[1]
|
Velazquez-Perez, L., Rodriguez-Labrada, R., Garcia-Rodriguez, J.C., et al. (2011) A Comprehensive Review of Spino-cerebellar Ataxia Type 2 in Cuba. Cerebellum, 10, 184-198. https://doi.org/10.1007/s12311-011-0265-2
|
[2]
|
Durr, A. (2010) Autosomal Dominant Cerebellar Ataxias: Polyglutamine Expansions and Beyond. The Lancet Neurology, 9, 885-894. https://doi.org/10.1016/S1474-4422(10)70183-6
|
[3]
|
Duenas, A.M., Goold, R. and Giunti, P. (2006) Molecular pathogenesis of Spinocerebellar Ataxias. Brain, 129, 1357-1370.
https://doi.org/10.1093/brain/awl081
|
[4]
|
Paulson, H.L. (2009) The Spinocerebellar Ataxias. Journal of Neu-ro-Ophthalmology, 29, 227-237.
https://doi.org/10.1097/WNO0b013e3181b416de
|
[5]
|
Schols, L., Bauer, P., Schmidt, T., et al. (2004) Autosomal Dominant Cerebellar Ataxias: Clinical Features, Genetics, and Pathogenesis. The Lancet Neurology, 3, 291-304. https://doi.org/10.1016/S1474-4422(04)00737-9
|
[6]
|
Wadia, N.H. and Swami, R.K. (1971) A New Form of He-redo-Familial Spinocerebellar Degeneration with Slow Eye Movements (Nine Families). Brain, 94, 359-374. https://doi.org/10.1093/brain/94.2.359
|
[7]
|
Alonso, E., Martinez-Ruano, L., De Biase, I., et al. (2007) Distinct Distribution of Autosomal Dominant Spinocerebellar Ataxia in the Mexican Population. Movement Disorders, 22, 1050-1053. https://doi.org/10.1002/mds.21470
|
[8]
|
Sulek-Piatkowska, A., Zdzienicka, E., Raczynska-Rakowicz, M., et al. (2010) The Occurrence of Spinocerebellar Ataxias Caused by Dynamic Mutations in Polish Patients. Neurolo-gia i Neurochirurgia Polska, 44, 238-245.
https://doi.org/10.1016/S0028-3843(14)60037-2
|
[9]
|
Gispert, S., Twells, R., Orozco, G., et al. (1993) Chromo-somal Assignment of the Second Locus for Autosomal Dominant Cerebellar Ataxia (SCA2) to Chromosome 12q23-24.1. Nature Genetics, 4, 295-299.
https://doi.org/10.1038/ng0793-295
|
[10]
|
Imbert, G., Saudou, F., Yvert, G., et al. (1996) Cloning of the Gene for Spinocerebellar Ataxia 2 Reveals a Locus with High Sensitivity to Expanded CAG/Glutamine Repeats. Nature Genetics, 14, 285-291.
https://doi.org/10.1038/ng1196-285
|
[11]
|
Pulst, S.M., Nechiporuk, A., Nechiporuk, T., et al. (1996) Moderate Ex-pansion of a Normally Biallelic Trinucleotide Repeat in Spinocerebellar Ataxia Type 2. Nature Genetics, 14, 269-276. https://doi.org/10.1038/ng1196-269
|
[12]
|
Sanpei, K., Takano, H., Igarashi, S., et al. (1996) Identification of the Spinocerebellar Ataxia Type 2 Gene Using a Direct Identification of Repeat Expansion and Cloning Technique, DIRECT. Nature Genetics, 14, 277-284.
https://doi.org/10.1038/ng1196-277
|
[13]
|
Velazquez, P.L., Cruz, G.S., Santos, F.N., et al. (2009) Molecular Epide-miology of Spinocerebellar Ataxias in Cuba: Insights into SCA2 Founder Effect in Holguin. Neuroscience Letters, 454, 157-160.
https://doi.org/10.1016/j.neulet.2009.03.015
|
[14]
|
Cancel, G., Durr, A., Didierjean, O., et al. (1997) Molecular and Clinical Correlations in Spinocerebellar Ataxia 2: A Study of 32 Families. Human Molecular Genetics, 6, 709-715. https://doi.org/10.1093/hmg/6.5.709
|
[15]
|
Geschwind, D.H., Perlman, S., Figueroa, C.P., et al. (1997) The Preva-lence and Wide Clinical Spectrum of the Spinocerebellar Ataxia Type 2 Trinucleotide Repeat in Patients with Autosomal Dominant Cerebellar Ataxia. The American Journal of Human Genetics, 60, 842-850.
|
[16]
|
Di Fabio, R., Santorelli, F., Bertini, E., et al. (2012) Infantile Childhood Onset of Spinocerebellar Ataxia Type 2. Cerebellum, 11, 526-530. https://doi.org/10.1007/s12311-011-0315-9
|
[17]
|
Amarante, T., Takeda, S., Teive, H., et al. (2017) Impact of Dis-ease Duration on Functional Status of Patients with Spinocerebellar Ataxia Type 2. Arquivos de Neuro-Psiquiatria, 75, 773-777.
https://doi.org/10.1590/0004-282x20170146
|
[18]
|
Estrada, R., Galarraga, J., Orozco, G., et al. (1999) Spino-cerebellar Ataxia 2 (SCA2): Morphometric Analyses in 11 Autopsies. Acta Neuropathologica, 97, 306-310. https://doi.org/10.1007/s004010050989
|
[19]
|
Martin, J.J., Krols, L., Ceuterick, C., et al. (1994) On an Autosomal Dominant Form of Retinal-Cerebellar Degeneration: An Autopsy Study of Five Patients in One Family. Acta Neuropa-thologica, 88, 277-286.
https://doi.org/10.1007/BF00310370
|
[20]
|
Marzi, C., Ciulli, S., Giannelli, M., et al. (2018) Structural Complexity of the Cerebellum and Cerebral Cortex Is Reduced in Spinocerebellar Ataxia Type 2. Journal of Neuroimaging, 28, 688-693. https://doi.org/10.1111/jon.12534
|
[21]
|
Mascalchi, M. and Vella, A. (2018) Neuroimaging Applications in Chronic Ataxias. International Review of Neurobiology, 143, 109-162. https://doi.org/10.1016/bs.irn.2018.09.011
|
[22]
|
Reetz, K., Rodriguez-Labrada, R., Dogan, I., et al. (2018) Brain Atrophy Measures in Preclinical and Manifest Spinocerebellar Ataxia Type 2. Annals of Clinical and Translational Neu-rology, 5, 128-137.
https://doi.org/10.1002/acn3.504
|
[23]
|
Yoshii, F., Tomiyasu, H., Watanabe, R., et al. (2017) MRI Signal Abnormal-ities of the Inferior Olivary Nuclei in Spinocerebellar Ataxia Type 2. Case Reports in Neurology, 9, 267-271. https://doi.org/10.1159/000481303
|
[24]
|
Orozco, G., Estrada, R., Perry, T.L., et al. (1989) Dominantly Inherited Olivopontocerebellar Atrophy from Eastern Cuba. Clinical, Neuropathological, and Biochemical Findings. Journal of the Neurological Sciences, 93, 37-50.
https://doi.org/10.1016/0022-510X(89)90159-7
|
[25]
|
Egorova, P.A. and Bezprozvanny, I.B. (2019) Molecular Mechanisms and Therapeutics for Spinocerebellar Ataxia Type 2. Neurotherapeutics, 16, 1050-1073. https://doi.org/10.1007/s13311-019-00777-6
|
[26]
|
Kim, Y.E., Jeon, B., Farrer, M.J., et al. (2017) SCA2 Family Presenting as Typical Parkinson’s Disease: 34 Year Follow Up. Parkinsonism & Related Disorders, 40, 69-72. https://doi.org/10.1016/j.parkreldis.2017.04.003
|
[27]
|
Sasaki, H., Fukazawa, T., Wakisaka, A., et al. (1996) Central Phenotype and Related Varieties of Spinocerebellar Ataxia 2 (SCA2): A Clinical and Genetic Study with a Pedigree in the Japanese. Journal of the Neurological Sciences, 144, 176-181. https://doi.org/10.1016/S0022-510X(96)00225-0
|
[28]
|
Gwinn-Hardy, K., Chen, J.Y., Liu, H.C., et al. (2000) Spinocerebellar Ataxia Type 2 with Parkinsonism in Ethnic Chinese. Neurology, 55, 800-805. https://doi.org/10.1212/WNL.55.6.800
|
[29]
|
Lu, C., Chang, H., Kuo, P., et al. (2004) The Parkinsonian Phenotype of Spinocerebellar Ataxia Type 3 in a Taiwanese Family. Parkinsonism & Related Disorders, 10, 369-373. https://doi.org/10.1016/j.parkreldis.2004.03.009
|
[30]
|
Shan, D.E., Liu, R.S., Sun, C.M., et al. (2004) Presence of Spinocerebellar Ataxia Type 2 Gene Mutation in a Patient with Apparently Sporadic Parkinson’s Disease: Clinical Impli-cations. Movement Disorders, 19, 1357-1360.
https://doi.org/10.1002/mds.20212
|
[31]
|
Auburger, G.W. (2012) Spinocerebellar Ataxia Type 2. In: Handbook of Clinical Neurology, Vol. 103, Elsevier, Amsterdam, 423-436. https://doi.org/10.1016/B978-0-444-51892-7.00026-7
|
[32]
|
Perez-Avila, I., Fernandez-Vieitez, J.A., Martinez-Gongora, E., et al. (2004) Effects of a Physical Training Program on Quantitative Neurological Indices in Mild Stage Type 2 Spinocerebelar Ataxia Patients. Revue Neurologique, 39, 907-910.
https://doi.org/10.33588/rn.3910.2004331
|
[33]
|
Scoles, D.R. and Pulst, S.M. (2018) Spinocerebellar Ataxia Type 2. In: Nóbrega, C. and de Almeida, L.P., Eds., Polyglutamine Disorders, Advances in Experimental Medicine and Biology, Vol. 1049, Springer, Berlin, 175-195.
https://doi.org/10.1007/978-3-319-71779-1_8
|