CAG repeat length and clinical features in three Italian families with spinocerebellar ataxia type 2 (SCA2): Early impairment of Wisconsin Card Sorting Test and saccade velocity

Journal of Neurology

Volumn 245, Issue 10, 1998, Pages 647-652

  Gambardella, A ^a,b   Annesi, G ^b   Bono, F ^a   Spadafora, P ^b   Valentino, P ^a   Pasqua, A A ^b   Mazzei, R ^b   Montesanti, R ^a   Conforti, F L ^b   Oliveri, R L ^a,b   Zappia, M ^a   Aguglia, U ^a   Quattrone, A ^a,b,c  

^a School of Medicine of Catanzaro   (Italy)

^b CNR   (Italy)

^c UNIVERSITY OF CHIETI   (Italy)

Author keywords

Autosomal dominant diseases; Cerebellar ataxia; Saccades; Spinocerebellar ataxia type 2 (SCA2); Trinucleotide

Indexed keywords

ACCURACY; ADOLESCENT; ADULT; AGED; ARTICLE; ATAXIA; BRAIN STEM; CEREBELLAR ATAXIA; CEREBELLUM; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE COURSE; EYE MOVEMENT; FEMALE; GAIT; GENE MUTATION; HUMAN; MALE; NEUROPHYSIOLOGY; NEUROPSYCHOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE REPEAT; ONSET AGE; PRIORITY JOURNAL; SACCADIC EYE MOVEMENT; SMOOTH PURSUIT EYE MOVEMENT;

ADULT; AGE OF ONSET; COMPUTERS; FEMALE; GENES, DOMINANT; HUMANS; ITALY; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUTATION; NEUROPSYCHOLOGICAL TESTS; PEDIGREE; SACCADES; SPINOCEREBELLAR DEGENERATIONS; TRINUCLEOTIDE REPEATS;

EID: 7344220911     PISSN: 03405354     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004150050261     Document Type: Article

References (22)

1. Baloh RW, Sills AW, Kumley WE, Honrubia V (1975) Quantitative measurement of saccade amplitude, duration and velocity. Neurology 25: 1065-1070
2. Belal S, Cancel G, Stevanin G, et al (1994) Clinical and genetic analysis of a Tunisian family with autosomal dominant cerebellar ataxia type 1 linked to the SCA2 locus. Neurology 44: 1423-1426
3. Bono F, Oliveri RL, Zappia M, Aguglia U, Puccio G, Quattrone A (1996) Computerized analysis of eye movements as a function of age. Arch Gerontol Geriatr 22: 261-269
4. Bürk K, Abele M, Fetter M, et al (1996) Autosomal dominant cerebellar ataxia type I. Clinical features and MRI in families with SCA1, SCA2 and SCA3. Brain 119: 1497-1505
5. Carter N, Zee DS (1997) The anatomical localization of saccades using functional imaging studies and transcranial magnetic stimulation. Curr Opin Neurol 10: 10-17
6. Cipollotti L, Warrington EK (1995) Neuropsychological assessment. J Neurol Neurosurg Psychiatry 58: 655-664
7. Dürr A, Smadja D, Cancel G, et al (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
8. Filla A, De Michele G, Banfi S, et al (1995) Has spinocerebellar ataxia type 2 a distinct phenotype? Genetic and clinical study of an Italian family. Neurology 45: 793-796
9. Gispert S, Wells R, Orozco G, et al (1993) Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1. Nat Genet 4: 295-299
10. Hamilton MA (1960) A rating scale for depression. J Neurol Neurosurg Psychiatry 23: 56-62
11. Handing AE (1982) The clinical features and classification of the late onset autosomal dominant cerehellar ataxias. A study of 11 families, including descendants of 'the Drew family of Walworth'. Brain 105: 1-28
12. Imbert G, Saudou F, Ivert G, et al (1996) Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with a high sensitivity to expanded CAG/glutamine repeats. Nat Genet 14: 285-291
13. Kish SJ, El-Awar M, Stuss D, et al (1994) Neuropsychological test performance in patients with dominantly inherited spinocerehellar ataxia. Relationship to ataxia severity. Neurology 44: 1738-1746
14. Koeppen AH, Barron KD (1984) The neuropathology of olivopontocerebellar atrophy. Adv Neurol 41: 13-38
15. Lopes-Cendes I, Andermann E, Attig E, et al (1994) Confirmation of the SCA-2 locus as an alternative locus for dominantly inherited spinocerehellar ataxias and refinement of the candidate region. Am J Hum Genet 54: 774-781
16. Moschner C, Perlman S, Baloh R (1994) Comparison of oculomotor findings in the progressive ataxia syndromes. Brain 117: 15-25
17. Nagahama Y, Fukuyama H, Yamauchi H, et al (1996) Cerebral activation during performance of a card sorting test. Brain 119: 1667-1675
18. Nelson HE (1976) A modified card sorting test sensitive to frontal lobe defects. Cortex 12: 313-324
19. Orozco G, Estrada R, Perry TL, et al (1989) Dominantly inherited olivopontocerebellar atrophy from eastern Cuba. Clinical, neuropathological, and biochemical findings. J Neurol Sci 93: 37-50
20. Pulst SM, Nechiporuk A, Nechiporuk T, et al (1996) Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet 7: 367-371
21. Riess O, Laccone FA, Gispert S, et al (1997) SCA2 trinucleotide expansion in German SCA patients. Neurogenetics 1: 59-64
22. Sanpei K, Takano H, Igarashi S, et al (1996) Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nat Genet 14: 277-284