Cervical dystonia in spinocerebellar ataxia type 2: Clinical and polymyographic findings

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 78, Issue 5, 2007, Pages 520-522

  Boesch, S M ^a   Muller J ^a   Wenning, G K ^a   Poewe, Werner ^a  

^a INNSBRUCK MEDICAL UNIVERSITY   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; ATAXIA; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE DURATION; DISEASE SEVERITY; DYSTONIA; ELECTROMYOGRAM; FEMALE; GAIT DISORDER; HUMAN; MALE; MUSCLE CONTRACTION; MUSCLE SPASM; NECK MUSCLE; NEUROLOGIC EXAMINATION; PHENOTYPE; PRIORITY JOURNAL; SCORING SYSTEM; SPINOCEREBELLAR ATAXIA TYPE 2; SPINOCEREBELLAR DEGENERATION; STERNOCLEIDOMASTOID MUSCLE; TRAPEZIUS MUSCLE; CASE REPORT; GENETICS; MIDDLE AGED; MYOGRAPHY; PATHOLOGY; PEDIGREE; TORTICOLLIS;

ADULT; FEMALE; HUMANS; MALE; MIDDLE AGED; MYOGRAPHY; PEDIGREE; SPINOCEREBELLAR ATAXIAS; TORTICOLLIS;

EID: 34247191494     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp.2006.098376     Document Type: Article

References (20)

1. Imbert G, Saudou F, Yvert 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;14:285-91.
2. Durr A, Smadja D, Cancel G, et al. Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies). Clinical and neuropathological analysis of 53 patients from three unrelated SCA2 families. Brain 1995;118(Pt 6):1573-81.
3. Estrada R, Galarraga J, Orozco G, et al. Spinocerebellar ataxia 2 (SCA2): morphometric analyses in 11 autopsies. Acta Neuropathol (Bed) 1999;97:306-10.
4. Gwinn-Hardy K, Chen JY, Liu HC, et al. Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese. Neurology 2000;55:800-5.
5. Furtado S, Payami H, Lockhart PJ, et al. Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2). Mov Disord 2004;19:622-9.
6. Boesch SM, Donnemiller E, Muller J, et al. Abnormalities of dopaminergic neurotransmission in SCA2: a combined 123I-betaCIT and 123I-IBZM SPECT study. Mov Disord 2004;19:1320-5.
7. Klockgether T, Schroth G, Diener HC. et al. Idiopathic cerebellar ataxia of late onset: natural history and MRI morphology. J Neurol Neurosurg Psychiatry 1990;53:297-305.
8. Fahn S. Concept and classification of dystonia. Adv Neurol 1988;50:1-8.
9. Tsui JK, Eisen A, Stoessl AJ, et al. Double-blind study of botulinum toxin in spasmodic torticollis. Lancet 1986;2:245-7.
10. Deuschl G, Heinen F, Kleedorfer B, et al. Clinical and polymyographic investigation of spasmodic torticollis. J Neurol 1992;239:9-15.
11. Wissel J, Muller J, Ebersbach G, et al. Trick maneuvers in cervical dystonia: investigation of movement- and touch-related changes in polymyographic activity. Mov Disord 1999;14:994-9.
12. Muller J, Wissel J, Masuhr F, et al. Clinical characteristics of the geste anragoniste in cervical dystonia. J Neurol 2001;248:478-82.
13. Cancel G, Durr A, Didierjean O, et al. Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families. Hum Mol Genet 1997;6:709-15.
14. 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(Pt 3):459-67.
15. Zaruba K, Ruzicka E, Mazanec R, et al. Cervical dystonia in spinocerebellar ataxia type 2. Mov Disord 2004;19(Suppl 9):S20.
16. Hallett M. The neurophysiology of dystonia. Arch Neurol 1998;55:601 -3.
17. LeDoux MS, Brady KA. Secondary cervical dystonia associated with structural lesions of the central nervous system. Mov Disord 2003;18:60-9.
18. Sethi KD, Jankovic J. Dystonia in spinocerebellar ataxia type 6. Mov Disord 2002;17:150-3.
19. Wilder-Smith E, Tan EK, Law HY, et al. Spinocerebellar ataxia type 3 presenting as an L-DOPA responsive dystonia phenorype in a Chinese family. J Neurol Sci 2003;213:25-8.
20. Wu YR, Lee-Chen GJ, Lang AE, et al. Dystonia as a presenting sign of spinocerebellar ataxia type I. Mov Disord 2004;19:586-7.