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Published in: Neurological Sciences 7/2019

01-07-2019 | Paraneoplastic Cerebellar Degeneration | Review Article

Degenerative and acquired sporadic adult onset ataxia

Authors: Maria Lieto, Alessandro Roca, Filippo Maria Santorelli, Tommasina Fico, Giovanna De Michele, Marta Bellofatto, Francesco Saccà, Giuseppe De Michele, Alessandro Filla

Published in: Neurological Sciences | Issue 7/2019

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Abstract

The diagnosis of sporadic adult onset ataxia is a challenging task since a large collection of hereditary and non-hereditary disorders should be taken into consideration. Sporadic adult onset ataxias include degenerative non-hereditary, hereditary, and acquired ataxias. Multiple system atrophy and idiopathic late cerebellar ataxia are degenerative non-hereditary ataxias. Late-onset Friedreich’s ataxia, spinocerebellar ataxia type 6 and 2, and fragile X-associated tremor/ataxia syndrome account for most sporadic hereditary ataxias. Alcoholic cerebellar degeneration, paraneoplastic and other autoimmune cerebellar degeneration, vitamin deficiencies, and toxic-induced and infectious cerebellar syndrome are the main causes of acquired cerebellar degeneration. The diagnostic approach should include a history taking, disease progression, general and neurological examination, brain MRI, and laboratory and genetic tests. Novel opportunities in massive gene sequencing will increase the likelihood to define true etiologies.
Literature
1.
go back to reference Harding AE (1981) “Idiopathic” late onset cerebellar ataxia. A clinical and genetic study of 36 cases. J Neurol Sci 51(2):259–271CrossRefPubMed Harding AE (1981) “Idiopathic” late onset cerebellar ataxia. A clinical and genetic study of 36 cases. J Neurol Sci 51(2):259–271CrossRefPubMed
2.
go back to reference Giordano I, Harmuth F, Jacobi H, Paap B, Vielhaber S, Machts J, Schöls L, Synofzik M, Sturm M, Tallaksen C, Wedding IM, Boesch S, Eigentler A, van de Warrenburg B, van Gaalen J, Kamm C, Dudesek A, Kang JS, Timmann D, Silvestri G, Masciullo M, Klopstock T, Neuhofer C, Ganos C, Filla A, Bauer P, Tezenas du Montcel S, Klockgether T (2017) Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia. Neurology 89(10):1043–1049. https://doi.org/10.1212/WNL.0000000000004311 CrossRefPubMed Giordano I, Harmuth F, Jacobi H, Paap B, Vielhaber S, Machts J, Schöls L, Synofzik M, Sturm M, Tallaksen C, Wedding IM, Boesch S, Eigentler A, van de Warrenburg B, van Gaalen J, Kamm C, Dudesek A, Kang JS, Timmann D, Silvestri G, Masciullo M, Klopstock T, Neuhofer C, Ganos C, Filla A, Bauer P, Tezenas du Montcel S, Klockgether T (2017) Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia. Neurology 89(10):1043–1049. https://​doi.​org/​10.​1212/​WNL.​0000000000004311​ CrossRefPubMed
3.
go back to reference Gebus O, Montaut S, Monga B, Wirth T, Cheraud C, Alves Do Rego C, Zinchenko I, Carré G, Hamdaoui M, Hautecloque G, Nguyen-Them L, Lannes B, Chanson JB, Lagha-Boukbiza O, Fleury MC, Devys D, Nicolas G, Rudolf G, Bereau M, Mallaret M, Renaud M, Acquaviva C, Koenig M, Koob M, Kremer S, Namer IJ, Cazeneuve C, Echaniz-Laguna A, Tranchant C, Anheim M (2017) Deciphering the causes of sporadic late-onset cerebellar ataxias: a prospective study with implications for diagnostic work. J Neurol 264(6):1118–1126. https://doi.org/10.1007/s00415-017-8500-5 CrossRefPubMed Gebus O, Montaut S, Monga B, Wirth T, Cheraud C, Alves Do Rego C, Zinchenko I, Carré G, Hamdaoui M, Hautecloque G, Nguyen-Them L, Lannes B, Chanson JB, Lagha-Boukbiza O, Fleury MC, Devys D, Nicolas G, Rudolf G, Bereau M, Mallaret M, Renaud M, Acquaviva C, Koenig M, Koob M, Kremer S, Namer IJ, Cazeneuve C, Echaniz-Laguna A, Tranchant C, Anheim M (2017) Deciphering the causes of sporadic late-onset cerebellar ataxias: a prospective study with implications for diagnostic work. J Neurol 264(6):1118–1126. https://​doi.​org/​10.​1007/​s00415-017-8500-5 CrossRefPubMed
6.
go back to reference Gilman S, Little R, Johanns J, Heumann M, Kluin KJ, Junck L, Koeppe RA, An H (2000) Evolution of sporadic olivopontocerebellar atrophy into multiple system atrophy. Neurology 55(4):527–532CrossRefPubMed Gilman S, Little R, Johanns J, Heumann M, Kluin KJ, Junck L, Koeppe RA, An H (2000) Evolution of sporadic olivopontocerebellar atrophy into multiple system atrophy. Neurology 55(4):527–532CrossRefPubMed
8.
go back to reference Filla A, De Michele G, Cavalcanti F, Pianese L, Monticelli A, Campanella G, Cocozza S (1996) The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia. Am J Hum Genet 59(3):554–560PubMedPubMedCentral Filla A, De Michele G, Cavalcanti F, Pianese L, Monticelli A, Campanella G, Cocozza S (1996) The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia. Am J Hum Genet 59(3):554–560PubMedPubMedCentral
9.
go back to reference Klebe S, Depienne C, Gerber S, Challe G, Anheim M, Charles P, Fedirko E, Lejeune E, Cottineau J, Brusco A, Dollfus H, Chinnery PF, Mancini C, Ferrer X, Sole G, Destée A, Mayer JM, Fontaine B, Seze J, Clanet M, Ollagnon E, Busson P, Cazeneuve C, Stevanin G, Kaplan J, Rozet JM, Brice A, Durr A (2012) Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy. Brain 135(Pt 10:2980–2993. https://doi.org/10.1093/brain/aws240 CrossRefPubMedPubMedCentral Klebe S, Depienne C, Gerber S, Challe G, Anheim M, Charles P, Fedirko E, Lejeune E, Cottineau J, Brusco A, Dollfus H, Chinnery PF, Mancini C, Ferrer X, Sole G, Destée A, Mayer JM, Fontaine B, Seze J, Clanet M, Ollagnon E, Busson P, Cazeneuve C, Stevanin G, Kaplan J, Rozet JM, Brice A, Durr A (2012) Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy. Brain 135(Pt 10:2980–2993. https://​doi.​org/​10.​1093/​brain/​aws240 CrossRefPubMedPubMedCentral
10.
go back to reference van Gassen KL, van der Heijden CD, de Bot ST, den Dunnen WF, van den Berg LH, Verschuuren-Bemelmans CC, Kremer HP, Veldink JH, Kamsteeg EJ, Scheffer H, van de Warrenburg BP (2012) Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort. Brain 135(Pt 10:2994–3004. https://doi.org/10.1093/brain/aws224 CrossRefPubMed van Gassen KL, van der Heijden CD, de Bot ST, den Dunnen WF, van den Berg LH, Verschuuren-Bemelmans CC, Kremer HP, Veldink JH, Kamsteeg EJ, Scheffer H, van de Warrenburg BP (2012) Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort. Brain 135(Pt 10:2994–3004. https://​doi.​org/​10.​1093/​brain/​aws224 CrossRefPubMed
12.
go back to reference Apartis E, Blancher A, Meissner WG, Guyant-Marechal L, Maltete D, de Broucker T, Legrand AP, Bouzenada H, Thanh HT, Sallansonnet-Froment M, Wang A, Tison F, Roue-Jagot C, Sedel F, Charles P, Whalen S, Heron D, Thobois S, Poisson A, Lesca G, Ouvrard-Hernandez AM, Fraix V, Palfi S, Habert MO, Gaymard B, Dussaule JC, Pollak P, Vidailhet M, Durr A, Barbot JC, Gourlet V, Brice A, Anheim M (2012) FXTAS: new insights and the need for revised diagnostic criteria. Neurology 79(18):1898–1907. https://doi.org/10.1212/WNL.0b013e318271f7ff CrossRefPubMed Apartis E, Blancher A, Meissner WG, Guyant-Marechal L, Maltete D, de Broucker T, Legrand AP, Bouzenada H, Thanh HT, Sallansonnet-Froment M, Wang A, Tison F, Roue-Jagot C, Sedel F, Charles P, Whalen S, Heron D, Thobois S, Poisson A, Lesca G, Ouvrard-Hernandez AM, Fraix V, Palfi S, Habert MO, Gaymard B, Dussaule JC, Pollak P, Vidailhet M, Durr A, Barbot JC, Gourlet V, Brice A, Anheim M (2012) FXTAS: new insights and the need for revised diagnostic criteria. Neurology 79(18):1898–1907. https://​doi.​org/​10.​1212/​WNL.​0b013e318271f7ff​ CrossRefPubMed
15.
go back to reference Voltz R, Dalmau J, Posner JB, Rosenfeld MR (1998) T-cell receptor analysis in anti-Hu associated paraneoplastic encephalomyelitis. Neurology 51(4):1146–1150CrossRefPubMed Voltz R, Dalmau J, Posner JB, Rosenfeld MR (1998) T-cell receptor analysis in anti-Hu associated paraneoplastic encephalomyelitis. Neurology 51(4):1146–1150CrossRefPubMed
16.
go back to reference Shams’ili S, Grefkens J, de Leeuw B, van den Bent M, Hooijkaas H, van der Holt B, Vecht C, Sillevis Smitt P (2003) Paraneoplastic cerebellar degeneration associated with antineuronal antibodies: analysis of 50 patients. Brain 126(Pt 6):1409–1418CrossRefPubMed Shams’ili S, Grefkens J, de Leeuw B, van den Bent M, Hooijkaas H, van der Holt B, Vecht C, Sillevis Smitt P (2003) Paraneoplastic cerebellar degeneration associated with antineuronal antibodies: analysis of 50 patients. Brain 126(Pt 6):1409–1418CrossRefPubMed
17.
go back to reference Bernal F, Shams’ili S, Rojas I, Sanchez-Valle R, Saiz A, Dalmau J, Honnorat J, Sillevis Smitt P, Graus F (2003) Anti-Tr antibodies as markers of paraneoplastic cerebellar degeneration and Hodgkin’s disease. Neurology 60(2):230–234CrossRefPubMed Bernal F, Shams’ili S, Rojas I, Sanchez-Valle R, Saiz A, Dalmau J, Honnorat J, Sillevis Smitt P, Graus F (2003) Anti-Tr antibodies as markers of paraneoplastic cerebellar degeneration and Hodgkin’s disease. Neurology 60(2):230–234CrossRefPubMed
21.
go back to reference Honnorat J, Saiz A, Giometto B, Vincent A, Brieva L, de Andres C, Maestre J, Fabien N, Vighetto A, Casamitjana R, Thivolet C, Tavolato B, Antoine J, Trouillas P, Graus F (2001) Cerebellar ataxia with anti-glutamic acid decarboxylase antibodies: study of 14 patients. Arch Neurol 58(2):225–230CrossRefPubMed Honnorat J, Saiz A, Giometto B, Vincent A, Brieva L, de Andres C, Maestre J, Fabien N, Vighetto A, Casamitjana R, Thivolet C, Tavolato B, Antoine J, Trouillas P, Graus F (2001) Cerebellar ataxia with anti-glutamic acid decarboxylase antibodies: study of 14 patients. Arch Neurol 58(2):225–230CrossRefPubMed
23.
go back to reference Castillo P, Woodruff B, Caselli R, Vernino S, Lucchinetti C, Swanson J, Noseworthy J, Aksamit A, Carter J, Sirven J, Hunder G, Fatourechi V, Mokri B, Drubach D, Pittock S, Lennon V, Boeve B (2006) Steroid-responsive encephalopathy associated with autoimmune thyroiditis. Arch Neurol 63(2):197–202CrossRefPubMed Castillo P, Woodruff B, Caselli R, Vernino S, Lucchinetti C, Swanson J, Noseworthy J, Aksamit A, Carter J, Sirven J, Hunder G, Fatourechi V, Mokri B, Drubach D, Pittock S, Lennon V, Boeve B (2006) Steroid-responsive encephalopathy associated with autoimmune thyroiditis. Arch Neurol 63(2):197–202CrossRefPubMed
26.
go back to reference Kayden HJ (1993) The neurologic syndrome of vitamin E deficiency: a significant cause of ataxia. Neurology 43(11):2167–2169CrossRefPubMed Kayden HJ (1993) The neurologic syndrome of vitamin E deficiency: a significant cause of ataxia. Neurology 43(11):2167–2169CrossRefPubMed
28.
go back to reference Fearnley JM, Stevens JM, Rudge P (1995) Superficial siderosis of the central nervous system. Brain 118(Pt 4):1051–1066CrossRefPubMed Fearnley JM, Stevens JM, Rudge P (1995) Superficial siderosis of the central nervous system. Brain 118(Pt 4):1051–1066CrossRefPubMed
Metadata
Title
Degenerative and acquired sporadic adult onset ataxia
Authors
Maria Lieto
Alessandro Roca
Filippo Maria Santorelli
Tommasina Fico
Giovanna De Michele
Marta Bellofatto
Francesco Saccà
Giuseppe De Michele
Alessandro Filla
Publication date
01-07-2019
Publisher
Springer International Publishing
Published in
Neurological Sciences / Issue 7/2019
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI
https://doi.org/10.1007/s10072-019-03856-w

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