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Journal articles on the topic 'Autosomal recessive spastic ataxia of Charlevoix-Saguenay'

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Published: 4 June 2021

Last updated: 3 February 2022

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1

Narayanan, Vinodh, Stephen G. Rice, Shannon S. Olfers, and Kumaraswamy Sivakumar. "Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay." Journal of Child Neurology 26, no. 12 (July 10, 2011): 1585–89. http://dx.doi.org/10.1177/0883073811412825.

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Mutations of the SACS gene have been reported in patients with autosomal recessive spastic ataxia of Charlevoix-Saguenay from Canada (Quebec), Tunisia, Japan, Turkey, Belgium, Italy, Spain, the Netherlands, and Germany. Features that distinguish autosomal recessive spastic ataxia of Charlevoix-Saguenay from other recessive ataxias include sensory motor polyneuropathy and hypermyelinated retinal nerve fibers. We describe the clinical, electrophysiological, and radiological features in 2 white American siblings diagnosed with autosomal recessive spastic ataxia of Charlevoix-Saguenay. The 2 affected children are compound heterozygotes for nonsense mutations of the SACS gene (c. 3484 G>T, p. E 1162 X; and c. 11,707 C>T, p. R 3903 X). We have measured allele-specific SACS mRNA abundance in peripheral blood and show that these specific mutant mRNAs are not degraded. We suggest that in children with early onset cerebellar ataxia and spasticity, ophthalmological examination and nerve conduction testing may guide genetic testing.

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Bong, Jeong Bin, Seung Woo Kim, Seung-Tae Lee, Jong Rak Choi, and Ha Young Shin. "Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay." Journal of the Korean Neurological Association 37, no. 1 (February 1, 2019): 69–72. http://dx.doi.org/10.17340/jkna.2019.1.13.

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3

Bouchard, Jean-Pierre, Andrea Richter, Jean Mathieu, Denis Brunet, Thomas J. Hudson, Kenneth Morgan, and Serge B. Melançon. "Autosomal recessive spastic ataxia of Charlevoix–Saguenay." Neuromuscular Disorders 8, no. 7 (October 1998): 474–79. http://dx.doi.org/10.1016/s0960-8966(98)00055-8.

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4

Van Damme, P., P. Demaerel, W. Spileers, and W. Robberecht. "Autosomal recessive spastic ataxia of Charlevoix-Saguenay." Neurology 72, no. 20 (May 18, 2009): 1790. http://dx.doi.org/10.1212/wnl.0b013e3181a60a9a.

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5

Takiyama, Yoshihisa. "Autosomal recessive spastic ataxia of Charlevoix-Saguenay." Neuropathology 26, no. 4 (August 2006): 368–75. http://dx.doi.org/10.1111/j.1440-1789.2006.00664.x.

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6

Bouchard, Jean-Pierre, Jean Mathieu, Andrea Richter, Thomas J. Hudson, Ken Morgan, and Serge B. Melançon. "Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)." Neuromuscular Disorders 7, no. 6-7 (September 1997): 468. http://dx.doi.org/10.1016/s0960-8966(97)87328-2.

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7

Kamada, S., S. Okawa, T. Imota, M. Sugawara, and I. Toyoshima. "Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)." Journal of Neurology 255, no. 6 (May 19, 2008): 803–6. http://dx.doi.org/10.1007/s00415-008-0672-6.

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8

Bouhlal, Yosr, Rim Amouri, Ghada El Euch-Fayeche, and Fayçal Hentati. "Autosomal recessive spastic ataxia of Charlevoix–Saguenay: An overview." Parkinsonism & Related Disorders 17, no. 6 (July 2011): 418–22. http://dx.doi.org/10.1016/j.parkreldis.2011.03.005.

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9

Biswas, Asthik, Mugil Varman, Sangeetha Yoganathan, Patel Khushboo Subhash, and Sunithi Mani. "Teaching NeuroImages: Autosomal recessive spastic ataxia of Charlevoix-Saguenay." Neurology 90, no. 14 (April 2, 2018): e1271-e1272. http://dx.doi.org/10.1212/wnl.0000000000005252.

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10

Karuvath, Rosmi Hassan, Sriram Patwari, and Harsha Chadaga. "Case 293: Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay." Radiology 300, no. 3 (September 2021): 730–32. http://dx.doi.org/10.1148/radiol.2021203053.

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11

Pedroso, J. L., P. Braga-Neto, A. Abrahão, R. L. M. Rivero, C. Abdalla, N. Abdala, and O. G. P. Barsottini. "Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): typical clinical and neuroimaging features in a Brazilian family." Arquivos de Neuro-Psiquiatria 69, no. 2b (2011): 288–91. http://dx.doi.org/10.1590/s0004-282x2011000300004.

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Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterized by late-infantile onset spastic ataxia and other neurological features. ARSACS has a high prevalence in northeastern Quebec, Canada. Several ARSACS cases have been reported outside Canada in recent decades. This is the first report of typical clinical and neuroimaging features in a Brazilian family with probable diagnosis of ARSACS.

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12

Deshpande, Anirudda, Supriya Khardenavis, and Suresh Pandi. "Case report of autosomal recessive spastic ataxia of Charlevoix-Saguenay." Journal of Mahatma Gandhi Institute of Medical Sciences 19, no. 1 (2014): 62. http://dx.doi.org/10.4103/0971-9903.126253.

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13

Incecik, Faruk, OzlemM Hergüner, and Atil Bisgin. "Autosomal-recessive spastic ataxia of Charlevoix-Saguenay: A Turkish child." Journal of Pediatric Neurosciences 13, no. 3 (2018): 355. http://dx.doi.org/10.4103/jpn.jpn_8_18.

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14

Nethisinghe, Suran, Lisa Clayton, Sascha Vermeer, J. Paul Chapple, Mary Reilly, Fion Bremner, and Paola Giunti. "Retinal Imaging in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay." Neuro-Ophthalmology 35, no. 4 (July 27, 2011): 197–201. http://dx.doi.org/10.3109/01658107.2011.595043.

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15

Shah, Christopher T., Tyson S. Ward, Julie A. Matsumoto, and Yevgeniy Shildkrot. "Foveal hypoplasia in autosomal recessive spastic ataxia of Charlevoix-Saguenay." Journal of American Association for Pediatric Ophthalmology and Strabismus 20, no. 1 (February 2016): 81–83. http://dx.doi.org/10.1016/j.jaapos.2015.10.007.

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16

Burguêz, Daniela, Camila Maria de Oliveira, Marcio Aloísio Bezerra Cavalcanti Rockenbach, Helena Fussiger, Leonardo Modesti Vedolin, Pablo Brea Winckler, Marcelo Krieger Maestri, et al. "Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil." Arquivos de Neuro-Psiquiatria 75, no. 6 (June 2017): 339–44. http://dx.doi.org/10.1590/0004-282x20170044.

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ABSTRACT Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset, neurodegenerative disorder caused by mutations in SACS, firstly reported in Quebec, Canada. The disorder is typically characterized by childhood onset ataxia, spasticity, neuropathy and retinal hypermyelination. The clinical picture of patients born outside Quebec, however, is often atypical. In the present article, the authors describe clinical and neuroradiological findings that raised the suspicion of an ARSACS diagnosis in two female cousins with Germanic background from Rio Grande do Sul, Brazil. We present a review on the neuroimaging, ophthalmologic and neurophysiologic clues for ARSACS diagnosis. The early-onset, slowly progressive, spastic-ataxia phenotype of reported patients was similar to ARSACS patients from Quebec. The SACS sequencing revealed the novel homozygous c.5150_5151insA frameshift mutation confirming the ARSACS diagnosis. ARSACS is a frequent cause of early onset ataxia/spastic-ataxia worldwide, with unknown frequency in Brazil.

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17

Ouyang, Y., Y. Takiyama, K. Sakoe, H. Shimazaki, T. Ogawa, S. Nagano, Y. Yamamoto, and I. Nakano. "Sacsin-related ataxia (ARSACS): Expanding the genotype upstream from the gigantic exon." Neurology 66, no. 7 (April 10, 2006): 1103–4. http://dx.doi.org/10.1212/01.wnl.0000204300.94261.ea.

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The authors describe a Japanese autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) patient with a compound heterozygous mutation (32627-32636delACACTGTTAC and 31760delT) in a new exon of the SACS gene. The new exons upstream of the gigantic one should be analyzed when a case is clinically compatible with ARSACS, even without any mutation in the gigantic exon.

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18

Vingolo, E. M., R. Di Fabio, S. Salvatore, G. Grieco, E. Bertini, V. Leuzzi, C. Nesti, et al. "Myelinated retinal fibers in autosomal recessive spastic ataxia of Charlevoix-Saguenay." European Journal of Neurology 18, no. 9 (January 25, 2011): 1187–90. http://dx.doi.org/10.1111/j.1468-1331.2010.03335.x.

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19

Parkinson, Michael H., Ana P. Bartmann, Lisa M. S. Clayton, Suran Nethisinghe, Rolph Pfundt, J. Paul Chapple, Mary M. Reilly, et al. "Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay." Brain 141, no. 4 (March 12, 2018): 989–99. http://dx.doi.org/10.1093/brain/awy028.

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20

Sánchez, Marta González, Jesús Esteban Pérez, María Rabasa Pérez, and Alberto García Redondo. "Novel SACS mutation in autosomal recessive spastic ataxia of Charlevoix-Saguenay." Journal of the Neurological Sciences 358, no. 1-2 (November 2015): 475–76. http://dx.doi.org/10.1016/j.jns.2015.08.032.

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21

Finsterer, Josef. "Ataxias with Autosomal, X-Chromosomal or Maternal Inheritance." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 36, no. 4 (July 2009): 409–28. http://dx.doi.org/10.1017/s0317167100007733.

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Heredoataxias are a group of genetic disorders with a cerebellar syndrome as the leading clinical manifestation. The current classification distinguishes heredoataxias according to the trait of inheritance into autosomal dominant, autosomal recessive, X-linked, and maternally inherited heredoataxias. The autosomal dominant heredoataxias are separated into spinocerebellar ataxias (SCA1-8, 10-15, 17-23, 25-30, and dentato-rubro-pallido-luysian atrophy), episodic ataxias (EA1-7), and autosomal dominant mitochondrial heredoataxias (Leigh syndrome, MIRAS, ADOAD, and AD-CPEO). The autosomal recessive ataxias are separated into Friedreich ataxia, ataxia due to vitamin E deficiency, ataxia due to Abeta-lipoproteinemia, Refsum disease, late-onset Tay-Sachs disease, cerebrotendineous xanthomatosis, spinocerebellar ataxia with axonal neuropathy, ataxia telangiectasia, ataxia telangiectasia-like disorder, ataxia with oculomotor apraxia 1 and 2, spastic ataxia of Charlevoix-Saguenay, Cayman ataxia, Marinesco-Sjögren syndrome, and autosomal recessive mitochondrial ataxias (AR-CPEO, SANDO, SCAE, AHS, IOSCA, MEMSA, LBSL CoQ-deficiency, PDC-deficiency). Only two of the heredoataxias, fragile X/tremor/ataxia syndrome, and XLSA/A are transmitted via an X-linked trait. Maternally inherited heredoataxias are due to point mutations in genes encoding for tRNAs, rRNAs, respiratory chain subunits or single large scale deletions/duplications of the mitochondrial DNA and include MELAS, MERRF, KSS, PS, MILS, NARP, and non-syndromic mitochondrial disorders. Treatment of heredoataxias is symptomatic and supportive and may have a beneficial effect in single patients.**Please see page 424 for abbreviation list.

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22

Palmio, J., S. Penttilä, J. Moilanen, M. Kärppä, and B. Udd. "A new family with autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS)." Neuromuscular Disorders 25 (October 2015): S223. http://dx.doi.org/10.1016/j.nmd.2015.06.141.

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23

Jung, J. W., B. J. Ahn, H. Y. Shin, and H. N. Jeong. "A case of autosomal recessive spastic ataxia of Charlevoix-Saguenay in Korea." Journal of the Neurological Sciences 381 (October 2017): 306–7. http://dx.doi.org/10.1016/j.jns.2017.08.871.

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24

Briand, Marie-Michèle, Xavier Rodrigue, Isabelle Lessard, Jean Mathieu, Bernard Brais, Isabelle Côté, and Cynthia Gagnon. "Expanding the clinical description of autosomal recessive spastic ataxia of Charlevoix-Saguenay." Journal of the Neurological Sciences 400 (May 2019): 39–41. http://dx.doi.org/10.1016/j.jns.2019.03.008.

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25

Grieco, G. S., A. Malandrini, G. Comanducci, V. Leuzzi, M. Valoppi, A. Tessa, S. Palmeri, et al. "Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type." Neurology 62, no. 1 (January 12, 2004): 103–6. http://dx.doi.org/10.1212/01.wnl.0000104491.66816.77.

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26

Kwon, Kyum-Yil, Kuhl Huh, Baik-Lin Eun, Han-Wook Yoo, Eric-Jan Kamsteeg, Hans Scheffer, and Seong-Beom Koh. "A Probable Korean Case of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 42, no. 4 (May 15, 2015): 271–73. http://dx.doi.org/10.1017/cjn.2015.38.

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27

Gücüyener, K., Köksal Özgül, Caroline Paternotte, H. Erdem, J. F. Prud'homme, M. Özgüç, and H. Topaloğlu. "Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay in Two Unrelated Turkish Families." Neuropediatrics 32, no. 3 (June 2001): 142–46. http://dx.doi.org/10.1055/s-2001-16616.

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28

Thiffault, I., M. J. Dicaire, M. Tetreault, K. N. Huang, J. Demers-Lamarche, G. Bernard, A. Duquette, et al. "Diversity of ARSACS Mutations in French-Canadians." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 40, no. 1 (January 2013): 61–66. http://dx.doi.org/10.1017/s0317167100012968.

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Abstract:Background:The growing number of spastic ataxia of Charlevoix-Saguenay (SACS) gene mutations reported worldwide has broadened the clinical phenotype of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). The identification of Quebec ARSACS cases without two knownSACSmutation led to the development of a multi-modal genomic strategy to uncover mutations in this large gene and explore phenotype variability.Methods:Search forSACSmutations by combining various methods on 20 cases with a classical French-Canadian ARSACS phenotype without two mutations and a group of 104 sporadic or recessive spastic ataxia cases of unknown cause. Western blot on lymphoblast protein from cases with different genotypes was probed to establish if they still expressed sacsin.Results:A total of 12 mutations, including 7 novels, were uncovered in Quebec ARSACS cases. The screening of 104 spastic ataxia cases of unknown cause for 98SACSmutations did not uncover carriers of two mutations. Compounds heterozygotes for one missenseSACSmutation were found to minimally express sacsin.Conclusions:The large number ofSACSmutations present even in Quebec suggests that the size of the gene alone may explain the great genotypic diversity. This study does not support an expanding ARSACS phenotype in the French-Canadian population. Most mutations lead to loss of function, though phenotypic variability in other populations may reflect partial loss of function with preservation of some sacsin expression. Our results also highlight the challenge ofSACSmutation screening and the necessity to develop new generation sequencing methods to ensure low cost complete gene sequencing.

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29

Menon, MSuraj, CVelayudhan Shaji, KAbdulkhayar Kabeer, and G. Parvathy. "SACS gene-related autosomal recessive spastic ataxia of Charlevoix-Saguenay from South India." Archives of Medicine and Health Sciences 4, no. 1 (2016): 122. http://dx.doi.org/10.4103/2321-4848.183359.

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30

De Braekeleer, M., F. Giasson, J. Mathieu, M. Roy, J. P. Bouchard, and K. Morgan. "Genetic epidemiology of autosomal recessive spastic ataxia of Charlevoix-Saguenay in northeastern Quebec." Genetic Epidemiology 10, no. 1 (1993): 17–25. http://dx.doi.org/10.1002/gepi.1370100103.

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31

Criscuolo, Chiara, C. Procaccini, M. C. Meschini, A. Cianflone, R. Carbone, S. Doccini, D. Devos, et al. "Powerhouse failure and oxidative damage in autosomal recessive spastic ataxia of Charlevoix-Saguenay." Journal of Neurology 262, no. 12 (November 3, 2015): 2755–63. http://dx.doi.org/10.1007/s00415-015-7911-4.

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32

Gagnon, Cynthia, Isabelle Lessard, Caroline Lavoie, Isabelle Côté, Raphaël St-Gelais, Jean Mathieu, and Bernard Brais. "An exploratory natural history of ataxia of Charlevoix-Saguenay." Neurology 91, no. 14 (August 29, 2018): e1307-e1311. http://dx.doi.org/10.1212/wnl.0000000000006290.

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ObjectiveTo document the decline of upper and lower limb functions, mobility, and independence in daily living activities in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) over a 2-year period.MethodsAn exploratory longitudinal design was used. Nineteen participants were assessed on 2 occasions 2 years apart. Assessments included the Standardized Finger Nose Test, Nine-Hole Peg Test, Lower Extremity Motor Coordination Test, Berg Balance Scale, 10-m walk test (10mWT), 6-minute walk test (6MWT), Scale for the Assessment and Rating of Ataxia (SARA), and Barthel Index.ResultsA significant decline was observed between baseline and follow-up for lower limb coordination, balance, walking abilities (10mWT and 6MWT), and overall disease severity (SARA). All differences were beyond measurement error documented in ARSACS. Results showed no significant decline for upper limb coordination and fine dexterity performance.ConclusionAlthough ARSACS is a slow, progressive disease, results showed that mobility, balance, and lower limb performance significantly decreased over the 2-year period and that selected outcome measures were able to capture this decline beyond measurement errors.

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33

Silvestri, Gabriella, Marcella Masciullo, and Filippo M. Santorelli. "Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay in the Time of Next-Generation Sequencing." Archives of Neurology 69, no. 12 (December 1, 2012): 1661. http://dx.doi.org/10.1001/2013.jamaneurol.70.

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34

Pilliod, Julie, Sébastien Moutton, Julie Lavie, Elise Maurat, Christophe Hubert, Nadège Bellance, Mathieu Anheim, et al. "New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay." Annals of Neurology 78, no. 6 (November 14, 2015): 871–86. http://dx.doi.org/10.1002/ana.24509.

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35

Mercier, Jocelyne, Claude Prévost, James C. Engert, Jean-Pierre Bouchard, Jean Mathieu, and Andrea Richter. "Rapid Detection of the Sacsin Mutations Causing Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay." Genetic Testing 5, no. 3 (September 2001): 255–59. http://dx.doi.org/10.1089/10906570152742326.

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36

Larivière, Roxanne, Rébecca Gaudet, Benoit J. Gentil, Martine Girard, Talita Cristiane Conte, Sandra Minotti, Kim Leclerc-Desaulniers, et al. "Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay." Human Molecular Genetics 24, no. 3 (September 26, 2014): 727–39. http://dx.doi.org/10.1093/hmg/ddu491.

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37

Brassard, Kevin, Geneviève Forgues, Allexe Boivin-Mercier, and Cynthia Gagnon. "Applicability of Neuropsychological and Psychometric Tests in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)." Neuropsychologie clinique et appliquée 2, Fall 2018 (2018): 53–67. http://dx.doi.org/10.46278/j.ncacn.20180622.

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Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) is a degenerative spinocerebellar disease with pyramidal, cerebellar, and neuropathic impairments. Recent studies highlight possible deficits in cognitive functions like language. Psychometric tests selection implies careful consideration due to upper limbs incoordination and dysarthria. The objective of this study is to document the applicability of 37 neuropsychological and 2 psychological tests in 8 individuals with ARSACS aged between 20 and 60 years. All tests were rated on 4 applicability criteria using a 3-level rating scale: A for excellent; B for acceptable; C for reconsider. Most tests posed few or no applicability limits with ARSACS patients. However, certain tests (e.g., Leiter-3 and Raven’s Standard Progressive Matrices) are not recommended due to significant issues related to applicability. These results may help clinicians and researchers working with this population to select evaluations and tests applicable in this population.

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38

Martin, M. H., J. P. Bouchard, M. Sylvain, O. St-Onge, and S. Truchon. "Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: A Report of MR Imaging in 5 Patients." American Journal of Neuroradiology 28, no. 8 (September 1, 2007): 1606–8. http://dx.doi.org/10.3174/ajnr.a0603.

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Pensabene, Maria Claudia, Milena Melis, Laura De Corato, Carla Di Stefano, Giulia Pizzicannella, Mariateresa Mondillo, Andrea Amico, Doriana Tatulli, and Roberto Floris. "Autosomal recessive spastic ataxia of charlevoix-saguenay: Findings from MRI in two adult Italian siblings." Radiology Case Reports 15, no. 5 (May 2020): 507–10. http://dx.doi.org/10.1016/j.radcr.2019.12.024.

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40

Krygier, Magdalena, Agnieszka Konkel, Michał Schinwelski, Małgorzata Rydzanicz, Anna Walczak, Magdalena Sildatke-Bauer, Rafał Płoski, and Jarosław Sławek. "Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) – A Polish family with novel SACS mutations." Neurologia i Neurochirurgia Polska 51, no. 6 (November 2017): 481–85. http://dx.doi.org/10.1016/j.pjnns.2017.08.003.

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41

Girard, M., R. Lariviere, D. A. Parfitt, E. C. Deane, R. Gaudet, N. Nossova, F. Blondeau, et al. "Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)." Proceedings of the National Academy of Sciences 109, no. 5 (January 17, 2012): 1661–66. http://dx.doi.org/10.1073/pnas.1113166109.

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42

Pyle, Angela, Rita Horvath, and Patrick F. Chinnery. "Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay in the Time of Next-Generation Sequencing—Reply." Archives of Neurology 69, no. 12 (December 1, 2012): 1661. http://dx.doi.org/10.1001/2013.jamaneurol.389.

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43

Gagnon, Cynthia, Johanne Desrosiers, and Jean Mathieu. "Autosomal recessive spastic ataxia of Charlevoix-Saguenay: upper extremity aptitudes, functional independence and social participation." International Journal of Rehabilitation Research 27, no. 3 (September 2004): 253–56. http://dx.doi.org/10.1097/00004356-200409000-00013.

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44

Synofzik, Matthis, Anne S. Soehn, Janina Gburek-Augustat, Julia Schicks, Kathrin N. Karle, Rebecca Schüle, Tobias B. Haack, et al. "Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum." Orphanet Journal of Rare Diseases 8, no. 1 (2013): 41. http://dx.doi.org/10.1186/1750-1172-8-41.

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45

Richter, Andrea M., Riza Koksal Ozgul, Virginie C. Poisson, and Haluk Topaloglu. "Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey." Neurogenetics 5, no. 3 (May 20, 2004): 165–70. http://dx.doi.org/10.1007/s10048-004-0179-y.

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Sahin, Turgut, Fatma Tugra Karaarslan, Rezzak Yilmaz, Şeyma Tekgül, Ayşe Nazlı Başak, and Muhittin Cenk Akbostanci. "Two cases of early-onset autosomal recessive spastic ataxia of Charlevoix-Saguenay diagnosed in adulthood." Clinical Neurology and Neurosurgery 201 (February 2021): 106423. http://dx.doi.org/10.1016/j.clineuro.2020.106423.

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Petrov, Igor. "Novel Mutation in SACS Gene in a Patient with Autosomal Recessive Spastic Ataxia Charlevoix‐Saguenay." Movement Disorders Clinical Practice 8, no. 6 (June 22, 2021): 963–65. http://dx.doi.org/10.1002/mdc3.13216.

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Cho, Hyuna, Chul Hyoung Lyoo, Sung Eun Park, Yuri Seo, Sueng-Han Han, and Jinu Han. "Optical Coherence Tomography Findings Facilitate the Diagnosis of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay." Korean Journal of Ophthalmology 35, no. 4 (August 5, 2021): 330–31. http://dx.doi.org/10.3341/kjo.2021.0032.

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Zeng, Hui, Jian-Guang Tang, Yi-Feng Yang, Zhi-Ping Tan, and Jie-Qiong Tan. "A Novel Homozygous SACS Mutation Identified by Whole-Exome Sequencing in a Consanguineous Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay." Cytogenetic and Genome Research 152, no. 1 (2017): 16–21. http://dx.doi.org/10.1159/000477428.

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Abstract:

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a hereditary neurological disorder mostly manifested with a classical triad: progressive early-onset cerebellar ataxia, lower limb pyramidal signs, and peripheral neuropathy. We employed whole-exome sequencing and bioinformatics to identify the genetic cause in an ARSACS patient from a consanguineous family. Based on whole-exome sequences of the patient and her healthy parents, a novel homozygous deletion variant (NM_014363: c.9495_9508del; p.F3166Tfs*9) in the SACS gene was identified in the patient. This frameshift mutation is predicted to generate a truncated sacsin protein, which results in the loss of the C-terminal 1,406 amino acids. Our study provides a potential genetic diagnosis for the patient and expands the spectrum of SACS mutations.

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Oguz, K. K., G. Haliloglu, C. Temucin, R. Gocmen, A. C. Has, K. Doerschner, A. Dolgun, and M. Alikasifoglu. "Assessment of Whole-Brain White Matter by DTI in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay." American Journal of Neuroradiology 34, no. 10 (April 18, 2013): 1952–57. http://dx.doi.org/10.3174/ajnr.a3488.

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