| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| T Connelly, J M Farmer, D R Lynch, R L Dot. Olfactory dysfunction in degenerative ataxias. Journal of neurology, neurosurgery, and psychiatry. vol 74. issue 10. 2003-11-04. PMID:14570842. |
in this study, we administered the university of pennsylvania smell identification test (upsit), a standardised test of olfactory function, to patients with ataxias primarily due to cerebellar pathology (spinocerebellar ataxias and related disorders) and to patients with friedreich ataxia, an ataxia associated mainly with loss of afferent cerebellar pathways. |
2003-11-04 |
2023-08-12 |
human |
| D Hanzlícek, I Kathmann, T Bley, P Srenk, C Botteron, C Gaillard, A Jagg. [Cerebellar cortical abiotrophy in American Staffordshire terriers: clinical and pathological description of 3 cases]. Schweizer Archiv fur Tierheilkunde. vol 145. issue 8. 2003-10-20. PMID:12951908. |
in contrast to some spinocerebellar ataxias in humans, the cause of purkinje cell degeneration in cerebellar cortical abiotrophy of dogs is not known. |
2003-10-20 |
2023-08-12 |
dog |
| Marios Hadjivassiliou, Richard Grünewald, Basil Sharrack, David Sanders, Alan Lobo, Clare Williamson, Nicola Woodroofe, Nicholas Wood, Aelwyn Davies-Jone. Gluten ataxia in perspective: epidemiology, genetic susceptibility and clinical characteristics. Brain : a journal of neurology. vol 126. issue Pt 3. 2003-05-09. PMID:12566288. |
two hundred and twenty-four patients with various causes of ataxia from north trent (59 familial and/or positive testing for spinocerebellar ataxias 1, 2, 3, 6 and 7, and friedreich's ataxia, 132 sporadic idiopathic and 33 clinically probable cerebellar variant of multiple system atrophy msa-c) and 44 patients with sporadic idiopathic ataxia from the institute of neurology, london, were screened for the presence of antigliadin antibodies. |
2003-05-09 |
2023-08-12 |
human |
| J H Anderson, M C Yavuz, B M Kazar, P Christova, C M Gome. The vestibulo-ocular reflex and velocity storage in spinocerebellar ataxia 8. Archives italiennes de biologie. vol 140. issue 4. 2003-01-22. PMID:12228985. |
the autosomal dominant spinocerebellar ataxias (scas) are a group of neurodegenerative diseases characterized by progressive instability of posture and gait, incoordination, ocular motor dysfunction, and dysarthria due to degeneration of cerebellar and brainstem neurons. |
2003-01-22 |
2023-08-12 |
Not clear |
| Ichiro Yabe, Hidenao Sasaki, Seiji Kikuchi, Michio Nonaka, Fumio Moriwaka, Kunio Tashir. Late onset ataxia phenotype in dentatorubro-pallidoluysian atrophy (DRPLA). Journal of neurology. vol 249. issue 4. 2002-12-24. PMID:11967648. |
atrophy of the cerebellum and brain stem an ct or mri had suggested dominant spinocerebellar ataxia as a diagnosis in their ataxia-predominant stage, with a diagnosis of drpla being impossible based on the clinical findings alone. |
2002-12-24 |
2023-08-12 |
Not clear |
| K Ishikaw. [Autosomal dominant cortical cerebellar atrophy (ADCCA) linked to chromosome 16q]. Rinsho shinkeigaku = Clinical neurology. vol 41. issue 12. 2002-11-08. PMID:12235813. |
the clinical characteristics of our 6 families with 16q-adcca were slowly progressive pure cerebellar syndrome with late age of onset (average +/- sd years: 55.9 +/- 10.0), which contrasts with more earlier onset, prominent sensory neuropathy and pyramidal tract signs seen in spinocerebellar ataxia type 4 (sca4) linked to the same chromosomal region. |
2002-11-08 |
2023-08-12 |
Not clear |
| Jenni Jonasson, Anna-Lena Ström, Patricia Hart, Thomas Brännström, Lars Forsgren, Monica Holmber. Expression of ataxin-7 in CNS and non-CNS tissue of normal and SCA7 individuals. Acta neuropathologica. vol 104. issue 1. 2002-09-13. PMID:12070661. |
spinocerebellar ataxia type 7 (sca7) is a neurodegenerative disorder primarily affecting the cerebellum, brain stem and retina. |
2002-09-13 |
2023-08-12 |
Not clear |
| Masatada Mori, Yoshiki Adachi, Nozomi Mori, Saiko Kurihara, Yoshihiro Kashiwaya, Masayoshi Kusumi, Takao Takeshima, Kenji Nakashim. Double-blind crossover study of branched-chain amino acid therapy in patients with spinocerebellar degeneration. Journal of the neurological sciences. vol 195. issue 2. 2002-05-30. PMID:11897246. |
the estimated improvement in kinetic functions compared with pretreatment (p<0.01) was significant after treatment with bcaa, 1.5 and 3.0 g. all of the responders manifested predominantly cerebellar symptoms, especially those with spinocerebellar ataxia type 6 (sca6). |
2002-05-30 |
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 |
| D E McNeil, W M Linehan, G M Glen. Comorbid genetic diseases, von Hippel-Lindau disease and spinocerebellar ataxia type 2, confounding the diagnosis of cerebellar dysfunction in an adolescent. Clinical neurology and neurosurgery. vol 103. issue 4. 2002-02-26. PMID:11714564. |
comorbid genetic diseases, von hippel-lindau disease and spinocerebellar ataxia type 2, confounding the diagnosis of cerebellar dysfunction in an adolescent. |
2002-02-26 |
2023-08-12 |
Not clear |
| J A Cholfin, M J Sobrido, S Perlman, S M Pulst, D H Geschwin. The SCA12 mutation as a rare cause of spinocerebellar ataxia. Archives of neurology. vol 58. issue 11. 2001-12-07. PMID:11708992. |
spinocerebellar ataxias are a group of phenotypically and genetically heterogeneous disorders characterized by progressive degeneration of the cerebellum. |
2001-12-07 |
2023-08-12 |
Not clear |
| R J Sinke, E F Ippel, C M Diepstraten, F A Beemer, J H Wokke, B J van Hilten, N V Knoers, H K van Amstel, H P Kreme. Clinical and molecular correlations in spinocerebellar ataxia type 6: a study of 24 Dutch families. Archives of neurology. vol 58. issue 11. 2001-12-07. PMID:11708993. |
autosomal dominant cerebellar ataxias (adcas), or spinocerebellar ataxias (scas), are a heterogeneous group of neurodegenerative disorders. |
2001-12-07 |
2023-08-12 |
Not clear |
| T Saka. Effects of tetrahydrobiopterin on ataxia in Machado-Joseph disease may be based upon the theory of 'cerebellar long-term depression'. Medical hypotheses. vol 57. issue 2. 2001-10-18. PMID:11461169. |
if cerebellar long-term depression is the case as the theoretical basis of bh4, it will open a new page of therapeutic strategy for spinocerebellar ataxias. |
2001-10-18 |
2023-08-12 |
Not clear |
| W Soong B, C Lu Y, B Choo K, Y Lee . Frequency analysis of autosomal dominant cerebellar ataxias in Taiwanese patients and clinical and molecular characterization of spinocerebellar ataxia type 6. Archives of neurology. vol 58. issue 7. 2001-08-02. PMID:11448300. |
frequency analysis of autosomal dominant cerebellar ataxias in taiwanese patients and clinical and molecular characterization of spinocerebellar ataxia type 6. |
2001-08-02 |
2023-08-12 |
Not clear |
| S M Boesch, M Schocke, K Bürk, P Hollosi, F Fornai, F T Aichner, W Poewe, S Felbe. Proton magnetic resonance spectroscopic imaging reveals differences in spinocerebellar ataxia types 2 and 6. Journal of magnetic resonance imaging : JMRI. vol 13. issue 4. 2001-06-07. PMID:11276099. |
the objective of this study was to investigate cerebellar metabolism in patients with autosomal dominant cerebellar ataxia type 1 (adca-i) carrying two distinct mutations of spinocerebellar ataxia (sca). |
2001-06-07 |
2023-08-12 |
Not clear |
| P Bomont, M Watanabe, R Gershoni-Barush, M Shizuka, M Tanaka, J Sugano, C Guiraud-Chaumeil, M Koeni. Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33-34, and with hearing impairment and optic atrophy to 6p21-23. European journal of human genetics : EJHG. vol 8. issue 12. 2001-02-22. PMID:11175288. |
homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33-34, and with hearing impairment and optic atrophy to 6p21-23. |
2001-02-22 |
2023-08-12 |
Not clear |
| M Hsieh, S J Lin, J F Chen, H M Lin, K M Hsiao, S Y Li, C Li, C J Tsa. Identification of the spinocerebellar ataxia type 7 mutation in Taiwan: application of PCR-based Southern blot. Journal of neurology. vol 247. issue 8. 2001-02-01. PMID:11041330. |
spinocerebellar ataxia (sca) type 7 is an autosomal dominant disorder characterized by neural loss, mainly in the cerebellum and regions of the brainstem and particularly the inferior olivary complex. |
2001-02-01 |
2023-08-12 |
Not clear |
| M Jäger, F von Rosen, G Fesl, T Gasse. [Typical anticipation in type 7 spinocerebellar ataxia]. Der Nervenarzt. vol 71. issue 10. 2001-01-11. PMID:11082815. |
spinocerebellar ataxia type 7 (sca7) belongs to the category of autosomal dominant cerebellar ataxias (adca). |
2001-01-11 |
2023-08-12 |
Not clear |
| N T Potter, M A Nanc. Genetic testing for ataxia in North America. Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology. vol 5. issue 2. 2000-11-21. PMID:11066010. |
the ataxia molecular diagnostics testing group was established to generate quantitative proficiency and outcomes data regarding molecular testing for the autosomal dominant cerebellar ataxias (spinocerebellar ataxia types 1 [sca-1] through -3, -6, and -7, and dentatorubral-pallidoluysian atrophy) in north america. |
2000-11-21 |
2023-08-12 |
Not clear |
| S Restituito, R M Thompson, J Eliet, R S Raike, M Riedl, P Charnet, C M Gome. The polyglutamine expansion in spinocerebellar ataxia type 6 causes a beta subunit-specific enhanced activation of P/Q-type calcium channels in Xenopus oocytes. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 20. issue 17. 2000-09-28. PMID:10964945. |
spinocerebellar ataxia type 6 (sca6) is a dominantly inherited degenerative disorder of the cerebellum characterized by nearly selective and progressive death of purkinje cells. |
2000-09-28 |
2023-08-12 |
xenopus_laevis |