Rapid-onset dystonia-parkinsonism in a second family

Neurology

Volumn 48, Issue 4, 1997, Pages 1066-1069

  Brashear, A ^a,d   DeLeon, D ^b   Bressman, S B ^b   Thyagarajan, D ^b   Farlow, M R ^a   Dobyns, W B ^c  

^a INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b New York State Psychiat Inst and New York Presbyterian Hospital Columbia University Medical Center   (United States)

^c UNIVERSITY OF MINNESOTA   (United States)

^d NONE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARBIDOPA PLUS LEVODOPA;

ADULT; ARTICLE; BRADYKINESIA; CASE REPORT; DYSARTHRIA; DYSPHAGIA; DYSTONIA; FEMALE; HUMAN; MALE; MUSCLE SPASM; PARKINSONISM; PRIORITY JOURNAL;

EID: 0030950937     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.48.4.1066     Document Type: Article

References (13)

1. Dobyns WB, Ozelius JL, Kramer PL, et al. Rapid-onset dystonia-parkinsonism. Neurology 1993;43:2596-2602.
2. Brashear A, Farlow MR, Butler IJ, Kasarskis EJ, Dobyns WB. Variable phenotype of rapid-onset dystonia-parkinsonism. Mov Disord 1996;11(suppl 2):151-156.
3. Burke RE, Fahn S, Marsden CD, Bressman SB, Moskowitz C, Friedman J. Validity and reliability of a rating scale for the primary torsion dystonias. Neurology 1985;35:73-77.
4. Lang AE, Fahn S. Assessment of Parkinson's disease. In: Munsat TL, ed. Quantification of neurologic deficit. Boston: Butter-worths, 1989:285-309.
5. Novotny EJ, Singh G, Wallace DC, et al. Lebert's disease and dystonia: a mitochondrial disease. Neurology 1986;36:1053-1060.
6. Thyagarajan D, Shanske S, Vazquez-Memije M, DeVivo D, DiMauro S. A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis. Ann Neurol 1995;38:468-472.
7. DeVries DD, Went LN, Bruyn GW, et al. Genetic and biochemical impairment of mitochondrial Complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia. Am J Hum Genet 1996;58:703-711.
8. DeVries D, van Engelen B, Gabreëls F, Ruitenbeek W, van Oost B. A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. Ann Neurol 1993;34:410-412.
9. Santorelli F, Shanske S, Macaya A, DeVivo D, DiMauro S. The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome. Ann Neurol 1993;34:827-834.
10. Koga Y, Matsuishi T, Yoshino Y, Kato H. Widespread tissue distribution and high percentage of an A to G transition at nt 3243 of mitochondrial tRNA Leu (UUR) gene associated with clinico-pathologically defined Leigh's disease - a final common outcome for severe defects of the OXPHOS genes [abstract]. Am J Hum Genetics 1995;57(suppl):1963.
11. Howel N, Kubacka I, Smith R, Frerman F, Parks JK, Parker WD. Association of the mitochondrial 8344 MERRF mutation with maternally inherited spinocerebellar degeneration and Leigh disease. Neurology 1996;46:219-222.
12. Nygaard TG, Marsden CD, Duvoisin RC. Dopa-responsive dystonia. Adv Neurol 1988;50:377-384.
13. Kupke KG, Lee LV, Viterbo GH, Arancillo J, Donlon T, Muller U. X-linked recessive torsion dystonia in the Philippines. Am J Med Genet 1990;36:237-242.