Spinocerebellar ataxia type 2 with levodopa-responsive parkinsonism culminating in motor neuron disease

Movement Disorders

Volumn 19, Issue 7, 2004, Pages 848-852

  Infante, Jon ^a   Berciano, José ^a   Volpini, Victor ^b   Corral, Jordi ^b   Polo, José Miguel ^a   Pascual, Julio ^a   Combarros, Onofre ^a  

^a HOSPITAL UNIVERSITARIO MARQUÉS DE VALDECILLA   (Spain)

^b HOSPITAL DURAN I REYNALS   (Spain)

Author keywords

ALS; Parkinsonism; SCA2

Indexed keywords

CARBIDOPA; GENOMIC DNA; LEVODOPA;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE CLASSIFICATION; DNA DETERMINATION; FEMALE; GENE FREQUENCY; GENETIC ANALYSIS; HUMAN; MALE; MOTOR NEURON DISEASE; NEUROPATHOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; PARKINSONISM; PATHOGENESIS; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; SPINOCEREBELLAR DEGENERATION; SYMPTOMATOLOGY;

ALLELES; ANTIPARKINSON AGENTS; ATROPHY; BRAIN STEM; FEMALE; HUMANS; LEVODOPA; MAGNETIC RESONANCE IMAGING; MIDDLE AGED; MOTOR NEURON DISEASE; PARKINSONIAN DISORDERS; PEDIGREE; PHENOTYPE; SPINOCEREBELLAR ATAXIAS;

EID: 4344676312     PISSN: 08853185     EISSN: None     Source Type: Journal    
DOI: 10.1002/mds.20090     Document Type: Article

References (35)

1. Pulst SM, Nechiporuk A, Nechiporuk T, et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet 1996;14:269-276.
2. Sanpei K, Takano H, Igarashi S, et al. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nat Genet 1996;14: 277-284.
3. Imbert G, Saudou F, Ybert G, et al. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet 1996;14:285-291.
4. Dürr A, Smadja D, Cancel G, et al. Autosomal dominant cerebellar ataxia type I in Martinique (French West Islands). Clinical and neuropathological analysis of 53 patients from three unrelated SCA2 families. Brain 1995;118:1573-1581.
5. Bürk K, Abele M, Fetter J, et al. Autosomal dominant cerebellar ataxia type I. Clinical features and MRI in families with SCA1, SCA2 and SCA3. Brain 1996;119:1497-1505.
6. Filla A, De Michele G, Campanella G, et al. Autosomal dominant cerebellar ataxia type I. Clinical and molecular study of 36 Italian families including comparison between SCA1 and ACA2 phenotypes. J Neurol 1996;142:140-147.
7. Schöls L, Gispert S, Vorgerd M, et al. Spinocerebellar ataxia type 2. Genotype and phenotype in German kindreds. Arch Neurol 1997;54:1073-1080.
8. Giunti P, Sabbadini G, Sweeney MG, et al. The role of the SAC2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates. Brain 1998;121:459-467.
9. Pujana MA, Corral J, Gratacòs M, et al. Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases. Hum Genet 1999;104:516-522.
10. Harding AE. "Idiopathic" late onset cerebellar ataxia. A clinical and genetic study of 36 cases. J Neurol Sci 1981;51:259-271.
11. Berciano J. Olivopontocerebellar atrophy. A review of 117 cases. J Neurol Sci 1982;53:253-272.
12. Quinn N. Multiple system atrophy. In: Marsden CD, Fahn S, editors. Movement disorders, 3. London: Butterworth-Heineman; 1994. p 262-281.
13. Berciano J, Combarros O, Oterino A, Pascual J. Multiple system atrophy culminating in motor neuron disease. Mov Disord 1996; 11(Suppl.):26.
14. Wenning GK, Ben Shlomo Y, Magalhães M, Daniel SE, Quinn NP. Clinical features and natural history of multiple system atrophy. An analysis of 100 cases. Brain 1994;117:835-845.
15. Pascual J, Pazos A, del Olmo E, Figols J, Leno C, Berciano J. Presynaptic parkinsonism in olivopontocerebellar atrophy: clinical, pathological, and neurochemical evidence. Ann Neurol 1991;30: 425-428.
16. Berciano J, Valldeoriola F, Ferrer I, et al. Presynaptic parkinsonism in multiple system atrophy mimicking Parkinson's disease: a clinicopathological case study. Mov Disord 2002;17:812-816.
17. Kulawik H, Roitzsch E, Barz H. Zum Krankheitsbild der olivoponto-cerebellaren Atrophic (Déjérine-Thomas). Psychiat Neurol Med Psychol (Leipzig) 1972;3:119-127.
18. Sima AAF, Caplan M, D'Amato CJ, Pevzner M, Furlong JW. Fulminant multiple system atrophy in a young adult presenting as motor neuron disease. Neurology 1993;43:2031-2035.
19. Klockgether T, Skalej M, Wedekind D, 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;121:1687-1693.
20. Estrada R, Galarraga J, Orozco G, Nodarse A, Auburger G. Spinocerebellar ataxia 2 (SCA2): morphometric analyses in 11 autopsies. Acta Neuropathol (Berl) 1999;97:303-311.
21. Sasaki H, Fukazawa T, Wakisaka A, et al. Central phenotype and related varieties of spinocerebellar ataxia 2 (SCA2): a clinical and genetic study with a pedigree in the Japanese. J Neurol Sci 1996; 144:176-181.
22. Sasaki H, Wakisaka A, Sanpei K, et al. Phenotype variation correlates with CAG repeat length in SCA2. A study of 28 Japanese patients. J Neurol Sci 1998;159:202-208.
23. Ueyama H, Kumamoto T, Nagao S, Mita S, Uchino M, Tsuda T. Clinical and genetic studies of spinocerebellar ataxia type 2 in Japanese kindreds. Acta Neurol Scand 1998;98:427-432.
24. Lee WY, Jin DK, Oh MR, et al. Frequency analysis and clinical characterization of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Korean patients. Arch Neurol 2003;60:858-863.
25. Schöls L, Peters S, Szymanski S, et al. Extrapyramidal motor signs in degenerative ataxias. Arch Neurol 2000;57:1495-1500.
26. Gwinn-Hardy K, Chen JY, Liu HC, et al. Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese. Neurology 2000;55: 800-805.
27. Shan DE, Soong BW, Sun CM, Lee SL Liao KM, Liu RS. Spinocerebellar ataxia type 2 as familial levodopa-responsive parkinsonism. Ann Neurol 2001;50:812-815.
28. Furtado S, Farrer M, Tsuboi Y, et al. SCA-2 presenting as parkinsonism in an Alberta family. Clinical, genetic, and PET findings. Neurology 2002;59:1625-1627.
29. Payami H, Nutt J, Gancher S, et al. SCA2 may present as levodopa-responsive parkinsonism. Mov Disord 2002;18:425-429.
30. Lu CS, Chou YW, Yen TC, Tsai CH, Chen RS, Chang HC. Dopa-responsive parkinsonism phenotype of spinocerebellar type 2. Mov Disord 2002;17:1046-1051.
31. Pareyson D, Gellera C, Castellotti B, et al. Clinical and molecular studies of 73 Italian families with autosomal dominant cerebellar ataxia type 1: SCA1 and SCA2 are the most common phenotypes. J Neurol 1999;246:389-393.
32. Bürk K, Stevanin G, Didierjean O, et al. Clinical and genetic analysis of three German kindreds with autosomal dominant cerebellar ataxia type I linked to the SCA2 locus. J Neurol 1997;244: 256-261.
33. Berciano J, Ricoy JR, Rebollo M, Combarros O, Coria F, Val F. Atrofia olivopontocerebelosa familiar (tipo Menzel). A propósito de una estirpe seguida durante 46 años. Arch Neurobiol (Madrid) 1983;46:51-58.
34. Quinn N. Disproportionate antecollis in multiple system atrophy. Lancet 1989;1:844.
35. Gourie-Devi M, Nalini A, Sandhya S. Early or late appearance of "dropped head syndrome" in amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry 2003;74:683-686.