Skip to main content
Erschienen in: Journal of Neurology 5/2012

01.05.2012 | Original Communication

New findings in the ataxia of Charlevoix–Saguenay

verfasst von: José Gazulla, Isabel Benavente, Ana Carmen Vela, Miguel Angel Marín, Luis Emilio Pablo, Alessandra Tessa, María Rosario Barrena, Filippo Maria Santorelli, Claudia Nesti, Pedro Modrego, María Tintoré, José Berciano

Erschienen in: Journal of Neurology | Ausgabe 5/2012

Einloggen, um Zugang zu erhalten

Abstract

The aim of the study was to enhance our understanding of the pathogenesis of the ataxia of Charlevoix–Saguenay, based on the findings presented herein. Five patients with a molecular diagnosis of this disease underwent clinical, radiological, ophthalmologic and electrophysiological examinations. Five novel mutations, which included nonsense and missense variants, were identified, with these resulting in milder phenotypes. In addition to the usual manifestations, a straight dorsal spine was found in every case, and imaging techniques showed loss of the dorsal kyphosis. Cranial MRI demonstrated hypointense linear striations at the pons. Tensor diffusion MRI sequences revealed that these striations corresponded with hyperplastic pontocerebellar fibres, and tractographic sequences showed interrupted pyramidal tracts at the pons. Ocular coherence tomography demonstrated abnormal thickness of the nerve fibre layer. Electrophysiological studies showed nerve conduction abnormalities compatible with a dysmyelinating neuropathy, with signs of chronic denervation in distal muscles. The authors suggest that the hyperplastic pontocerebellar fibres compress the pyramidal tracts at the pons, and that the amount of retinal fibres traversing the optic discs is enlarged. These facts point to the contribution of an abnormal developmental mechanism in the ataxia of Charlevoix–Saguenay. Accordingly, spasticity would be mediated by compression of the pyramidal tracts, neuromuscular symptoms by secondary axonal degeneration superimposed on the peripheral myelinopathy, while the cause of the progressive ataxia remains speculative. The distinctive aspect of the dorsal spine could be of help in the clinical diagnosis.
Literatur
1.
Zurück zum Zitat Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR (2010) A method and server for predicting damaging missense mutations. Nat Methods 7:248–249PubMedCrossRef Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR (2010) A method and server for predicting damaging missense mutations. Nat Methods 7:248–249PubMedCrossRef
2.
3.
Zurück zum Zitat Anderson JF, Siller E, Barral JM (2010) The sacsin repeating region (SSR): a novel HSP90-related supra-domain associated with neurodegeneration. J Mol Biol 400:665–674PubMedCrossRef Anderson JF, Siller E, Barral JM (2010) The sacsin repeating region (SSR): a novel HSP90-related supra-domain associated with neurodegeneration. J Mol Biol 400:665–674PubMedCrossRef
4.
Zurück zum Zitat Anesi L, de Gemmis P, Pandolfo M, Hladnik U (2010) Two novel homozygous SACS mutations in unrelated patients including the first reported case of parental UPD as an etiologic cause of ARSACS. J Mol Neurosci 43:346–349PubMedCrossRef Anesi L, de Gemmis P, Pandolfo M, Hladnik U (2010) Two novel homozygous SACS mutations in unrelated patients including the first reported case of parental UPD as an etiologic cause of ARSACS. J Mol Neurosci 43:346–349PubMedCrossRef
5.
Zurück zum Zitat Baets J, Deconinck T, Smets K, Goosens D, Van den Bergh P, Dahan K, Schmedding E, Santens P, Rasic VM, Van Damme P, Robberecht W, De Meirleir L, Michielsens B, Del-Favero J, Jordanova A, De Jonghe P (2010) Mutations in SACS cause atypical and late-onset forms of ARSACS. Neurology 75:1181–1188PubMedCrossRef Baets J, Deconinck T, Smets K, Goosens D, Van den Bergh P, Dahan K, Schmedding E, Santens P, Rasic VM, Van Damme P, Robberecht W, De Meirleir L, Michielsens B, Del-Favero J, Jordanova A, De Jonghe P (2010) Mutations in SACS cause atypical and late-onset forms of ARSACS. Neurology 75:1181–1188PubMedCrossRef
6.
Zurück zum Zitat Berciano J, García A, Infante J (2010) Peripheral nerve involvement in hereditary cerebellar and multisystem degenerative disorders. In: Said G, Krarup C (eds) Peripheral Nerve Disorders. Handbook of Clinical Neurology. Elsevier Sci, Amsterdam (in press) Berciano J, García A, Infante J (2010) Peripheral nerve involvement in hereditary cerebellar and multisystem degenerative disorders. In: Said G, Krarup C (eds) Peripheral Nerve Disorders. Handbook of Clinical Neurology. Elsevier Sci, Amsterdam (in press)
7.
Zurück zum Zitat Bouchard JP (1991) Recessive spastic ataxia of Charlevoix-Saguenay. In: de Jong JMBV (ed) Handbook of Clinical Neurology. Hereditary neuropathies and spinocerebellar atrophies, vol 60. Elsevier Sci, Amsterdam, pp 452–559 Bouchard JP (1991) Recessive spastic ataxia of Charlevoix-Saguenay. In: de Jong JMBV (ed) Handbook of Clinical Neurology. Hereditary neuropathies and spinocerebellar atrophies, vol 60. Elsevier Sci, Amsterdam, pp 452–559
8.
Zurück zum Zitat Bouchard JP, Barbeau A, Bouchard R, Bouchard RW (1978) Autosomal recessive spastic ataxia of Charlevoix-Saguenay. Can J Neurol Sci 5:61–69PubMed Bouchard JP, Barbeau A, Bouchard R, Bouchard RW (1978) Autosomal recessive spastic ataxia of Charlevoix-Saguenay. Can J Neurol Sci 5:61–69PubMed
9.
Zurück zum Zitat Bouchard JP, Brais B, Dupré N, Rouleau GA (2007) Hereditary ataxias and spastic parapareses in north eastern Canada. In: Brice A, Pulst SM (eds) Spinocerebellar Degenerations. The ataxias and spastic paraplegias. Butterworth Heinemann Elsevier, Philadelphia, pp 222–243CrossRef Bouchard JP, Brais B, Dupré N, Rouleau GA (2007) Hereditary ataxias and spastic parapareses in north eastern Canada. In: Brice A, Pulst SM (eds) Spinocerebellar Degenerations. The ataxias and spastic paraplegias. Butterworth Heinemann Elsevier, Philadelphia, pp 222–243CrossRef
10.
Zurück zum Zitat Bouchard JP, Richter A, Melançon SB, Mathieu J, Michaud J (2000) Autosomal recessive spastic ataxia (Charlevoix-Saguenay). In: Klockgether T (ed) Handbook of ataxia disorders. Marcel Dekker, New York, pp 311–324 Bouchard JP, Richter A, Melançon SB, Mathieu J, Michaud J (2000) Autosomal recessive spastic ataxia (Charlevoix-Saguenay). In: Klockgether T (ed) Handbook of ataxia disorders. Marcel Dekker, New York, pp 311–324
11.
Zurück zum Zitat Bouhlal Y, Amouri R, El Euch-Fayache G, Hentati F (2011) Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview. Parkinsonism Relat Disord 17:418–422PubMedCrossRef Bouhlal Y, Amouri R, El Euch-Fayache G, Hentati F (2011) Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview. Parkinsonism Relat Disord 17:418–422PubMedCrossRef
12.
Zurück zum Zitat Criscuolo C, Banfi S, Orio M, Gasparini P, Monticelli A, Scarano V, Banfi S, Filla A (2004) A novel mutation in SACS gene in a family from southern Italy. Neurology 62:100–102PubMedCrossRef Criscuolo C, Banfi S, Orio M, Gasparini P, Monticelli A, Scarano V, Banfi S, Filla A (2004) A novel mutation in SACS gene in a family from southern Italy. Neurology 62:100–102PubMedCrossRef
13.
Zurück zum Zitat Desserre J, Devos D, Sautière BG, Debruyne P, Santorelli FM, Vuillaume I, Defoort-Dhellemmes S (2011). Thickening of Peripapillar Retinal Fibers for the Diagnosis of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. Cerebellum. doi:10.1007/s12311-011-0286-x Desserre J, Devos D, Sautière BG, Debruyne P, Santorelli FM, Vuillaume I, Defoort-Dhellemmes S (2011). Thickening of Peripapillar Retinal Fibers for the Diagnosis of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. Cerebellum. doi:10.​1007/​s12311-011-0286-x
14.
Zurück zum Zitat El-Euch-Fayache G, Lalani I, Amouiri R, Turki I, Ouahchi K, Hung WY, Belal S, Siddique T, Hentati F (2003) Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia. Arch Neurol 60:982–988PubMedCrossRef El-Euch-Fayache G, Lalani I, Amouiri R, Turki I, Ouahchi K, Hung WY, Belal S, Siddique T, Hentati F (2003) Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia. Arch Neurol 60:982–988PubMedCrossRef
15.
Zurück zum Zitat Engert JC, Berube P, Mercier J, Dore C, Lepage P, Ge B, Bouchard JP, Mathieu J, Melançon SB, Schalling M, Lander ES, Morgan K, Hudson TJ, Richter A (2000) ARSACS, a spastic ataxia common in north eastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF. Nat Genet 24:120–125PubMedCrossRef Engert JC, Berube P, Mercier J, Dore C, Lepage P, Ge B, Bouchard JP, Mathieu J, Melançon SB, Schalling M, Lander ES, Morgan K, Hudson TJ, Richter A (2000) ARSACS, a spastic ataxia common in north eastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF. Nat Genet 24:120–125PubMedCrossRef
16.
Zurück zum Zitat García A, Criscuolo C, De Michele G, Berciano J (2008) Neurophysiological study in a Spanish family with recessive spastic ataxia of Charlevoix-Saguenay. MuscleNerve 37:107–110 García A, Criscuolo C, De Michele G, Berciano J (2008) Neurophysiological study in a Spanish family with recessive spastic ataxia of Charlevoix-Saguenay. MuscleNerve 37:107–110
17.
Zurück zum Zitat García-Martin E, Pinilla I, Idoipe M, Fuertes I, Pueyo V (2010). Intra and interoperator reproducibility of retinal nerve fiber and macular thickness measurements using cirrus Fourier-domain OCT. Acta Ophthalmol. doi:10.1111/j.1755-3768.2010.02045.x García-Martin E, Pinilla I, Idoipe M, Fuertes I, Pueyo V (2010). Intra and interoperator reproducibility of retinal nerve fiber and macular thickness measurements using cirrus Fourier-domain OCT. Acta Ophthalmol. doi:10.​1111/​j.​1755-3768.​2010.​02045.​x
18.
Zurück zum Zitat Hattori N, Yamamoto M, Yoshihara T, Koike H, Nakagawa M, Yoshikawa H, Ohnishi A, Hayasaka K, Onodera O, Baba M, Yasuda H, Saito T, Nakashima K, Kira J, Kaji R, Oka N, Sobue G, the Study Group for Hereditary Neuropathy in Japan (2003) Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients. Brain 126:134–151PubMedCrossRef Hattori N, Yamamoto M, Yoshihara T, Koike H, Nakagawa M, Yoshikawa H, Ohnishi A, Hayasaka K, Onodera O, Baba M, Yasuda H, Saito T, Nakashima K, Kira J, Kaji R, Oka N, Sobue G, the Study Group for Hereditary Neuropathy in Japan (2003) Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients. Brain 126:134–151PubMedCrossRef
19.
Zurück zum Zitat Landrieu P, Kamoun F (2003) Au carrefour de la pathologie développementale et de la pathologie dégénérative: les maladies cérébelleuses de la première enfance. Démembrement et approche pratique. Rev Neurol 159:382–394PubMed Landrieu P, Kamoun F (2003) Au carrefour de la pathologie développementale et de la pathologie dégénérative: les maladies cérébelleuses de la première enfance. Démembrement et approche pratique. Rev Neurol 159:382–394PubMed
20.
Zurück zum Zitat Lewis RA, Sumner AJ (1999) Electrophysiologic features of inherited demyelinating neuropathies: a reappraisal. Ann NY Acad Sci 883:321–335PubMedCrossRef Lewis RA, Sumner AJ (1999) Electrophysiologic features of inherited demyelinating neuropathies: a reappraisal. Ann NY Acad Sci 883:321–335PubMedCrossRef
21.
Zurück zum Zitat Lipton SA, Rosenberg PA (1994) Excitatory amino acids as a final common pathway for neurological disorders. N Engl J Med 330:613–622PubMedCrossRef Lipton SA, Rosenberg PA (1994) Excitatory amino acids as a final common pathway for neurological disorders. N Engl J Med 330:613–622PubMedCrossRef
22.
Zurück zum Zitat Mandelli ML, De Simone T, Minati L, Bruzzone MG, Mariotti C, Fancellu R, Savoiardo M, Grisoli M (2007) Diffusion tensor imaging of spinocerebellar ataxias types 1 and 2. Am J Neuroradiol 28:1996–2000PubMedCrossRef Mandelli ML, De Simone T, Minati L, Bruzzone MG, Mariotti C, Fancellu R, Savoiardo M, Grisoli M (2007) Diffusion tensor imaging of spinocerebellar ataxias types 1 and 2. Am J Neuroradiol 28:1996–2000PubMedCrossRef
23.
Zurück zum Zitat Martin MH, Bouchard JP, Sylvain M, St-Onge O, Truchon S (2007) Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a report of MR imaging in 5 patients. Am J Neuroradiol 28:1606–1608PubMedCrossRef Martin MH, Bouchard JP, Sylvain M, St-Onge O, Truchon S (2007) Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a report of MR imaging in 5 patients. Am J Neuroradiol 28:1606–1608PubMedCrossRef
24.
Zurück zum Zitat Martini R (2001) The effect of myelinating Schwann cells on axons. MuscleNerve 24:456–466 Martini R (2001) The effect of myelinating Schwann cells on axons. MuscleNerve 24:456–466
25.
Zurück zum Zitat Okawa S, Sugawara M, Watanabe S, Toyoshima I (2006) A novel sacsin mutation in a Japanese woman showing clinical uniformity of autosomal recessive spastic ataxia of Charlevoix-Saguenay. J Neurol Neurosurg Psychiatry 77:280–282PubMedCrossRef Okawa S, Sugawara M, Watanabe S, Toyoshima I (2006) A novel sacsin mutation in a Japanese woman showing clinical uniformity of autosomal recessive spastic ataxia of Charlevoix-Saguenay. J Neurol Neurosurg Psychiatry 77:280–282PubMedCrossRef
26.
Zurück zum Zitat Ottersen OP, Walberg F (2002) Neurotransmitters in the cerebellum. In: Manto MU, Pandolfo M (eds) The cerebellum and its disorders. Cambridge University Press, Cambridge, pp 38–48 Ottersen OP, Walberg F (2002) Neurotransmitters in the cerebellum. In: Manto MU, Pandolfo M (eds) The cerebellum and its disorders. Cambridge University Press, Cambridge, pp 38–48
27.
Zurück zum Zitat Ouyang Y, Takiyama Y, Sakoe K, Shimazaki H, Ogawa T, Nagano S, Yamamoto Y, Nakano I (2006) Sacsin-related ataxia (ARSACS): expanding the genotype from the gigantic exon. Neurology 66:1103–1104PubMedCrossRef Ouyang Y, Takiyama Y, Sakoe K, Shimazaki H, Ogawa T, Nagano S, Yamamoto Y, Nakano I (2006) Sacsin-related ataxia (ARSACS): expanding the genotype from the gigantic exon. Neurology 66:1103–1104PubMedCrossRef
28.
Zurück zum Zitat Ouyang Y, Segers K, Bouquiaux O, Wang FC, Janin N, Andris C, Shimazaki H, Sakoe K, Nakano I, Takiyama Y (2008) Novel SACS mutations in a Belgian family with sacsin-related ataxia. J Neurol Sci 264:73–76PubMedCrossRef Ouyang Y, Segers K, Bouquiaux O, Wang FC, Janin N, Andris C, Shimazaki H, Sakoe K, Nakano I, Takiyama Y (2008) Novel SACS mutations in a Belgian family with sacsin-related ataxia. J Neurol Sci 264:73–76PubMedCrossRef
29.
Zurück zum Zitat Pablo LE, García-Martín E, Gazulla J, Larrosa JM, Ferreras A, Santorelli FM, Benavente I, Vela A, Marín MA (2011) Retinal nerve fiber hypertrophy in ataxia of Charlevoix-Saguenay patients. Mol Vis 17:1871–1876PubMed Pablo LE, García-Martín E, Gazulla J, Larrosa JM, Ferreras A, Santorelli FM, Benavente I, Vela A, Marín MA (2011) Retinal nerve fiber hypertrophy in ataxia of Charlevoix-Saguenay patients. Mol Vis 17:1871–1876PubMed
30.
Zurück zum Zitat Parfitt DA, Michael GJ, Vermeulen EGM, Prodromou NV, Webb TR, Gallo JM, Cheetham ME, Nicoll WS, Blatch GL, Chapple JP (2010) The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1. Human Mol Genet 18:1556–1565CrossRef Parfitt DA, Michael GJ, Vermeulen EGM, Prodromou NV, Webb TR, Gallo JM, Cheetham ME, Nicoll WS, Blatch GL, Chapple JP (2010) The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1. Human Mol Genet 18:1556–1565CrossRef
31.
Zurück zum Zitat Peyronnard JM, Charron L, Barbeau A (1979) The neuropathy of Charlevoix-Saguenay ataxia: an electrophysiological and pathological study. Can J Neurol Sci 6:199–203PubMed Peyronnard JM, Charron L, Barbeau A (1979) The neuropathy of Charlevoix-Saguenay ataxia: an electrophysiological and pathological study. Can J Neurol Sci 6:199–203PubMed
32.
Zurück zum Zitat Schorge S, van de Leemput J, Singleton A, Houlden H, Hardy J (2010) Human ataxias: a genetic dissection of inositol triphosphate receptor (ITPR1)-dependent signalling. Trends Neurosci 33:211–219PubMedCrossRef Schorge S, van de Leemput J, Singleton A, Houlden H, Hardy J (2010) Human ataxias: a genetic dissection of inositol triphosphate receptor (ITPR1)-dependent signalling. Trends Neurosci 33:211–219PubMedCrossRef
33.
Zurück zum Zitat Shimazaki H, Takiyama Y, Sakoe K, Ando Y, Nakano I (2005) A phenotype without spasticity in sacsin-related ataxia. Neurology 64:2129–2131PubMedCrossRef Shimazaki H, Takiyama Y, Sakoe K, Ando Y, Nakano I (2005) A phenotype without spasticity in sacsin-related ataxia. Neurology 64:2129–2131PubMedCrossRef
34.
Zurück zum Zitat Shimazaki H, Sakoe K, Niijima K, Nakano I, Takiyama Y (2007) An unusual case of a spasticity-lacking phenotype with a novel SACS mutation. J Neurol Sci 255:87–89PubMedCrossRef Shimazaki H, Sakoe K, Niijima K, Nakano I, Takiyama Y (2007) An unusual case of a spasticity-lacking phenotype with a novel SACS mutation. J Neurol Sci 255:87–89PubMedCrossRef
35.
Zurück zum Zitat Stanton M, Pannoni V, Lewis RA, Logigian EL, Naguib D, Shy ME, Cleland J, Herrmann DN (2006) Dispersion of compound muscle action potential in hereditary neuropathies and chronic inflammatory demyelinating polyneuropathy. MuscleNerve 34:417–422 Stanton M, Pannoni V, Lewis RA, Logigian EL, Naguib D, Shy ME, Cleland J, Herrmann DN (2006) Dispersion of compound muscle action potential in hereditary neuropathies and chronic inflammatory demyelinating polyneuropathy. MuscleNerve 34:417–422
36.
Zurück zum Zitat Tankisi H, Pugdahl K, Johnsen B, Fuglsang-Fredericksen A (2007) Correlations of nerve conduction measures in axonal and demyelinating polyneuropathies. Clin Neurophysiol 118:2383–2392PubMedCrossRef Tankisi H, Pugdahl K, Johnsen B, Fuglsang-Fredericksen A (2007) Correlations of nerve conduction measures in axonal and demyelinating polyneuropathies. Clin Neurophysiol 118:2383–2392PubMedCrossRef
37.
Zurück zum Zitat Taoka T, Kin T, Nakagawa H, Hirano M, Sakamoto M, Wada T, Takayama K, Wuttikul C, Iwasaki S, Ueno S, Kichikawa K (2007) Diffusivity and diffusion anisotropy of cerebellar peduncles in cases of spinocerebellar degenerative disease. Neuroimage 37:387–393PubMedCrossRef Taoka T, Kin T, Nakagawa H, Hirano M, Sakamoto M, Wada T, Takayama K, Wuttikul C, Iwasaki S, Ueno S, Kichikawa K (2007) Diffusivity and diffusion anisotropy of cerebellar peduncles in cases of spinocerebellar degenerative disease. Neuroimage 37:387–393PubMedCrossRef
38.
Zurück zum Zitat Terracciano A, Casali C, Grieco GS, Orteschi D, Di Giandomenico S, Seminara L, Di Fabio R, Carrozzo R, Simonati A, Stevanin G, Zollino M, Santorelli FM (2009) An inherited large scale rearrangement in SACS associated with spastic ataxia and hearing loss. Neurogenetics 10:151–155PubMedCrossRef Terracciano A, Casali C, Grieco GS, Orteschi D, Di Giandomenico S, Seminara L, Di Fabio R, Carrozzo R, Simonati A, Stevanin G, Zollino M, Santorelli FM (2009) An inherited large scale rearrangement in SACS associated with spastic ataxia and hearing loss. Neurogenetics 10:151–155PubMedCrossRef
39.
Zurück zum Zitat Vermeer S, Meijer RPP, Pijl BJ, Timmermans J, Cruysberg JRM, Bos MM, Schelhaas HJ, van de Warrenburg BP, Knoers NV, Scheffer H, Kremer B (2008) ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia. Neurogenetics 9:207–214PubMedCrossRef Vermeer S, Meijer RPP, Pijl BJ, Timmermans J, Cruysberg JRM, Bos MM, Schelhaas HJ, van de Warrenburg BP, Knoers NV, Scheffer H, Kremer B (2008) ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia. Neurogenetics 9:207–214PubMedCrossRef
40.
Zurück zum Zitat Vermeer S, Meijer RPP, Hofste TGJ, Bodmer D, Bosgoed EA, Cremers FP, Kremer BH, Knoers NV, Scheffer H (2009) Design and validation of a conformation sensitive capillary electrophoresis-based mutation scanning system and automated data analysis of the more than 15 kbp-spanning coding sequence of the SACS gene. J Mol Diagn 11:514–523PubMedCrossRef Vermeer S, Meijer RPP, Hofste TGJ, Bodmer D, Bosgoed EA, Cremers FP, Kremer BH, Knoers NV, Scheffer H (2009) Design and validation of a conformation sensitive capillary electrophoresis-based mutation scanning system and automated data analysis of the more than 15 kbp-spanning coding sequence of the SACS gene. J Mol Diagn 11:514–523PubMedCrossRef
41.
Zurück zum Zitat Vingolo EM, Di Fabio R, Salvatore S, Grieco G, Bertini E, Leuzzi V, Nesti C, Filla A, Tessa A, Pierelli F, Santorelli FM, Casali C (2011) Myelinated retinal fibers in autosomal recessive spastic ataxia of Charlevoix-Saguenay. Eur J Neurol 18:1187–1190PubMedCrossRef Vingolo EM, Di Fabio R, Salvatore S, Grieco G, Bertini E, Leuzzi V, Nesti C, Filla A, Tessa A, Pierelli F, Santorelli FM, Casali C (2011) Myelinated retinal fibers in autosomal recessive spastic ataxia of Charlevoix-Saguenay. Eur J Neurol 18:1187–1190PubMedCrossRef
42.
Zurück zum Zitat Yamamoto Y, Nakamori M, Konaka K, Nagano S, Shimazaki H, Takiyama Y, Sakoda S (2006) Sacsin-related ataxia caused by the novel nonsense mutation Arg4325X. J Neurol 253:1372–1373PubMedCrossRef Yamamoto Y, Nakamori M, Konaka K, Nagano S, Shimazaki H, Takiyama Y, Sakoda S (2006) Sacsin-related ataxia caused by the novel nonsense mutation Arg4325X. J Neurol 253:1372–1373PubMedCrossRef
43.
Zurück zum Zitat Ying SH, Landman BA, Chowdhury S, Sinofsky AH, Gambini A, Mori S, Zee DS, Prince JL (2009) Orthogonal diffusion-weighted MRI measures distinguish region-specific degeneration in cerebellar ataxia subtypes. J Neurol 256:1939–1942PubMedCrossRef Ying SH, Landman BA, Chowdhury S, Sinofsky AH, Gambini A, Mori S, Zee DS, Prince JL (2009) Orthogonal diffusion-weighted MRI measures distinguish region-specific degeneration in cerebellar ataxia subtypes. J Neurol 256:1939–1942PubMedCrossRef
Metadaten
Titel
New findings in the ataxia of Charlevoix–Saguenay
verfasst von
José Gazulla
Isabel Benavente
Ana Carmen Vela
Miguel Angel Marín
Luis Emilio Pablo
Alessandra Tessa
María Rosario Barrena
Filippo Maria Santorelli
Claudia Nesti
Pedro Modrego
María Tintoré
José Berciano
Publikationsdatum
01.05.2012
Verlag
Springer-Verlag
Erschienen in
Journal of Neurology / Ausgabe 5/2012
Print ISSN: 0340-5354
Elektronische ISSN: 1432-1459
DOI
https://doi.org/10.1007/s00415-011-6269-5

Weitere Artikel der Ausgabe 5/2012

Journal of Neurology 5/2012 Zur Ausgabe

Leitlinien kompakt für die Neurologie

Mit medbee Pocketcards sicher entscheiden.

Seit 2022 gehört die medbee GmbH zum Springer Medizin Verlag

Update Neurologie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.