Document Detail

Progressive myoclonus epilepsy with focal brainstem degeneration and paternal inheritance. An autopsy report of 4 cases from 2 pedigrees.
MedLine Citation:
PMID:  8925594     Owner:  NLM     Status:  MEDLINE    
Four autopsied cases of myoclonus, ataxia, and epilepsy from 2 separate pedigrees are described. An identical pattern of focal brainstem lesions was found in all the cases with selective and symmetrical degeneration of the dentate and second order somatosensory nuclei. The combined clinical and pathological features did not appear to match any familial disorder previously described as causing progressive myoclonus epilepsy. Myoclonus epilepsy with ragged red fibres was excluded on the grounds of paternal inheritance and negative muscle biopsy findings, but the more acute lesions seen in 1 case are reminiscent of those found in Leigh's syndrome, and suggest that some other form of inherited defect of oxidative metabolism may be involved.
T H Moss; D L Stevens; M J Campbell
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Clinical neuropathology     Volume:  15     ISSN:  0722-5091     ISO Abbreviation:  Clin. Neuropathol.     Publication Date:    1996 Mar-Apr
Date Detail:
Created Date:  1996-11-18     Completed Date:  1996-11-18     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  8214420     Medline TA:  Clin Neuropathol     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  106-12     Citation Subset:  IM    
Department of Neuropathology, Frenchay Hospital, Bristol, UK.
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MeSH Terms
Brain Stem / pathology*
Cerebellar Nuclei / pathology
Epilepsies, Myoclonic / genetics,  pathology*
Nerve Degeneration*

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