putrescine and histological damage. European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology. vol 12. issue 5. 2002-11-22. PMID:12208557. |
after ataxia induced by kainic acid injection (2.34 nmols) into the cerebellum, putrescine also rises in all regions; a high concentration (9-fold) and severe damage was found in the injected cerebellar hemisphere. |
2002-11-22 |
2023-08-12 |
rat |
| Stephen G Waxma. Sodium channels as molecular targets in multiple sclerosis. Journal of rehabilitation research and development. vol 39. issue 2. 2002-11-14. PMID:12051467. |
if this hypothesis is correct, subtype-specific channel blockade may be therapeutically effective as a symptomatic treatment for ataxia and other cerebellar symptoms in ms. |
2002-11-14 |
2023-08-12 |
human |
| G Coppola, P Vajro, S De Virgiliis, E Ciccimarra, L Boccone, A Pascott. Cerebellar vermis defect, oligophrenia, congenital ataxia, and hepatic fibrocirrhosis without coloboma and renal abnormalities: report of three cases. Neuropediatrics. vol 33. issue 4. 2002-11-13. PMID:12368986. |
since in one patient hepatic involvement was subclinical and early therapy seemed to prevent disease progression, the presence of liver disease should be carefully investigated in any patient with ataxia and midline cerebellar defects. |
2002-11-13 |
2023-08-12 |
Not clear |
| Francesco Le Pira, Giuseppe Zappalà, Riccardo Saponara, Elisabetta Domina, Domenico Restivo, Ester Reggio, Alessandra Nicoletti, Salvatore Giuffrid. Cognitive findings in spinocerebellar ataxia type 2: relationship to genetic and clinical variables. Journal of the neurological sciences. vol 201. issue 1-2. 2002-10-16. PMID:12163194. |
several authors have recently reported a broad cognitive impairment in autosomal dominant cerebellar ataxias (adcas) patients. |
2002-10-16 |
2023-08-12 |
Not clear |
| Eugen Boltshauser, Jacques Schneider, Spyros Kollias, Peter Waibel, Markus Weisser. Vanishing cerebellum in myelomeningocoele. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. vol 6. issue 2. 2002-10-01. PMID:11995957. |
cerebellar damage can interfere with cognitive development, as shown in children with cerebellar agenesis/ hypoplasia, congenital ataxia and small cerebellum following prematurity. |
2002-10-01 |
2023-08-12 |
Not clear |
| Chankyu Park, Jacqueline H Finger, Jonathan A Cooper, Susan L Ackerma. The cerebellar deficient folia (cdf) gene acts intrinsically in Purkinje cell migrations. Genesis (New York, N.Y. : 2000). vol 32. issue 1. 2002-08-21. PMID:11835672. |
cerebellar deficient folia (cdf) is a recently identified mouse mutation causing ataxia and cerebellar abnormalities including lobulation defects and abnormal placement of a specific subset of purkinje cells. |
2002-08-21 |
2023-08-12 |
mouse |
| D Milewska, E Piłkowska, T Jakubowska, M Rakowicz, M Niewiadomska, K Niedzielska, E Walinowska, D Wochnik-Dyjas, G Rejnowski, E Zdzienicka, H Mierzewska, D Hoffman-Zacharska, J Zaremb. [Clinical picture of spinocerebellar ataxia type I (SCA1)]. Neurologia i neurochirurgia polska. vol 35. issue 6. 2002-06-24. PMID:11987714. |
cerebellar syndrome limb and truncal, ataxia and dysarthria was present in all cases. |
2002-06-24 |
2023-08-12 |
Not clear |
| Mario Mascalchi, Mirco Cosottini, Francesco Lolli, Fabrizio Salvi, Carlo Tessa, Marco Macucci, Michela Tosetti, Rosaria Plasmati, Alessandra Ferlini, Carlo Alberto Tassinari, Natale Villar. Proton MR spectroscopy of the cerebellum and pons in patients with degenerative ataxia. Radiology. vol 223. issue 2. 2002-06-13. PMID:11997539. |
proton mr spectroscopy of the cerebellum and pons in patients with degenerative ataxia. |
2002-06-13 |
2023-08-12 |
Not clear |
| David R Lynch, Gwen Lech, Jennifer M Farmer, Laura J Balcer, William Bank, Britton Chance, Robert B Wilso. Near infrared muscle spectroscopy in patients with Friedreich's ataxia. Muscle & nerve. vol 25. issue 5. 2002-06-06. PMID:11994959. |
friedreich's ataxia is a progressive neurodegenerative disorder of the afferent cerebellar pathways associated with mitochondrial dysfunction at the cellular level. |
2002-06-06 |
2023-08-12 |
Not clear |
| P Mastrangelo, D Westawa. Biology of the prion gene complex. Biochemistry and cell biology = Biochimie et biologie cellulaire. vol 79. issue 5. 2002-05-08. PMID:11716303. |
these lines of prnp0/0 mice exhibit ataxia and apoptosis of cerebellar cells, indicating that ectopic synthesis of dpl protein is toxic to cns neurons: this inference has now been confirmed by the construction of transgenic mice expressing dpl under the direct control of the prp promoter. |
2002-05-08 |
2023-08-12 |
mouse |
| M Hadjivassiliou, S Boscolo, G A B Davies-Jones, R A Grünewald, T Not, D S Sanders, J E Simpson, E Tongiorgi, C A Williamson, N M Woodroof. The humoral response in the pathogenesis of gluten ataxia. Neurology. vol 58. issue 8. 2002-05-07. PMID:11971090. |
to characterize humoral response to cerebellum in patients with gluten ataxia. |
2002-05-07 |
2023-08-12 |
Not clear |
| Joanna T Pang, Paola Giunti, Susan Chamberlain, Shu F An, Roberta Vitaliani, Tomaso Scaravilli, Lillian Martinian, Nicholas W Wood, Francesco Scaravilli, Olaf Ansorg. Neuronal intranuclear inclusions in SCA2: a genetic, morphological and immunohistochemical study of two cases. Brain : a journal of neurology. vol 125. issue Pt 3. 2002-05-03. PMID:11872620. |
spinocerebellar ataxia 2 (sca2) belongs to the family of autosomal dominant cerebellar ataxias (adca), a genetically heterogeneous group of neurodegenerative diseases. |
2002-05-03 |
2023-08-12 |
Not clear |
| R Ceravolo, B Fattori, A Nuti, G Dell'Agnello, G Cei, A Casani, A Nacci, L Murri, U Bonuccell. Contribution of cerebellum and brainstem in the control of eye movement: evidence from a functional study in a clinical model. Acta neurologica Scandinavica. vol 105. issue 1. 2002-05-03. PMID:11903106. |
the idiopathic cerebellar ataxias (idca) comprise a wide spectrum of neurodegenerative diseases with heterogeneous neuropathology, characterized by the negativity of search for any known genetic mutation. |
2002-05-03 |
2023-08-12 |
human |
| T Hayashi, T Nakajima, N Fukuhar. [Analysis of regional cerebral blood flow and distribution volume in Machado-Joseph disease by iodine-123I IMP single photon emission computed tomography]. Rinsho shinkeigaku = Clinical neurology. vol 41. issue 9. 2002-05-03. PMID:11968740. |
pearson's correlation analysis also showed a significant relationship between the vd in the cerebellar hemispheres and international cooperative ataxia rating scale (r = 0.644, p < 0.05). |
2002-05-03 |
2023-08-12 |
human |
| P N Shams, A Waldman, A Dogan, J M MacKenzie, G T Plan. Ataxia in the setting of complicated enteropathy: double jeopardy. Journal of neurology, neurosurgery, and psychiatry. vol 72. issue 4. 2002-05-01. PMID:11909917. |
this diagnostic possibility should be borne in mind before attributing cerebellar dysfunction in patients with the coeliac related enteropathies to nutritional compromise or immunological dysfunction (gluten ataxia) alone. |
2002-05-01 |
2023-08-12 |
Not clear |
| B P C van de Warrenburg, R J Sinke, C C Verschuuren-Bemelmans, H Scheffer, E R Brunt, P F Ippel, J A Maat-Kievit, D Dooijes, N C Notermans, D Lindhout, N V A M Knoers, H P H Kreme. Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis. Neurology. vol 58. issue 5. 2002-04-19. PMID:11889231. |
international prevalence estimates of autosomal dominant cerebellar ataxias (adca) vary from 0.3 to 2.0 per 100,000. |
2002-04-19 |
2023-08-12 |
Not clear |
| A Chakravarty, S C Mukherje. Autosomal dominant cerebellar ataxias in ethnic Bengalees in West Bengal - an Eastern Indian state. Acta neurologica Scandinavica. vol 105. issue 3. 2002-04-16. PMID:11886365. |
autosomal dominant cerebellar ataxias in ethnic bengalees in west bengal - an eastern indian state. |
2002-04-16 |
2023-08-12 |
Not clear |