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Early‐onset cerebellar ataxia (EOCA) with retained reflexes: Reduced cerebellar benzodiazepine‐receptor binding, progressive metabolic and cognitive impairment
Author(s) -
Mielke RÜDiger,
Hilker RÜDiger,
WeberLuxenburger Gerald,
Kessler Josef,
Heiss WolfDieter
Publication year - 1998
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.870130423
Subject(s) - cerebellum , flumazenil , olivopontocerebellar atrophy , cerebellar ataxia , ataxia , neuroscience , psychology , thalamus , cerebellar degeneration , intention tremor , benzodiazepine , endocrinology , medicine , central nervous system disease , degenerative disease , receptor
A family with two members who had early‐onset cerebellar ataxia (EOCA) with retained tendon reflexes had, in addition to their motor deficits, a progressive impairment of cognitive and visuospatial abilities. We used positron emission tomography (PET) with 11 C‐flumazenil to study gammaaminobutyric type A/benzodiazepine receptor binding (BZR) and 18 F‐2‐fluoro‐2‐deoxy‐D‐glucose to analyze longitudinally regional cerebral glucose metabolism. Flumazenil‐PET demonstrated loss of BZR binding that has not been shown in Friedreich's ataxia and olivopontocerebellar atrophy. These findings may be useful for differentiation of EOCA from other types of cerebellar ataxia. In comparison to age‐matched control subjects, these patients showed a global metabolic decline and predominant hypometabolism in the thalamus and cerebellum. The progressive metabolic derangement may be explainable by a disturbed integrity of cognition‐related networks resulting from secondary degeneration of cerebello‐thalamo‐cortical projections.