Autosomal dominant syndrome with strokelike episodes and leukoencephalopathy.
OBJECTIVE
We conducted a prospective survey of a family presenting a new syndrome characterized mainly by recurrent strokelike episodes and neuroimaging evidence of leukoencephalopathy.


METHODS
Forty-five members of a single family were studied clinically and with magnetic resonance imaging. Nine had strokelike episodes, including transient ischemic attacks, and minor or major strokes starting between the fourth and sixth decades, with neuroimaging evidence of small, deep infarcts and a widespread white matter disorder. Other symptoms included migraine (three), dementia (two), epilepsy (one), and hearing loss (one). In some patients, we found various immunologic anomalies and muscular lipidosis without ragged-red fibers. Eight other family members were clinically normal, but had identical neuroimaging signs of leukoencephalopathy. No abnormality was detected in the 28 other members of the family examined. Extensive investigations failed to reveal any known cause of cerebral ischemia.


CONCLUSIONS
There appears to be a new syndrome in this family that is characterized by recurrent subcortical strokelike episodes, leukoencephalopathy, immunologic anomalies, muscular lipidosis, and an autosomal dominant pattern of transmission.
Unité de Pathologie de l'Immunité, Faculté de Médecine Necker, Paris, France.
E
E
Tournier-Lasserve
M T
MT
Iba-Zizen
N
N
Romero
M G
MG
Bousser
D000328:Adult; D002545:Brain Ischemia / Q000473:pathology; D002561:Cerebrovascular Disorders / Q000235:genetics* / Q000473:pathology; D003704:Dementia / Q000473:pathology; D004827:Epilepsy / Q000473:pathology; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D007968:Leukoencephalopathy, Progressive Multifocal / Q000235:genetics* / Q000473:pathology; D008064:Lipidoses / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D008881:Migraine Disorders / Q000473:pathology; D010375:Pedigree; D011446:Prospective Studies; D013577:Syndrome