| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Isabelle Le Ber, Naïma Bouslam, Sophie Rivaud-Péchoux, João Guimarães, Ali Benomar, Céline Chamayou, Cyril Goizet, Maria-Ceù Moreira, Sandra Klur, Mohamed Yahyaoui, Yves Agid, Michel Koenig, Giovanni Stevanin, Alexis Brice, Alexandra Dür. Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients. Brain : a journal of neurology. vol 127. issue Pt 4. 2004-05-20. PMID:14736755. |
frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients. |
2004-05-20 |
2023-08-12 |
Not clear |
| Isabelle Le Ber, Naïma Bouslam, Sophie Rivaud-Péchoux, João Guimarães, Ali Benomar, Céline Chamayou, Cyril Goizet, Maria-Ceù Moreira, Sandra Klur, Mohamed Yahyaoui, Yves Agid, Michel Koenig, Giovanni Stevanin, Alexis Brice, Alexandra Dür. Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients. Brain : a journal of neurology. vol 127. issue Pt 4. 2004-05-20. PMID:14736755. |
ataxia with oculomotor apraxia type 2 (aoa2) is a newly described autosomal recessive cerebellar ataxia (arca) defined by genetic location to 9q34 of three families sharing gait ataxia, oculomotor apraxia and/or elevated alpha-foetoprotein (afp) levels. |
2004-05-20 |
2023-08-12 |
Not clear |
| Isabelle Le Ber, Naïma Bouslam, Sophie Rivaud-Péchoux, João Guimarães, Ali Benomar, Céline Chamayou, Cyril Goizet, Maria-Ceù Moreira, Sandra Klur, Mohamed Yahyaoui, Yves Agid, Michel Koenig, Giovanni Stevanin, Alexis Brice, Alexandra Dür. Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients. Brain : a journal of neurology. vol 127. issue Pt 4. 2004-05-20. PMID:14736755. |
this study shows for the first time that aoa2 can be found in europe, north africa and the west indies, and its relative frequency represents approximately 8% of non-friedreich arca, which is more frequent than ataxia telangiectasia and ataxia with oculomotor apraxia type 1 (aoa1), in our series of adult patients. |
2004-05-20 |
2023-08-12 |
Not clear |
| Michel Koeni. Rare forms of autosomal recessive neurodegenerative ataxia. Seminars in pediatric neurology. vol 10. issue 3. 2004-03-08. PMID:14653406. |
examples of ataxia with sensory-motor polyneuropathy include ataxia with oculomotor apraxia 1 and 2 and spinocerebellar ataxia with neuropathy 1. |
2004-03-08 |
2023-08-12 |
Not clear |
| Takao Hashimoto, Osamu Sasaki, Kunihiro Yoshida, Yo-ichi Takei, Shu-ichi Iked. Periodic alternating nystagmus and rebound nystagmus in spinocerebellar ataxia type 6. Movement disorders : official journal of the Movement Disorder Society. vol 18. issue 10. 2004-02-23. PMID:14534930. |
we report on a family with ataxia type 6 (sca6) showing peculiar oculomotor symptoms. |
2004-02-23 |
2023-08-12 |
Not clear |
| Isabelle Le Ber, Maria-Ceù Moreira, Sophie Rivaud-Péchoux, Céline Chamayou, François Ochsner, Thierry Kuntzer, Marc Tardieu, Gérard Saïd, Marie-Odile Habert, Geneviève Demarquay, Christian Tannier, Jean-Marie Beis, Alexis Brice, Michel Koenig, Alexandra Dür. Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies. Brain : a journal of neurology. vol 126. issue Pt 12. 2003-12-12. PMID:14506070. |
ataxia with ocular motor apraxia type 1 (aoa1) is an autosomal recessive cerebellar ataxia (arca) associated with oculomotor apraxia, hypoalbuminaemia and hypercholesterolaemia. |
2003-12-12 |
2023-08-12 |
Not clear |
| Isabelle Le Ber, Maria-Ceù Moreira, Sophie Rivaud-Péchoux, Céline Chamayou, François Ochsner, Thierry Kuntzer, Marc Tardieu, Gérard Saïd, Marie-Odile Habert, Geneviève Demarquay, Christian Tannier, Jean-Marie Beis, Alexis Brice, Michel Koenig, Alexandra Dür. Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies. Brain : a journal of neurology. vol 126. issue Pt 12. 2003-12-12. PMID:14506070. |
the presence of chorea, sensorimotor neuropathy, oculomotor anomalies, biological abnormalities, cerebellar atrophy on mri and absence of the babinski sign can help to distinguish aoa1 from friedreich's ataxia on a clinical basis. |
2003-12-12 |
2023-08-12 |
Not clear |
| Ergun Y Uc, Robert L Rodnitzk. Juvenile parkinsonism. Seminars in pediatric neurology. vol 10. issue 1. 2003-11-19. PMID:12785749. |
in most cases of jp, parkinsonism is accompanied by other neurologic features, such as dystonia, cognitive impairment, seizures, oculomotor and visual dysfunction, and ataxia. |
2003-11-19 |
2023-08-12 |
Not clear |
| Jennifer A Gillen, Gordon N Dutto. Balint's syndrome in a 10-year-old male. Developmental medicine and child neurology. vol 45. issue 5. 2003-05-15. PMID:12729150. |
this included a spatial disorder of attention (simultanagnosia), defective hand and foot movements under visual control (optic ataxia), and acquired oculomotor apraxia which are consistent with balint's syndrome. |
2003-05-15 |
2023-08-12 |
Not clear |
| M-C Kim, B C Son, Y Miyagi, J-K Kan. Vim thalamotomy for Holmes' tremor secondary to midbrain tumour. Journal of neurology, neurosurgery, and psychiatry. vol 73. issue 4. 2002-10-23. PMID:12235320. |
additional neurological findings included oculomotor palsy and ataxia of the left arm. |
2002-10-23 |
2023-08-12 |
Not clear |
| S A Broadley, J Taylor, H M Waddy, P D Thompso. The clinical and MRI correlate of ischaemia in the ventromedial midbrain: Claude's syndrome. Journal of neurology. vol 248. issue 12. 2002-05-29. PMID:12013587. |
the eponymous syndrome of claude is caused by a lesion of the red nucleus and adjacent third nerve nucleus, resulting in the combination of an ipsilateral oculomotor palsy and contralateral ataxia. |
2002-05-29 |
2023-08-12 |
Not clear |
| S Di Donato, C Gellera, C Mariott. The complex clinical and genetic classification of inherited ataxias. II. Autosomal recessive ataxias. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. vol 22. issue 3. 2002-02-06. PMID:11731874. |
refsum's disease, spastic ataxia, infantile onset spinocerebellar ataxia, and ataxia with oculomotor apraxia. |
2002-02-06 |
2023-08-12 |
Not clear |
| S H Ying, J C Jen, R W Balo. Similar oculomotor phenotypes in episodic ataxia type 2 and spinocerebellar atrophy type 6. Annals of the New York Academy of Sciences. vol 942. 2001-12-07. PMID:11710502. |
similar oculomotor phenotypes in episodic ataxia type 2 and spinocerebellar atrophy type 6. |
2001-12-07 |
2023-08-12 |
Not clear |
| H Date, O Onodera, H Tanaka, K Iwabuchi, K Uekawa, S Igarashi, R Koike, T Hiroi, T Yuasa, Y Awaya, T Sakai, T Takahashi, H Nagatomo, Y Sekijima, I Kawachi, Y Takiyama, M Nishizawa, N Fukuhara, K Saito, S Sugano, S Tsuj. Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene. Nature genetics. vol 29. issue 2. 2001-12-04. PMID:11586299. |
given the similarities of the clinical presentations to those of the recently described ataxia with oculomotor apraxia (aoa) linked to chromosome 9p13, we confirmed that the disorder of our patients is also linked to the same locus. |
2001-12-04 |
2023-08-12 |
Not clear |
| M C Moreira, C Barbot, N Tachi, N Kozuka, P Mendonça, J Barros, P Coutinho, J Sequeiros, M Koeni. Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity. American journal of human genetics. vol 68. issue 2. 2001-03-08. PMID:11170899. |
ataxia with oculomotor apraxia (aoa) is characterized by early-onset cerebellar ataxia, ocular apraxia, early areflexia, late peripheral neuropathy, slow progression, severe motor handicap, and absence of both telangiectasias and immunodeficiency. |
2001-03-08 |
2023-08-12 |
Not clear |
| A H Németh, E Bochukova, E Dunne, S M Huson, J Elston, M A Hannan, M Jackson, C J Chapman, A M Taylo. Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34. American journal of human genetics. vol 67. issue 5. 2000-12-14. PMID:11022012. |
ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome [aoa]; mim 208920) is an autosomal recessive disorder characterized by ataxia, oculomotor apraxia, and choreoathetosis. |
2000-12-14 |
2023-08-12 |
Not clear |
| M F Mende. Corticobasal ganglionic degeneration with Balint's syndrome. The Journal of neuropsychiatry and clinical neurosciences. vol 12. issue 2. 2000-09-15. PMID:11001609. |
this report describes a patient with cbgd who developed balint's syndrome with simultanagnosia, oculomotor apraxia, and optic ataxia. |
2000-09-15 |
2023-08-12 |
Not clear |
| N Buttner, D Geschwind, J C Jen, S Perlman, S M Pulst, R W Balo. Oculomotor phenotypes in autosomal dominant ataxias. Archives of neurology. vol 55. issue 10. 1998-11-25. PMID:9779665. |
oculomotor phenotypes in autosomal dominant ataxias. |
1998-11-25 |
2023-08-12 |
Not clear |
| R Bataller, J M Salmerón, J E Muñoz, V Obach, J I Elizalde, A Mas, E Tolosa, J Teré. [Pyloric stenosis complicated by Wernicke-Korsakoff syndrome]. Gastroenterologia y hepatologia. vol 20. issue 3. 1997-05-23. PMID:9162533. |
the wernicke-korsakoff syndrome (wks) is a picture of oculomotor alterations, ataxia and confusion presented in chronic alcoholics. |
1997-05-23 |
2023-08-12 |
Not clear |
| S Spieker, J B Schulz, D Petersen, M Fetter, T Klockgether, J Dichgan. Fixation instability and oculomotor abnormalities in Friedreich's ataxia. Journal of neurology. vol 242. issue 8. 1996-01-29. PMID:8530980. |
fixation instability and oculomotor abnormalities in friedreich's ataxia. |
1996-01-29 |
2023-08-12 |
Not clear |