Early-onset cerebellar ataxia (EOCA) with retained reflexes: Reduced cerebellar benzodiazepine-receptor binding, progressive metabolic and cognitive impairment

Movement Disorders

Volumn 13, Issue 4, 1998, Pages 739-745

  Mielke, Rüdiger ^a   Hilker, Rüdiger ^a   Weber Luxenburger, Gerald ^a   Kessler, Josef ^a   Heiss, Wolf Dieter ^a  

^a MAX PLANCK INSTITUTE FOR NEUROLOGICAL RESEARCH   (Germany)

Author keywords

Cognitive decline; Early onset cerebellar ataxia; Flumazenil binding; GABA receptor; Neuropsychologic testing; Regional cerebral glucose metabolism

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR; BENZODIAZEPINE RECEPTOR; CARBON 11; FLUMAZENIL; FLUORODEOXYGLUCOSE F 18;

ADOLESCENT; ADULT; ARTICLE; BRAIN METABOLISM; CASE REPORT; CEREBELLAR ATAXIA; CEREBELLUM; COGNITIVE DEFECT; DEPTH PERCEPTION; DIAGNOSTIC VALUE; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; FEMALE; FRIEDREICH ATAXIA; GLUCOSE METABOLISM; HUMAN; MALE; METABOLIC DISORDER; MOTOR DYSFUNCTION; OLIVOPONTOCEREBELLAR ATROPHY; ONSET AGE; POSITRON EMISSION TOMOGRAPHY; PRIORITY JOURNAL; RECEPTOR BINDING; TENDON REFLEX; THALAMUS;

ADULT; BLOOD GLUCOSE; BRAIN MAPPING; CEREBELLUM; COGNITION DISORDERS; DIAGNOSIS, DIFFERENTIAL; ENERGY METABOLISM; FEMALE; FLUMAZENIL; FOLLOW-UP STUDIES; HUMANS; MALE; NEUROPSYCHOLOGICAL TESTS; RECEPTORS, GABA-A; REFLEX, STRETCH; SPINOCEREBELLAR DEGENERATIONS; TOMOGRAPHY, EMISSION-COMPUTED;

EID: 0031828620     PISSN: 08853185     EISSN: None     Source Type: Journal    
DOI: 10.1002/mds.870130423     Document Type: Article

References (25)

1. Harding AE. Early onset cerebellar ataxia with retained tendon reflexes: a clinical and genetic study of a disorder distinct from Friedreich's ataxia. J Neurol Neurosurg Psychiatry 1981;44:503-508.
2. Claus D. Zur Differentialdiagnostik der Friedreich Ataxie. Nervenarzt 1989;60:26-31.
3. Özeren A, Arac N, Ülkü A. Early-onset cerebellar ataxia with retained tendon reflexes. Acta Neurol Scand 1989;80:593-597.
4. Filla A, De Michele G, Cavalcanti F, et al. Clinical and genetic heterogeneity in early onset cerebellar ataxia with retained reflexes. J Neurol Neurosurg Psychiatry 1990;53:667-670.
5. Klockgether T, Petersen D, Grodd W, Dichgans J. Early onset cerebellar ataxia with retained tendon reflexes. Clinical, electrophysiological and MRI observations in comparison with Friedreich's ataxia. Brain 1991;114:1559-1573.
6. Chiò A, Orsi L, Mortara P, Schiffer D. Early onset cerebellar ataxia with retained tendon reflexes: prevalence and gene frequency in an Italian population. Clin Genet 1993;43:207-211.
7. Santoro L, Perretti A, Filla A, et al. Is early onset cerebellar ataxia with retained tendon reflexes identifiable by electrophysiologic and histologic profile? A comparison with Friedreich's ataxia. J Neurol Sci 1992;113:43-49.
8. Kumar D, Blanck CE. Early onset hereditary spinocerebellar ataxia: an autosomal recessive disorder distinct from Friedreich's ataxia. Indian Pediatr 1989;26:1014-1019.
9. Fickler A. Klinische und pathologisch-anatomische Beiträge zu den Erkrankungen des Kleinhirns. Deutsche Z Nervenheilkunde 1911;41:306-315.
10. Folstein MF, Folstein SE, McHugh PR. 'Mini-Mental-State' - a practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res 1975;12:189-198.
11. Horn W. Leistungs-Prüf-System. Göttingen: Hogrefe Verlag, 1962.
12. Schaaf A, Kessler J, Grond M, Fink G. Memo test. Ein verbaler Gedächtnistest nach der Methode des selektiven Erinnerns. Weinheim: Beltz-Test-Verlag, 1992.
13. Spreen O, Strauss E. A Compendium of Neuropsychological Tests. New York, Oxford: Oxford University Press, 1991:157-167.
14. Taylor LB. In: Spreen O, Strauss E, eds. A Compendium of Neuropsychological Tests. New York, Oxford: Oxford University Press, 1991:161-164.
15. Wechsler D. Wechsler Memory Scale - Revised. New York, NY: Psychological Corp, 1987.
16. Milner B. Interhemispheric differences and psychological processes. Br Med Bull 1971;27:273-277.
17. Smirini P, Villardita C, Zappala G. Influence of different paths on spatial memory performance in the Block-Tapping test. J Clin Neuropsychol 1983;111:67-71.
18. Spreen O, Strauss E. A Compendium of Neuropsychological Tests. New York, Oxford: Oxford University Press, 1991:221-229.
19. Oswald WD, Roth E. Der Zahlen-Verbindungs-Test (ZVT). Göttingen: Hogrefe Verlag, 1987.
20. Frey KA, Groom GN, Koeppe RA, Kuhl DE. Comparison of kinetic and equilibrium PET measurements of (11C) flumazenil binding to human benzodiazepine receptors. J Cereb Blood Flow Metab 1993;13(suppl 1):S794.
21. Wienhard K, Pawlik G, Herholz K, Wagner R, Heiss WD. Estimation of local cerebral glucose utilization by positron emission tomography of (18F)-2-fluoro-2-deoxy-D-glucose: a critical appraisal of optimization procedures. J Cereb Blood Flow Metab 1985;5:115-125.
22. Pietrzyk U, Herholz K, Fink G, et al. An interactive technique for three-dimensional image registration: validation for PET, SPECT, MRI and CT brain studies. J Nucl Med 1994;35:2011-2018.
23. Berent S, Giordani B, Gilman S, et al. Neuropsychological changes in olivopontocerebellar atrophy. Arch Neurol 1990;47:997-1001.
24. Schmahmann JD. An emerging concept. The cerebellar contribution to higher function. Arch Neurol 1991;48:1178-1187.
25. Chavoix C, Samson Y, Pappata S, et al. Positron emission tomography study of benzodiazepine receptors in Friedreich's ataxia. Can J Neurol Sci 1990;17:404-409.