Consistent affection of the central somatosensory system in spinocerebellar ataxia type 2 and type 3 and its significance for clinical symptoms and rehabilitative therapy

Brain Research Reviews

Volumn 53, Issue 2, 2007, Pages 235-249

  Rüb, Udo ^a   Seidel, Kay ^a   Özerden, Inci ^a   Gierga, Kristin ^a   Brunt, Ewout R ^b   Schöls, Ludger ^c   de Vos, Rob A I ^d   den Dunnen, Wilfred ^b   Schultz, Christian ^a   Auburger, Georg ^a   Deller, Thomas ^a  

^a GOETHE UNIVERSITY   (Germany)

^b UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^c UNIVERSITY OF TÜBINGEN   (Germany)

^d Laboratorium Pathologie Oost Nederland   (Netherlands)

Author keywords

Ataxia; Dysphagia; Neuroanatomy; Neurorehabilitation; Pathoanatomy

Indexed keywords

AUTOSOMAL DOMINANT INHERITANCE; CEREBELLUM CORTEX; CLINICAL FEATURE; CUNEATE NUCLEUS; DISEASE SEVERITY; FATALITY; FUNCTIONAL ANATOMY; GRACILE NUCLEUS; HUMAN; MOTOR CORTEX; MOTOR DYSFUNCTION; NERVE CELL PLASTICITY; NEUROANATOMY; PATHOGENESIS; PHYSIOTHERAPY; PONS; PREMOTOR CORTEX; PRIORITY JOURNAL; REVIEW; SOMATOSENSORY CORTEX; SOMATOSENSORY DISORDER; SOMATOSENSORY SYSTEM; SPINOCEREBELLAR ATAXIA TYPE 2; SPINOCEREBELLAR ATAXIA TYPE 3; SPINOCEREBELLAR DEGENERATION; SWALLOWING; SYMPTOM; THALAMUS VENTRAL NUCLEUS; TRIGEMINAL NUCLEUS;

EID: 33846635034     PISSN: 01650173     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.brainresrev.2006.08.003     Document Type: Review

References (71)

1. Abele M., Bürk K., Andres F., Topka H., Laccone F., Bösch S., Brice A., Cancel G., Dichgangs J., and Klockgether T. Autosomal dominant cerebellar ataxia type I nerve conduction and evoked potential studies in families with SCA1, SCA2 and SCA3. Brain 120 (1997) 2141-2148
2. Alexander G.E., and DeLong N.R. Central mechanisms of initiation and control of movement. In: Asbury A.K., McKhann G.M., and McDonald W.I. (Eds). Diseases of the Nervous System, Clinical Neurobiology. 2nd edn. (1992), Saunders, Philadelphia 285-308
3. Altschuler S.M. Laryngeal and respiratory protective reflexes. Am. J. Med. 111 (2001) 90-94
4. Asbury A.K., and Bird S.J. Disorders of peripheral nerve. In: Asbury A.K., McKhann G.M., and McDonald W.I. (Eds). Diseases of the Nervous System, Clinical Neurobiology. 2nd edn. (1992), Saunders, Philadelphia 252-269
5. Berke S.J., Chai Y., Marrs G.L., Wen H., and Paulson H.L. Defining the role of ubiquitin-interacting motifs in the polyglutamine disease protein, ataxin-3. J. Biol. Chem. 280 (2005) 32026-32034
6. Braak H. Architectonics of the Human Telencephalic Cortex (1980), Springer, Berlin
7. Braak H., Rüb U., and Del Tredici K. Involvement of precerebellar nuclei in multiple system atrophy. Neuropathol. Appl. Neurobiol. 29 (2003) 60-76
8. Brodmann K. Vergleichende Lokalisationslehre der Grosshirnrinde (1909), J. A. Barth, Leipzig
9. Bürk K., Abele M., Fetter M., Dichgans J., Skalej M., Laccone F., Didierjean O., Brice A., and Klockgether T. Autosomal dominant cerebellar ataxia type I. Clinical features and MRI in families with SCA1, SCA2 and SCA3. Brain 119 (1996) 1497-1505
10. Bürk K., Stevanin G., Didierjean O., Cancel G., Trottier Y., Skalej M., Abele M., Brice A., Dichgans J., and Klockgether T. Clinical and genetic analysis of three German kindreds with autosomal dominant cerebellar dominant ataxia type I linked to the SCA2 locus. J. Neurol. 244 (1997) 256-261
11. Cancel C., Dürr A., Didierjean O., Imbert G., Bürk K., Lezin A., Belal S., Benomar A., Abada-Bendib M., Vial C., Guimarães J., Chneiweiss A., Stevanin G., Yvert G., Abbas N., Saudou F., Lebre A.S., Yahyaoui M., Hentati F., Vernant J.C., Klockgether T., Mandel J.L., Agid Y., and Brice A. Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families. Hum. Mol. Genet. 6 (1997) 709-715
12. Côté L., and Crutcher M.D. The basal ganglia. In: Kandel E.R., Schwartz J.H., and Jessell T.M. (Eds). Principles of Neural Science (1991), Elsevier, New York 647-659
13. Dodd J., and Kelly J.P. Trigeminal system. In: Kandel E.R., Schwartz J.H., and Jessell T.M. (Eds). Principles of Neural Science (1991), Elsevier, New York 701-710
14. Drubach D.A., Makley M., and Dodd M.L. Manipulation of central nervous system plasticity: a new dimension in the care of neurologically impaired patients. Mayo Clin. Proc. 79 (2004) 796-800
15. Dürr A., Smadja D., Cancel G., Lezin A., Stevanin G., Mikol J., Bellance R., Buisson G.G., Chneiweiss H., and Dellanave J. Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies). Clinical and neuropathological analysis of 53 patients from three unrelated SCA2 families. Brain 118 (1995) 1573-1581
16. Ertekin C. Physiological and pathological aspects of oropharyngeal swallowing. Mov. Disord. 17 Suppl. 2 (2002) 86-89
17. Ertekin C., and Aydolgu I. Neurophysiology of swallowing. Clin. Neurophysiol. 114 (2003) 2226-2244
18. Evidente V.G., Gwinn-Hardy K.A., Caviness J.N., and Gilman S. Hereditary ataxias. Mayo Clin. Proc. 75 (2000) 475-490
19. Geschwind D.H., Perlman S., Figueroa C.P., Treiman L.J., and Pulst S.M. The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia. Am. J. Hum. Genet. 60 (1997) 842-850
20. Ghez C. Posture. In: Kandel E.R., Schwartz J.H., and Jessell T.M. (Eds). Principles of Neural Science (1991), Elsevier, New York 596-607
21. Ghez C. The cerebellum. In: Kandel E.R., Schwartz J.H., and Jessell T.M. (Eds). Principles of Neural Science (1991), Elsevier, New York 626-646
22. Ghez C. Voluntary movement. In: Kandel E.R., Schwartz J.H., and Jessell T.M. (Eds). Principles of Neural Science (1991), Elsevier, New York 609-625
23. Gierga K., Bürk K., Bauer M., Orozco Diaz G., Auburger G., Schultz C., Vuksic M., Schöls L., De Vos R.A., Braak H., Deller T., and Rüb U. Involvement of the cranial nerves and their nuclei in spinocerebellar ataxia typer 2 (SCA2). Acta Neuropathol. 109 (2005) 617-631
24. Gilman S. Cerebellum and motor dysfunction. In: Asbury A.K., McKhann G.M., and McDonald W.I. (Eds). Diseases of the Nervous System: Clinical Neurobiology. 2nd edn. (1992), Saunders, Philadelphia 368-389
25. Gilman S. The spinocerebellar ataxias. Clin. Neuropharmacol. 23 (2000) 296-303
26. Heinicke D. Physiotherapie, Ergotherapie, Logopädie für Betroffene mit Ataxie-Erkrankungen (2005), Texdat-Service, Weinheim
27. Hellenbroich Y., Gierga K., Reusche E., Schwinger E., Deller T., de Vos R.A., Zühlke C., and Rüb U. Spinocerebellar ataxia type 4 (SCA4): initial pathoanatomical study reveals widespread cerebellar and brainstem degeneration. J. Neural Transm. 113 (2006) 829-843
28. Hummel F.C., and Cohen L.G. Drivers of brain plasticity. Curr. Opin. Neurol. 18 (2005) 667-674
29. Hummelsheim H. Rationales for improving motor function. Curr. Opin. Neurol. 12 (1999) 697-701
30. Hutchins B., and Weber J.T. A rapid myelin stain for frozen sections: modifications of the Heidenhain procedure. J. Neurosci. Methods 7 (1983) 289-294
31. Imbert G., Saudou F., Yvert G., Devys D., Trottier Y., Garnier J.M., Weber C., Mandel J.l., Cancel G., Abbas N., Dürr A., Didierjean O., Stevanin G., Agid Y., and Brice A. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat. Genet. 14 (1996) 285-291
32. Iwabuchi K., Tsuchiya K., Uchihara T., and Yagishita S. Autosomal dominant spinocerebellar degenerations. Clinical, pathological, and genetic correlations. Rev. 155 (1999) 255-270
33. Jones E.G. The Thalamus (1985), Plenum Press, New York
34. Jueptner M., Ottinger S., Fellows S.J., Adamschewski J., Flerich L., Müller S.P., Diener H.C., Thilmann A.F., and Weiler C. The relevance of sensory input for the cerebellar control of movements. NeuroImage 5 (1997) 41-48
35. Kaas J.H. Somatosensory system. In: Paxinos G. (Ed). The Human Central Nervous System (1990), Academic Press, San Diego 813-844
36. Kawaguchi Y., Okamoto T., Taniwaki M., Aizawa M., Inoue M., Katayama S., Kawakami H., Nakamura S., Nishimura M., Akiguchi I., Kimura J., Narumiya S., and Kakizuka A. CAG expansion in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat. Genet. 8 (1994) 221-228
37. Klockgether T. Ataxias. In: Goetz C.G. (Ed). Textbook of Clinical Neurology. 2nd edn. (2003), WB Saunders Publishing, Philadelphia 741-757
38. Langmore S.E., Terpenning M.S., Schork A., Chen Y., Murray J.T., Lopatin D., and Loesche W.J. Predictors of aspiration pneumonia: how important is dysphagia?. Dysphagia 13 (1998) 69-81
39. Leopold N.A., and Kagel M.C. Swallowing, ingestion and dysphagia: a reappraisal. Arch. Phys. Med. Rehabil. 64 (1983) 371-373
40. Lind C.D. Dysphagia: evaluation and treatment. Gastroenterol. Clin. North Am. 32 (2003) 553-575
41. Lindblom U., and Ochoa J. Somatosensory function and dysfunction. In: Asbury A.K., McKhann G.M., and McDonald W.I. (Eds). Diseases of the Nervous System: Clinical Neurobiology. 2nd edn. (1992), Saunders, Philadelphia 213-228
42. Maciewicz R. Organization of pain pathways. In: Asbury A.K., McKhann G.M., and McDonald W.I. (Eds). Diseases of the Nervous System: Clinical Neurobiology. 2nd edn. (1992), Saunders, Philadelphia 849-857
43. Marik P.E., and Kaplan D. Aspiration pneumonia and dysphagia in the elderly. Chest 124 (2003) 328-336
44. Martin J.H., and Jessell T. Anatomy of the somatic sensory system. In: Kandel E.R., Schwartz J.H., and Jessell T.M. (Eds). Principles of Neural Science (1991), Elsevier, New York 353-366
45. Martin B.J.W., Corlew M.M., Wood H., Olson D., Golopol L.A., Wingo M., and Birmani N. The association of swallowing dysfunction and aspiration pneumonia. Dysphagia 9 (1994) 1-6
46. Neumann S., Bartolome G., Buchholz D., and Prosiegel M. Swallowing therapy of neurologic patients: correlation of outcome with pretreatment variables and therapeutic methods. Dysphagia 10 (1995) 1-5
47. Palmer J.B., Drennan J.C., and Baba M. Evaluation and treatment of swallowing impairments. Am. Fam. Phys. 61 (2000) 2453-2462
48. Paulson H., and Ammache Z. Ataxia and hereditary disorders. Mov. Disord. 19 (2001) 759-782
49. Paxinos G., Törk I., Halliday G., and Mehler M.R. Human homologs to brainstem nuclei identified in other animals as revealed by acetylcholinesterase activity. In: Paxinos G. (Ed). The Human Central Nervous System (1990), Academic Press, San Diego 140-202
50. Peele T.L. Anatomy of the spinal cord. In: Schaltenbrand G., and Walker E.A. (Eds). Stereotaxy of the Human Brain (1982), Thieme, Stuttgart 13-22
51. Pulst S.M., Nechiporuk A., Nechiporuk T., Gispert S., Chen X.N., Lopes-Cendes I., Pearlman S., Starkman S., Orozco-Diaz G., Lunkes A., DeJong P., Rouleau G.A., Auburger G., Korenberg J.R., Figueroa C., and Sahba S. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat. Genet. 14 (1996) 269-276
52. Raiser M., Nonhoff U., Albrecht M., Lengauer T., Wanker E.E., Lehrach H., and Krobitsch S. Ataxin-2 and huntingtin interact with endophilin-A complexes to function in plastin-associated pathways. Hum. Mol. Genet. 14 (2005) 2893-2909
53. Ramsey D.J., and Smithard D.G. Assessment and management of dysphagia. Hosp. Med. 65 (2004) 274-279
54. Riess O., Laccone F.A., Gispert S., Schöls L., Zühlke C., Vieira-Saecker A.M., Herlt S., Wessel K., Epplen J.T., Weber B.H., Kreuz F., Chahrokh-Zadeh S., Meindl A., Lunkes A., Aguiar J., Macek M.Jr., Krebsova A., Macek M.Sr., Bürk K., Tinschert S., Schreyer I., Pulst S.M., and Auburger G. SCA2 trinucleotide expansion in German SCA patients. Neurogenetics 1 (1997) 59-64
55. Riley H.A. An Atlas of the Basal Ganglia, Brainstem and Spinal Cord (1943), The Williams & Wilkins Company, Baltimore
56. Rüb U., Brunt E.R., Del Turco D., de Vos R.A.I., Gierga K., Paulson H., and Braak H. Guidelines for the pathoanatomical examination of the lower brain stem in ingestive and swallowing disorders and its application to a dysphagic spinocerebellar ataxia type 3 patient. Neuropathol. Appl. Neurobiol. 29 (2003) 1-13
57. Rüb U., Del Turco D., Del Tredici K., de Vos R.A.I., Brunt E.R., Reifenberger G., Seifried C., Schultz C., Auburger G., and Braak H. Thalamic involvement in a spinocerebellar ataxia type 2 (SCA2) and a spinocerebellar ataxia type 3 (SCA3) patient and its clinical relevance. Brain 126 (2003) 2257-2272
58. Rüb U., Schultz C., Del Tredici K., Gierga K., Reifenberger G., De Vos R.A.I., Seifried C., Braak H., and Auburger G. Anatomically-based guidelines for systematic investigations of the central somatosensory system and their application to a spinocerebellar ataxia type 2 (SCA2) patient. Neuropathol. Appl. Neurobiol. 29 (2003) 418-433
59. Rüb U., Brunt E.R., Gierga K., Seidel K., Schultz C., Schöls L., Auburger G., Heinsen H., Ippel P.F., Glimmerveen W.F., Wittebol-Post D., Arai K., Deller T., and de Vos R.A. Spinocerebellar ataxia type 7 (SCA7): first report of a systematic neuropathological study of the brain of a patient with a very short expanded CAG-repeat. Brain Pathol. 15 (2005) 287-295
60. Rüb U., Del Turco D., Bürk K., Orozco Diaz G., Auburger G., Mittelbronn M., Gierga K., Ghebremedhin E., Schultz C., Schöls L., Bohl J., Braak H., and Deller T. Extended pathoanatomical studies point to a consistent affection of the thalamus in spinocerebellar ataxia type 2. Neuropathol. Appl. Neurobiol. 31 (2005) 127-140
61. Rüb U., Gierga K., Brunt E.R., De Vos R.A., Bauer M., Schöls L., Bürk K., Auburger G., Bohl J., Schultz C., Vuksic M., Burbach G.J., Braak H., and Deller T. Spinocerebellar ataxias types 2 and 3: degeneration of the precerebellar nuclei isolates the three phylogenetically defined regions of the cerebellum. J. Neural Transm. 112 (2005) 1523-1545
62. Said G., and Thomas P.K. Pathophysiology of nerve and root disorders. In: Asbury A.K., McKhann G.M., and McDonald W.I. (Eds). Diseases of the Nervous System: Clinical Neurobiology. 2nd edn. (1992), Saunders, Philadelphia 241-251
63. Schoenen J., and Grant G. Spinal cord: connections. In: Paxinos G. (Ed). The Human Central Nervous System (1990), Academic Press, San Diego 77-92
64. Schöls L., Amoiridis G., Büttner T., Przuntek H., Epplen J.T., and Riess O. Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes?. Ann. Neurol. 42 (1997) 924-932
65. Schöls L., Gispert S., Vorgerd M., Vieira-Saecker A.M.M., Blanke P., Auburger G., Amoirides G., Meves S., Epplen J.T., Przuntek H., Pulst S.M., and Riess O. Spinocerebellar ataxia type 2. Genotype and phenotype in German kindreds. Arch. Neurol. 54 (1997) 1073-1080
66. Schöls L., Peters S., Szymanski S., Krüger R., Lange S., Hardt C., Riess O., and Przuntek H. Extrapyramidal motor signs in degenerative ataxias. Arch. Neurol. 57 (2000) 1495-1500
67. Schöls L., Bauer P., Schmidt T., Schulte T., and Riess O. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol. 3 (2004) 291-304
68. Taub E., Uswatte G., and Elbert T. New treatments in neurorehabilitation founded on basic research. Nat. Rev., Neurosci. 3 (2002) 228-236
69. Yamamoto M., Kachi T., and Sobue G. Pain-related and electrically stimulated somatosensory evoked potentials in patients with Machado-Joseph disease and multiple system atrophy. Intern. Med. 36 (1997) 550-555
70. Zhogbi H.Y., and Orr H.T. Glutamine repeats and neurodegeneration. Annu. Rev. Neurosci. 23 (2000) 217-247
71. Zilles K. Cortex. In: Paxinos G. (Ed). The Human Central Nervous System (1990), Academic Press, San Diego 757-802