An autopsied case of dentatorubropallidoluysian atrophy with atypical pathological features.
This is a report of an autopsied case of dentatorubropallidoluysian atrophy (DRPLA) with atypical neuropathological findings. The patients was a 31-year-old female. Her clinical symptoms were epileptic seizures, cerebellar ataxia, choreoathetosis and dementia. A neuropathological examination revealed the fibrillary gliosis in various areas of the CNS and severe degeneration in the cerebellar cortex and nucleus fasciculi dorsalis in addition to a marked degeneration of the dentatorubropallidoluysian systems. The present case is diagnosed neuropathologically as DRPLA associated with the findings of chronic diphenylhydantoin intoxication and epileptic brain damage.
Mizukami
K
K
Department of Psychiatry, University of Tsukuba, Japan.
Sasaki
M
M
Shiraishi
H
H
Koizumi
J
J
Ogata
T
T
Kosaka
K
K
D001284:Atrophy; D002525:Cerebellar Cortex / Q000473:pathology; D002529:Cerebellar Nuclei / Q000473:pathology*; D003704:Dementia / Q000235:genetics* / Q000473:pathology; D004830:Epilepsy, Tonic-Clonic / Q000235:genetics* / Q000473:pathology; D005260:Female; D005911:Gliosis / Q000473:pathology; D005917:Globus Pallidus / Q000473:pathology*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D009186:Myelin Sheath / Q000473:pathology; D016874:Neurofibrillary Tangles / Q000648:ultrastructure; D012012:Red Nucleus / Q000473:pathology*; D013132:Spinocerebellar Degenerations / Q000235:genetics* / Q000473:pathology; D013577:Syndrome