J Neurol Neurosurg Psychiatry 56:900-905 doi:10.1136/jnnp.56.8.900
  • Research Article

Mitochondrial encephalomyopathy: variable clinical expression within a single kindred.

  1. D Crimmins,
  2. J G Morris,
  3. G L Walker,
  4. C M Sue,
  5. E Byrne,
  6. S Stevens,
  7. B Jean-Francis,
  8. C Yiannikas,
  9. R Pamphlett
  1. Department of Neurology, Westmead Hospital, Sydney, Australia.


      The clinical manifestations of mitochondrial encephalomyopathy are described in four generations of a single kindred. The age of onset of major neurological disturbance varied from 3-70 years. In some patients, deafness was the only manifestation; in others, recurrent bouts of status epilepticus associated with focal neurological deficits and headache, caused severe disability or death. Examples of all three adult forms of mitochondrial encephalomyopathy: MELAS, MERFF and Kearns Sayre syndrome, were represented within the kindred. Associated features included deafness, short stature, non-insulin-dependent diabetes mellitus, migraine, peptic ulceration and severe constipation. The nt 3243 A-G MELAS mutation was detected in two members of the kindred. This study highlights the diversity of clinical expression of a mitochondrial mutation within a single kindred.