[Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy--report of an autopsied Japanese case].
We report a 75-year old Japanese man with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). His family had no consanguinous marriage and his grandfather had migraine attacks. His father showed uncontrollable emotion at the age of 59 followed by gait disturbance, disorientation, pseudobulbar palsy and died at the age of 63. The patient had migraine attacks with aura since 10 year-old and showed uncontrolableness of his emotion and gait disturbance at the age of 63 followed by disorientation, urinary incontinence and pseudobulbar palsy, and died from aspiration pneumonia at the age of 75. The postmortem examination revealed an arteriopathy in the cerebral white matter and meningeal vessels and multiple infarctions in the cerebral white matter corpus callosum, basal ganglia, middle cerebellar peduncle and pontine tegmentum. The affected arterial walls showed eosinophilic and periodic acid Schiff (PAS)-positive granules in the media, which were composed of numerous electron dense small granules in varying sizes on electron microscopic examinations. These granules showed complements (Clq, C3, C4)-like immunoreactivity but did not have IgG-, IgM-, IgA-, kappa and lambda chain-, or beta-amyloid-like immunoreactivities. The clinicopathological features in this patient were compatible with those reported as CADASIL in the European countries and this is the first case report of CADASIL in Japanese race.
Nishio
T
T
Department of Neurology, Musashi Hospital, National Center of Neurology and Psychiatry.
Arima
K
K
Eto
K
K
Ogawa
M
M
Sunohara
N
N
D000368:Aged; D001921:Brain / Q000473:pathology*; D002539:Cerebral Arterial Diseases / Q000235:genetics / Q000473:pathology*; D002536:Cerebral Arteries / Q000473:pathology; D002544:Cerebral Infarction / Q000235:genetics / Q000473:pathology*; D017809:Fatal Outcome; D005799:Genes, Dominant; D006801:Humans; D007968:Leukoencephalopathy, Progressive Multifocal / Q000235:genetics / Q000473:pathology*; D008297:Male