Supratentorial atrophy in spinocerebellar ataxia type 2: MRI study of 20 patients

Journal of Neurology

Volumn 246, Issue 5, 1999, Pages 383-388

  Giuffrida, Salvatore ^b   Saponara, Riccardo ^c   Restivo, Domenico A ^c   Salinaro, Angela Trovato ^c   Tomarchio, Letizia ^c   Pugliares, Pietro ^c   Fabbri, Giuseppe ^a   Maccagnano, Carmelo ^a  

^a GARIBALDI HOSPITAL   (Italy)

^b UNIVERSITY OF CATANIA   (Italy)

^c NONE

Author keywords

Cerebral atrophy; Disease duration; Magnetic resonance imaging; Spinocerebellar ataxia type 2

Indexed keywords

ADULT; ARTICLE; BRAIN ATROPHY; CENTRAL NERVOUS SYSTEM DISEASE; CEREBELLAR ATAXIA; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE COURSE; DISEASE DURATION; FEMALE; HUMAN; ITALY; MALE; MEDICAL INSTRUMENTATION; MOLECULAR BIOLOGY; NERVE DEGENERATION; NUCLEAR MAGNETIC RESONANCE IMAGING; OLIVOPONTOCEREBELLAR ATROPHY; PRIORITY JOURNAL; STATISTICAL ANALYSIS;

ADULT; AGED; ATROPHY; CEREBELLUM; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; OLIVOPONTOCEREBELLAR ATROPHIES; REPETITIVE SEQUENCES, NUCLEIC ACID; SPINOCEREBELLAR DEGENERATIONS; TIME FACTORS;

EID: 0242526280     PISSN: 03405354     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004150050368     Document Type: Article

References (28)

1. 1. Bürk K, Abele M, Fetter M, Dichgans J, Skalej M, Laccone F, Didierjean O, Brice A, Klockgether T (1996) Autosomal dominant cerebellar ataxia type I. Clinical features and MRI in families with SCA1, SCA2 and SCA3. Brain 119:1497-1505
2. 2. Bürk K, Stevanin G, Didierjean O, Cancel G, Trottier Y, Skalej M, Abele M, Brice A, Dichgans J, Klockgether T (1997) Clinical and genetic analysis of three german kindreds with autosomal dominant cerebellar ataxia type I linked to the SCA2 locus. J Neurol 244:256-261
3. 3. Condorelli DF, Trovato Salinaro A, Spinella F, Valvo S, Saponara R, Giuffrida S (1998) Rapid touchdown PCR assay for the molecular diagnosis of spinocerebellar ataxia type 2. Int J Clin Lab Res 28:174-178
4. 4. De Michele G, Santoro L, Calabrese O, Castaldo I, Giuffrida S, Restivo DA, Serlenga L, Scala R, Coppola G, Grimaldi G, Cocozza S, Filla A (1997) SCA2 is the most frequent cause of autosomal dominant cerebellar ataxia in southern Italy. Ital J Neurol Sci. Suppl. 4:26
5. 5. Durr A, Smadja D, Cancel G, Lezin A, Stevanin G, Mikol J, Bellance R, Buisson GG, Chneiweiss H, Dellanave J, Agid Y, Brice A, Vernant JC (1995) Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies). Clinical and neuropathological analysis of 53 patients from three unrelated SCA2 families. Brain 118:1573-1581
6. 6. Gardner K, Alderson K, Galester B, Kaplan C, Leppert M, Ptacek L (1994) Autosomal dominant spinocerebellar ataxia: clinical description of a distinct hereditary ataxia and genetic localization to chromosome 16 (SCA4) in a Utah kindred. Neurology 44S:A361
7. 7. Gispert S, Twells R, Orozco G, Brice A, Weber J, Heredero L, Scheufler K, Riley B, Allotey R, Nothers C, Hillermann R, Lunkes A, Khati C, Stevanin G, Hernandez A, Magarino C, Klockgether T, Durr A, Chneiweiss H, Enczmann J, Farrall M, Beckmann J, Mullan M, Wernet P, Agid Y, Freund HJ, Williamson R, Auburger G, Chamberlain S (1993) Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1. Nat Genet 4: 295-299
8. 8. Giunti P, Sabbatini G, Sweeney MG, Davis MB, Veneziano L, Mantuano E, Federico A, Plasmati R, Frontali M, Wood NW (1998) The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates. Brain 121:459-467
9. 9. Harding A. (1982) The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of the Drew family of Walworth. Brain 105:1-28
10. 10. Ishikawa K, Mizusawa H, Saito M, Tanaka H, Nakajima N, Kondo N, Kanazawa I, Shoji S, Tsuji S (1996) Autosomal dominant pure cerebellar ataxia. A clinical and genetic analysis of eight Japanese families. Brain 119: 1173-1182
11. 11. Jobsis GJ, Weber JW, Barth PG, Keizers H, Baas F, van Schooneveld MJ, van Hilten JJ, Troost D, Geesink HH, Bolhuis PA (1997) Autosomal dominant cerebellar ataxia with retinal degeneration (ADCA II): clinical and neuropathological findings in two pedigrees and genetic linkage to 3p12-p21.1. J Neurol Neurosurg Psychiatry 62:367-371
12. 12. Junck L, Fink JK (1996) Machado-Joseph disease and SCA3: the genotype meets the phenotypes. Neurology 46:4-8
13. 13. Klockgether T, Faiss J, Poremba M, Dichgans J (1990) The development of infratentorial atrophy in patients with idiopathic cerebellar ataxia of late onset: a CT study. J Neurol 237:420-423
14. 14. Klockgether T, Schroth G, Diener HC, Dichgans J (1990) Idiopathic cerebellar ataxia of late onset: natural history and MRI morphology. J Neurol Neurosurg Psychiatry 53:297-305
15. 15. Lopes-Cendes I, Maciel P, Kish S, Gaspar C, Robitaille Y, Clark HB, Koeppen AH, Nance M, Schut L, Silveira I, Coutinho P, Sequeiros J, Rouleau GA (1996) Somatic mosaicism in the central nervous system in spinocerebellar ataxia type 1 and Machado-Joseph disease. Ann Neurol 40:199-206
16. 16. Mascalchi M, Tosetti M, Plasmati R, Bianchi MC, Tessa C, Salvi F, Frontali M, Valzania F, Bartolozzi C, Tassinari C (1998) Proton magnetic resonance spectroscopy in an Italian family with spinocerebellar ataxia type 1. Ann Neurol 43:244-252
17. 17. Murata Y, Yamaguchi S, Kawakami H, Imon Y, Maruyama H, Sakai T, Kazuta T, Ohtake T, Nishimura M, Saida T, Chiba S, Takekazu O, Nakamura S (1998) Characteristic magnetic resonance imaging findings in Machado-Joseph disease. Arch Neurol 55:33-37
18. 18. Ormerod IEC, Harding AE, Miller DH, Johnson G, MacManus D, du Boulay EPGH, Kendall BE, Moseley IF, McDonald WI (1994) Magnetic resonance imaging in degenerative ataxic disorders. J Neurol Neurosurg Psychiatry 57: 51-57
19. 19. Orozco Diaz G, Nodarse Fleites A, Cordovès Sagaz R, Auburger G (1990) Autosomal dominant cerebellar ataxia: clinical analysis of 263 patients from a homogeneous population in Holguìn, Cuba. Neurology 40:1369-1375
20. 20. Pulst SM, Nechiporuk A, Nechiporuk T, Gispert S, Chen XN, Lopes-Cendes I, Pearlman S, Starkman S, Orozco-Diaz G, Lunkes A, De Jong P, Rouleau GA, Auburger G, Korenberg JR, Figueroa C, Sahba S (1996) Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet 14:269-276
21. 21. Sasaki H, Fukazawa T, Yanagihara T, Hamada T, Shima K, Matsumoto A, Hashimoto K, Ito N, Wakisaka A, Tashiro K (1996) Clinical features and natural history of spinocerebellar ataxia type 1. Acta Neurol Scand 93:64-71
22. 22. Savoiardo M, Strada L, Girotti F, Zimmerman RA, Grisoli M, Testa D, Petrillo R (1990) Olivopontocerebellar atrophy: MR diagnosis and relationship to multisystem atrophy. Radiology 174: 693-696
23. 23. Schöls L, Gispert S, Vorgerd M, Menezes Vieria-Saecker AM, Blanke P, Auburger G, Amoiridis G, Meves S, Epplen JT, Przuntek H, Pulst SM, Riess O (1997) Spinocerebellar ataxia type 2. Genotype and phenotype in german kindreds. Arch Neurol 54: 1073-1080
24. 24. Takijama Y, Nishizawa M, Tanaka H, Kawashima S, Sakamoto H, Karube Y, Shimazaki H, Soutome M, Endo K, Ohta S, Kagawa Y, Kanazawa I, Mizuno Y, Yoshida M, Yuasa T, Horikawa Y, Oyanagi K, Nagai H, Kondo T, Inuzuka T, Onodera O, Tsuji S (1993) The gene for Machado-Joseph disease maps to human chromosome 14q. Nat Genet 4:300-304
25. 25. Wessel K, Huss GP, Bruckmann H, Kompf D (1993) Follow-up of neurophysiological tests and CT in late-onset cerebellar ataxia and multiple system atrophy. J Neurol 240:168-176
26. 26. Wüllner U, Klockgether T, Petersen D, Naegele T, Dichgans J (1993) Magnetic resonance imaging in hereditary and idiopathic ataxia. Neurology 43: 318-325
27. 27. Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, Subramony SH, Zoghbi HY, Lee C (1997) Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha(1 A)-voltage-dependent calcium channel. Nat Genet 15: 62-69
28. 28. Zoghbi HY, Jodice C, Sandkuijl LA, Kwiatkowski TY jr, McCall AE, Huntoon SA, Lulli P, Spadaro M, Litt M, Cann HM, Frontali M, Terrenato L (1991) The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps telomeri to the HLA complex and is closely linked to the D6S89 locus in three large kindreds. Am J Hum Genet 49:23-30