Is the ataxia of Charlevoix-Saguenay a developmental disease?

Medical Hypotheses

Volumn 77, Issue 3, 2011, Pages 347-352

  Gazulla, José ^a   Vela, Ana Carmen ^a   Marín, Miguel Angel ^a   Pablo, Luis ^a   Santorelli, Filippo Maria ^b   Benavente, Isabel ^c   Modrego, Pedro ^a   Tintoré, María ^d   Berciano, José ^e  

^a HOSPITAL UNIVERSITARIO MIGUEL SERVET   (Spain)

^b DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^c HOSPITAL SAN JORGE   (Spain)

^d INSTITUTE FOR RESEARCH IN BIOMEDICINE   (Spain)

^e HOSPITAL UNIVERSITARIO MARQUÉS DE VALDECILLA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTAMIC ACID;

ADULT; ARTICLE; ATAXIA; AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX SAGUENAY; CEREBELLUM ATROPHY; CLINICAL ARTICLE; CLINICAL EXAMINATION; DEGENERATIVE DISEASE; EXCITOTOXICITY; EYE EXAMINATION; FEMALE; HUMAN; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; OPTIC DISK; PERIPHERAL NEUROPATHY; VISUAL FIELD DEFECT;

ADULT; CEREBELLUM; DIFFUSION TENSOR IMAGING; HEAT-SHOCK PROTEINS; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUSCLE SPASTICITY; MUTATION; OPTIC DISK; SEQUENCE ANALYSIS, DNA; SPINOCEREBELLAR ATAXIAS;

EID: 80051816465     PISSN: 03069877     EISSN: 15322777     Source Type: Journal    
DOI: 10.1016/j.mehy.2011.05.011     Document Type: Article

References (36)

1. Bouchard J.P., Richter A., Mathieu J., et al. Autosomal recessive ataxia of Charlevoix-Saguenay. Neuromusc Dis 1998, 8:100-102.
2. Criscuolo C., Banfi S., Orio M., et al. A novel mutation in SACS gene in a family from southern Italy. Neurology 2004, 62:100-102.
3. Terracciano A., Foulds N.C., Ditchfield A., et al. Pseudodominant inheritance of spastic ataxia of Charlevoix-Saguenay. Neurology 2010, 74:1152-1154.
4. García A., Criscuolo C., De Michele G., Berciano J. Neurophysiological study in a spanish family with recessive spastic ataxia of Charlevoix-Saguenay. Muscle Nerve 2008, 37:107-110.
5. Bouchard J.P. Recessive spastic ataxia of Charlevoix-Saguenay. Handbook of Clinical Neurology. Hereditary Neuropathies and Spinocerebellar Atrophies 1991, vol. 16:452-559. Elsevier Science, Amsterdam.
6. Bouchard J.P., Barbeau A., Bouchard R., Bouchard R.W. Autosomal recessive spastic ataxia of Charlevoix-Saguenay. Can J Neurol Sci 1978, 5:61-69.
7. Bouchard J.P., Barbeau A., Bouchard R., Bouchard R.W. Electromyography and nerve conduction studies in Friedreich's ataxia and autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). Can J Neurol Sci 1978, 6:185-189.
8. Bouchard J.P., Brais B., Dupré N., Rouleau G.A. Hereditary Ataxias and Spastic Parapareses in Northeastern Canada. Spinocerebellar Degenerations. The Ataxias and Spastic Paraplegias 2007, 222-243. Butterworth Heinemann Elsevier, Philadelphia.
9. Bouchard J.P., Richter A., Melançon S.B., Mathieu J., Michaud J. Autosomal Recessive Spastic Ataxia (Charlevoix-Saguenay). Handbook of Ataxia Disorders 2000, 311-324. Marcel Dekker, New York.
10. Hara K., Onodera O., Endo E., et al. Sacsin-related autosomal recessive ataxia without prominent myelinated fibers in Japan. Mov Disord 2005, 20:380-382.
11. Shimazaki H., Sakoe K., Niijima K., Nakano I., Takiyama Y. An unusual case of a spasticity-lacking phenotype with a novel SACS mutation. J Neurol Sci 2007, 255:87-89.
12. Baets J., Deconinck T., Smets K., et al. Mutations in SACS cause atypical and late-onset forms of ARSACS. Neurology 2010, 75:1181-1188.
13. Vermeer S., Meijer R.P.P., Pijl B.J., et al. ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia. Neurogenetics 2008, 9:207-214.
14. Martin M.H., Bouchard J.P., Sylvain St.-Onge.O., Truchon S. Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a report of MR imaging in 5 patients. Am J Neuroradiol 2007, 28:1606-1608.
15. Mandelli M.L., De Simone T., Minati L., et al. Diffusion tensor imaging of spinocerebellar ataxias types 1 and 2. AJNR Am J Neuroradiol 2007, 28:1996-2000.
16. Taoka T., Kin T., Nakagawa H., et al. Diffusivity and diffusion anisotropy of cerebellar peduncles in cases of spinocerebellar degenerative disease. Neuroimage 2007, 37:387-393.
17. Ying S.H., Landman B.A., Chowdhury S., et al. Orthogonal diffusion-weighted MRI measures distinguish region-specific degeneration in cerebellar ataxia subtypes. J Neurol 2009, 256:1939-1942.
18. Ottersen O.P., Walberg F. Neurotransmitters in the cerebellum. The cerebellum and its disorders 2002, 38-48. Cambridge University Press, Cambridge. M.U. Manto, M. Pandolfo (Eds.).
19. Albin R.L., Greenamyre J.T. Alternative excitotoxic hypotheses. Neurology 1992, 42:733-738.
20. Lipton S.A., Rosenberg P.A. Excitatory amino acids as a final common pathway for neurological disorders. N Engl J Med 1994, 330:613-622.
21. Schorge S., van de Leemput J., Singleton A., Houlden H., Hardy J. Human ataxias: a genetic dissection of inositol triphosphate receptor (ITPR1)-dependent signaling. Trends Neurosci 2010, 33:211-219.
22. García-Martin E., Pinilla I., Idoipe M., Fuertes I., Pueyo V. Intra and interoperator reproducibility of retinal nerve fiber and macular thickness measurements using Cirrus Fourier-domain OCT. Acta Ophthalmol 2011, 89:23-29.
23. Pascual-Castroviejo I., Pascual-Pascual S.I., Viaño J., Martínez V. Ataxia espástica recesiva tipo Charlevoix-Saguenay. Presentación de un caso español. Rev Neurol 2000, 31:36-38.
24. El-Euch-Fayache G., Lalani I., Amouiri R., et al. Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia. Arch Neurol 2003, 60:982-988.
25. Takiyama Y. Autosomal recessive spastic ataxia of Charlevoix-Saguenay. Neuropathology 2006, 26:368-375.
26. Takiyama Y. Sacsinopathies: sacsin-related ataxia. Cerebellum 2007, 6:353-359.
27. Gerwig M., Krüger S., Kreuz F.R., Kreis S., Gizewski E.R., Timmann D. Characteristic MRI and funduscopic findings help diagnose ARSACS outside Quebec. Neurology 2010, 75:2133.
28. Mrissa N., Belal S., Ben Hamida C., et al. Linkage to chromosome 13q11-13 of an autosomal recessive cerebellar ataxia in a Tunisian family. Neurology 2000, 54:1403-1414.
29. Criscuolo C., Saccà F., De Michele G., et al. Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia. Mov Disord 2005, 20:1358-1361.
30. Grieco G.S., Malandrini A., Commanducci G., et al. Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type. Neurology 2004, 62:103-106.
31. Okawa S., Sugawara M., Watanabe S., Toyoshima I. A novel sacsin mutation in a Japanese woman showing clinical uniformity of autosomal recessive spastic ataxia of Charlevoix-Saguenay. J Neurol Neurosurg Psychiatry 2006 Feb, 77:280-282.
32. Ouyang Y., Segers K., Bouquiaux O., et al. Novel SACS mutations in a Belgian family with sacsin-related ataxia. J Neurol Sci 2008, 264:73-76.
33. Engert J.C., Berube P., Mercier J., et al. ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF. Nat Genet 2000, 24:120-125.
34. Ouyang Y., Takiyama Y., Sakoe K., et al. Sacsin-related ataxia (ARSACS): expanding the genotype from the gigantic exon. Neurology 2006, 66:1103-1104.
35. Landrieu P., Kamoun F. Au carrefour de la pathologie développementale et de la pathologie dégénérative: les maladies cérébelleuses de la première enfance. Démembrement et approche pratique. Rev Neurol 2003, 159:382-394.
36. Peyronnard J.M., Charron L., Barbeau A. The neuropathy of Charlevoix-Saguenay ataxia: an electrophysiological and pathological study. Can J Neurol Sci 1979, 6:199-203.