Peripheral Nerve Involvement in Spinocerebellar Ataxias

Archives of Neurology

Volumn 61, Issue 2, 2004, Pages 257-261

  Van De Warrenburg, Bart P C ^a   Notermans, Nicolette C ^b   Schelhaas, Helenius J ^a   Van Alfen, Nens ^a   Sinke, Richard J ^b   Knoers, Nine V A M ^a   Zwarts, Machiel J ^a   Kremer, Berry P H ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CLINICAL ARTICLE; DISEASE ASSOCIATION; ELECTRODIAGNOSIS; ELECTROPHYSIOLOGY; FEMALE; GENE; GENE LOCUS; GENE MUTATION; GENOTYPE; HUMAN; MALE; NEUROPATHY; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; PROSPECTIVE STUDY; SCA1 GENE; SCA2 GENE; SCA3 GENE; SCA6 GENE; SCA7 GENE; SPINAL CORD VENTRAL HORN; SPINAL GANGLION; SPINOCEREBELLAR DEGENERATION;

ADULT; AGED; ANTERIOR HORN CELLS; AXONS; ELECTROMYOGRAPHY; ELECTROPHYSIOLOGY; FEMALE; GANGLIA, SPINAL; HUMANS; MALE; MIDDLE AGED; NEURONS; PERIPHERAL NERVES; PROSPECTIVE STUDIES; SENSATION; SPINOCEREBELLAR ATAXIAS; VIBRATION;

EID: 1042291156     PISSN: 00039942     EISSN: None     Source Type: Journal    
DOI: 10.1001/archneur.61.2.257     Document Type: Article

References (21)

1. Van de Warrenburg BP, Sinke RJ, Verschuuren-Bemelmans CC, et al. Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis. Neurology. 2002;58:702-708.
2. Abele M, Bürk K, Andres F, et al. Autosomal dominant cerebellar ataxia type I: nerve conduction and evoked potential studies in families with SCA1, SCA2 and SCA3. Brain. 1997;120:2141-2148.
3. Giunti P, Sabbadini G, Sweeney MG, et al. The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families: frequency, clinical and genetic correlates. Brain. 1998;121:459-467.
4. Klockgether T, Schöls L, Abele M, et al. Age related axonal neuropathy in spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD). J Neurol Neurosurg Psychiatry. 1999;66:222-224.
5. Kubis N, Dürr A, Gugenheim M, et al. Polyneuropathy in autosomal dominant cerebellar ataxias: phenotype-genotype correlation. Muscle Nerve. 1999;22: 712-717.
6. Perretti A, Santoro L, Lanzillo B, et al. Autosomal dominant cerebellar ataxia type I: multimodal electrophysiological study and comparison between SCA1 and SCA2 patients. J Neurol Sci. 1996;142:45-53.
7. Schöls L, Amoiridis G, Buttner T, et al. Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes? Ann Neurol. 1997;42: 924-932.
8. Wadia NH. A variety of olivopontocerebellar atrophy distinguished by slow eye movements and peripheral neuropathy. Adv Neurol. 1984;41:149-177.
9. Trouillas P, Takayanagi T, Hallett M, et al. International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome: the Ataxia Neuropharmacology Committee of the World Federation of Neurology. J Neurol Sci. 1997;145:205-211.
10. Notermans NC, Wokke JH, Franssen H, et al. Chronic idiopathic polyneuropathy presenting in middle or old age: a clinical and electrophysiological study of 75 patients. J Neurol Neurosurg Psychiatry. 1993;56:1066-1071.
11. Dyck PJ, Litchy WJ, Kratz KM, et al. A plasma exchange versus immune globulin infusion trial in chronic inflammatory demyelinating polyradiculoneuropathy. Ann Neurol. 1994;36:838-845.
12. Rutkove SB, Kothari MJ, Raynor EM, et al. Sural/radial amplitude ratio in the diagnosis of mild axonal polyneuropathy. Muscle Nerve. 1997;20:1236-1241.
13. Dimitru D, Zwart MJ. Needle electromyography. In: Dimitru D, Amato AM, Zwarts MJ, eds. Electrodiagnostic Medicine. Philadelphia, Pa: Hanley and Belfus Inc; 2002: 257-291.
14. Robitaille Y, Lopes-Cendes I, Becher M, Rouleau G, Clark AW. The neuropathology of CAG repeat diseases: review and update of genetic and molecular features. Brain Pathol. 1997;7:901-926.
15. Jöbsis GJ, Weber JW, Barth PG, et al. 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. 1997; 62:367-371.
16. Sasaki H, Kojima H, Yabe I, et al. Neuropathological and molecular studies of spinocerebellar ataxia type 6 (SCA6). Acta Neuropathol (Berl). 1998;95: 199-204.
17. Huynh DP, Figueroa K, Hoang N, Pulst SM. Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human. Nat Genet. 2000;26:44-50.
18. Parker JA, Connolly JB, Wellington C, et al. Expanded polyglutamines in Caenorhabditis elegans cause axonal abnormalities and severe dysfunction of PLM mechanosensory neurons without cell death. Proc Natl Acad Sci U S A. 2001; 98:13318-13323.
19. Rossi A, Ciacci G, Federico A, Mondelli M, Rizzuto N. Sensory and motor peripheral neuropathy in olivopontocerebellar atrophy. Acta Neurol Scand. 1986; 73:363-371.
20. Schöls L, Gispert S, Vorgerd M, et al. Spinocerebellar ataxia type 2: genotype and phenotype in German kindreds. Arch Neurol. 1997;54:1073-1080.
21. Van Alfen N, Sinke RJ, Zwarts MJ, et al. Intermediate CAG repeat lengths (53,54) for MJD/SCA3 are associated with an abnormal phenotype. Ann Neurol. 2001; 49:805-807.