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A clinico‐pathologico‐biochemical study of four autopsy cases of dentatorubropallidoluysian atrophy: With special reference to choreic movement
Author(s) -
Mizutani Yoshihiko,
Kondo Tomoyoshi
Publication year - 1996
Publication title -
neuropathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.701
H-Index - 61
eISSN - 1440-1789
pISSN - 0919-6544
DOI - 10.1111/j.1440-1789.1996.tb00156.x
Subject(s) - chorea , dentate nucleus , pathological , atrophy , cerebellar ataxia , ataxia , cerebellum , autopsy , movement disorders , pathology , medicine , neuroscience , psychology , disease
We evaluated four autopsy cases of dentatorubropallidoluysian atrophy (DRPLA) which had been diagnosed clinically as Huntington's chorea based on choreic movements, mental symptoms, and family history. These cases showed cerebellar ataxia at an early stage and developed choreic movements including a ballistic element. Pathological examination after autopsy revealed findings of DRPLA in all cases, although each case appeared to be in a different stage. Comparison of the clinical signs with the pathological findings suggests that the cerebellar ataxia observed clinically may have been related to pathological changes in the dentate nucleus of the cerebellum, and choreic movements may have been related to the pallidoluysian system, in particular, the nucleus of Luys. Biochemical analysis using frozen brain tissue revealed a decrease in γ‐aminobutyric acid (GABA) in the substantia nigra similar to that seen in Huntington's chorea in three cases. The findings of this study help to clarify the pathological processes that are responsible for the motor disturbances seen in patients with DRPLA.