Spinocerebellar ataxia types 1, 2, 3 and 6: The clinical spectrum of ataxia and morphometric brainstem and cerebellar findings

Cerebellum

Volumn 11, Issue 1, 2012, Pages 155-166

  Jacobi, Heike ^a   Hauser, Till Karsten ^b   Giunti, Paola ^c   Globas, Christoph ^d   Bauer, Peter ^b   Schmitz Hübsch, Tanja ^a   Baliko, László ^e   Filla, Alessandro ^f   Mariotti, Caterina ^g   Rakowicz, Maria ^h   Charles, Perine ⁱ   Ribai, Pascale ^i,j   Szymanski, Sandra ^k   Infante, Jon ^l   Van De Warrenburg, Bart P C ^m   Dürr, Alexandra ^i,j,n   Timmann, Dagmar ^o   Boesch, Sylvia ^p   Fancellu, Roberto ^g   Rola, Rafal ^h   Depondt, Chantal ^q   Schöls, Ludger ^b,d   Zdzienicka, Elzbieta ^h   Kang, Jun Suk ^r   Ratzka, Susanne ^s   Kremer, Berry ^t   Stephenson, Dennis A ^c   Melegh, Béla ^u   Pandolfo, Massimo ^q   Du Montcel, Sophie Tezenas ^v,w   Borkert, Johannes ^s   Schulz, Jörg B ^s,x   Klockgether, Thomas ^a,y   more..

^a UNIVERSITY HOSPITAL BONN   (Germany)

^b UNIVERSITY OF TÜBINGEN   (Germany)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d UNIVERSITY OF TÜBINGEN   (Germany)

^e Dept of Dentistry and Oral Surgery   (Hungary)

^f UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^g DEPARTMENT OF NEUROSURGERY   (Italy)

^h INSTITUTE OF PSYCHIATRY AND NEUROLOGY   (Poland)

ⁱ PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^j NSERM   (France)

^k ST JOSEF HOSPITAL   (Germany)

^l HOSPITAL UNIVERSITARIO MARQUÉS DE VALDECILLA   (Spain)

^m RADBOUD UNIVERSITY   (Netherlands)

ⁿ INSTITUT DU CERVEAU ET DE LA MOELLE ÉPINIÈRE   (France)

^o UNIVERSITY HOSPITAL ESSEN   (Germany)

^p INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^q ERASME HOSPITAL   (Belgium)

^r GOETHE UNIVERSITY   (Germany)

^s UNIVERSITY MEDICAL CENTER GÖTTINGEN   (Germany)

^t UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^u UNIVERSITY OF PÉCS   (Hungary)

^v ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^w SORBONNE UNIVERSITÉ   (France)

^x UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

^y GERMAN CENTER FOR NEURODEGENERATIVE DISEASES DZNE   (Germany)

more..

Author keywords

Ataxia; Brainstem; Cerebellum; Clinical scale; Magnetic resonance imaging (MRI); Spinocerebellar ataxia (SCA)

Indexed keywords

ADULT; AGED; ARTICLE; ATAXIA; BODY POSTURE; BRAIN ATROPHY; BRAIN SIZE; BRAIN STEM ATROPHY; CEREBELLUM ATROPHY; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE SEVERITY; EYE MOVEMENT DISORDER; FEMALE; GAIT; GENOTYPE; HUMAN; INVENTORY OF NON ATAXIA SYMPTOMS; LIMB MOVEMENT; MAJOR CLINICAL STUDY; MALE; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; RATING SCALE; SCALE FOR THE ASSESSMENT AND RATING OF ATAXIA; SPEECH; SPINOCEREBELLAR ATAXIA TYPE 1; SPINOCEREBELLAR ATAXIA TYPE 2; SPINOCEREBELLAR ATAXIA TYPE 3; SPINOCEREBELLAR ATAXIA TYPE 6; SPINOCEREBELLAR DEGENERATION;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ATAXIA; ATROPHY; BRAIN STEM; CEREBELLUM; COHORT STUDIES; FEMALE; GAIT DISORDERS, NEUROLOGIC; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; SPINOCEREBELLAR ATAXIAS; YOUNG ADULT;

EID: 84858993439     PISSN: 14734222     EISSN: 14734230     Source Type: Journal    
DOI: 10.1007/s12311-011-0292-z     Document Type: Article

References (40)

1. Durr A. Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. Lancet Neurol. 2010;9(9):885-94.
2. Paulson HL. The spinocerebellar ataxias. J Neuroophthalmol. 2009;29(3):227-37.
3. Orr HT, Chung MY, Banfi S, Kwiatkowski Jr TJ, Servadio A, Beaudet AL, et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet. 1993;4 (3):221-6. (Pubitemid 23205168)
4. Pulst SM, Nechiporuk A, Nechiporuk T, Gispert S, Chen XN, Lopes-Cendes I, et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet. 1996;14(3):269-76.
5. Imbert G, Saudou F, Yvert G, Devys D, Trottier Y, Garnier JM, et al. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet. 1996;14(3):285-91.
6. Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet. 1994;8 (3):221-8. (Pubitemid 24338732)
7. Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the a1A-voltage- dependent calcium channel. Nat Genet. 1997;15(1):62-9.
8. Orr HT, Zoghbi HY. Trinucleotide repeat disorders. Annu Rev Neurosci. 2007;30:575-621. (Pubitemid 47218768)
9. Dubourg O, Dürr A, Cancel G, Stevanin G, Chneiweiss H, Penet C, et al. Analysis of the SCA1 CAG repeat in a large number of families with dominant ataxia: clinical and molecular correlations. Ann Neurol. 1995;37:176-80.
10. Orozco-Diaz G, Nodarse-Fleites A, Cordoves-Sagaz R, Auburger G. Autosomal dominant cerebellar ataxia: clinical analysis of 263 patients from a homogeneous population in Holguin, Cuba. Neurology. 1990;40:1369-75. (Pubitemid 20291642)
11. Schöls L, Gispert S, Vorgerd M, Menezes Vieira-Saecker AM, Blanke P, Auburger G, et al. Spinocerebellar ataxia type 2-genotype and phenotype in German kindreds. Arch Neurol. 1997;54(9):1073-80.
12. Dürr A, Stevanin G, Cancel G, Duyckaerts C, Abbas N, Didierjean O, et al. Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features. Ann Neurol. 1996;39:490-9. (Pubitemid 26118004)
13. Bürk K, Abele M, Fetter M, Dichgans J, Skalej M, Laccone F, et al. Autosomal dominant cerebellar ataxia type I-clinical features and MRI in families with SCA1, SCA2 and SCA3. Brain. 1996;119(5):1497-505. (Pubitemid 26375722)
14. Filla A, De Michele G, Campanella G, Perretti A, Santoro L, Serlenga L, et al. Autosomal dominant cerebellar ataxia type I. Clinical and molecular study in 36 Italian families including a comparison between SCA1 and SCA2 phenotypes. J Neurol Sci. 1996;142(1-2):140-7. (Pubitemid 26340423)
15. Schöls L, Amoiridis G, Büttner T, Przuntek H, Epplen JT, Riess O. Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes? Ann Neurol. 1997;42(6):924-32. (Pubitemid 28008424)
16. Schöls L, Krüger R, Amoiridis G, Przuntek H, Epplen JT, Riess O. Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds. J Neurol Neurosurg Psychiatry. 1998;64(1):67-73. (Pubitemid 28156540)
17. Matsumura R, Futamura N, Fujimoto Y, Yanagimoto S, Horikawa H, Suzumura A, et al. Spinocerebellar ataxia type 6 - molecular and clinical features of 35 Japanese patients including one homozygous for the CAG repeat expansion. Neurology. 1997;49 (5):1238-43. (Pubitemid 27495621)
18. Schmitz-Hubsch T, du Montcel ST, Baliko L, Berciano J, Boesch S, Depondt C, et al. Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology. 2006;66 (11):1717-20. (Pubitemid 43964628)
19. Weyer A, Abele M, Schmitz-Hubsch T, Schoch B, Frings M, Timmann D, et al. Reliability and validity of the scale for the assessment and rating of ataxia: a study in 64 ataxia patients. Mov Disord. 2007;22:1633-7. (Pubitemid 47477927)
20. Schmitz-Hübsch T, Coudert M, Bauer P, Giunti P, Globas C, Baliko L, et al. Spinocerebellar ataxia type 1, 2, 3, and 6. Disease severity and nonataxia symptoms. Neurology. 2008;71:982-9.
21. Schulz JB, Borkert J, Wolf S, Schmitz-Hübsch T, Rakowicz M, Mariotti C, et al. Visualization, quantification and correlation of brain atrophy with clinical symptoms in spinocerebellar ataxia types 1, 3 and 6. Neuroimage. 2010;49(1):158-68.
22. Brandauer B, Hermsdorfer J, Beck A, Aurich V, Gizewski ER, Marquardt C, et al. Impairments of prehension kinematics and grasping forces in patients with cerebellar degeneration and the relationship to cerebellar atrophy. Clin Neurophysiol. 2008;119 (11):2528-37.
23. Luft AR, Skalej M, Welte D, Kolb R, Bürk K, Schulz JB, et al. A new semiautomated, three-dimensional technique allowing precise quantification of total and regional cerebellar volume using MRI. Magn Reson Med. 1998;40(1):143-51. (Pubitemid 28292596)
24. Eritaia J,Wood SJ, Stuart GW, Bridle N, Dudgeon P, Maruff P, et al. An optimized method for estimating intracranial volume from magnetic resonance images. Magn Reson Med. 2000;44 (6):973-7.
25. Gomez CM, Thompson RM, Gammack JT, Perlman SL, Dobyns WB, Truwit CL, et al. Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset. Ann Neurol. 1997;42(6):933-50.
26. Buttner N, Geschwind D, Jen JC, Perlman S, Pulst SM, Baloh RW. Oculomotor phenotypes in autosomal dominant ataxias. Arch Neurol. 1998;55(10):1353-7. (Pubitemid 28465871)
27. Burk K, Fetter M, Abele M, Laccone F, Brice A, Dichgans J, et al. Autosomal dominant cerebellar ataxia type I: oculomotor abnormalities in families with SCA1, SCA2, and SCA3. J Neurol. 1999;246(9):789-97. (Pubitemid 29467154)
28. Yabe I, Sasaki H, Takeichi N, Takei A, Hamada T, Fukushima K, et al. Positional vertigo and macroscopic downbeat positioning nystagmus in spinocerebellar ataxia type 6 (SCA6). J Neurol. 2003;250(4):440-3. (Pubitemid 36459750)
29. Ying SH, Choi SI, Lee M, Perlman SL, Baloh RW, Toga AW, et al. Relative atrophy of the flocculus and ocular motor dysfunction in SCA2 and SCA6. Ann N Y Acad Sci. 2005;1039:430-5. (Pubitemid 40979900)
30. Dichgans J, Fetter M. Compartmentalized cerebellar functions upon the stabilization of body posture. Rev Neurol (Paris). 1993;149(11):654-64. (Pubitemid 24024300)
31. Timmann D, Diener HC. Coordination and ataxia. In: Goetz CG, Pappert EJ, editors. Textbook of clinical neurology. 3rd ed. Philadelphia: Saunders Elsevier; 2007. p. 307-25.
32. Dietrichs E. Clinical manifestation of focal cerebellar disease as related to the organization of neural pathways. Acta Neurol Scand Suppl. 2008;188:6-11. (Pubitemid 351595267)
33. Solomon DH, Barohn RJ, Bazan C, Grissom J. The thalamic ataxia syndrome. Neurology. 1994;44(5):810-4. (Pubitemid 24158791)
34. Mitoma H, Hayashi R, Yanagisawa N, Tsukagoshi H. Gait disturbances in patients with pontine medial tegmental lesions: clinical characteristics and gait analysis. Arch Neurol. 2000;57 (7):1048-57. (Pubitemid 30452512)
35. Marx JJ, Iannetti GD, Thömke F, Fitzek S, Galeotti F, Truini A, et al. Topodiagnostic implications of hemiataxia: an MRI-based brainstem mapping analysis. Neuroimage. 2008;39 (4):1625-32.
36. Voogd J, Schraa-Tam CK, van der Geest JN, de Zeeuw CI. Visuomotor cerebellum in human and nonhuman primates. Cerebellum 2010. doi:10.1007/s12311- 010-0204-7.
37. Wang X, Wang H, Xia Y, Jiang H, Shen L, Wang S et al. Spinocerebellar ataxia type 6: systematic patho-anatomical study reveals different phylogenetically defined regions of the cerebellum and neural pathways undergo different evolutions of the degenerative process. Neuropathology 2010. doi:10.1111/j.1440-1789.2009.01094.x.
38. Genis D, Matilla T, Volpini V, Rosell J, Dávalos A, Ferrer I, et al. Clinical, neuropathologic, and genetic studies of a large spinocerebellar ataxia type 1 (SCA1) kindred: (CAG)n expansion and early premonitory signs and symptoms. Neurology. 1995;45:24-30.
39. Orozco G, Estrada R, Perry TL, Araña J, Fernandez R, Gonzalez- Quevedo A, et al. Dominantly inherited olivopontocerebellar atrophy from eastern Cuba. Clinical, neuropathological, and biochemical findings. J Neurol Sci. 1989;93:37-50. (Pubitemid 19244006)
40. Klockgether T, Skalej M,Wedekind D, Luft AR,Welte D, Schulz JB, et al. Autosomal dominant cerebellar ataxia type I. MRI-based volumetry of posterior fossa structures and basal ganglia in spinocerebellar ataxia types 1, 2 and 3. Brain. 1998;121(Pt 9):1687-93. (Pubitemid 28419974)