Olfactory identification deficits in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.
OBJECTIVE
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited angiopathy caused by mutations of the Notch 3 gene. Olfactory identification deficits are present in a number of neurodegenerative disorders. However, olfaction has not been investigated in CADASIL. The aim of the present study was to assess olfactory identification in CADASIL and to determine whether there is an association between olfactory identification and the frontotemporal lobe.


METHODS
Twenty-seven patients and 27 control subjects had an olfactory identification test and neuropsychological testing. Brain MRIs were obtained from 25 patients. Involvement of frontal white matter, anterior temporal white matter and the external capsule were measured.


RESULTS
Olfactory identification scores were lower in CADASIL patients than in healthy comparison subjects. The Mini-Mental Status Examination (MMSE) and semantic Controlled Oral Word Association Test (COWAT) were also affected. In CADASIL patients, olfactory identification scores correlated with MMSE, COWAT scores and Scheltens' scores from frontal white matter. The tendency for an association between olfactory identification scores and Scheltens' scores from anterior temporal white matter was also observed.


CONCLUSIONS
Our findings suggest that olfactory identification deficits may be a sensitive indicator of frontotemporal dysfunction in CADASIL.
Department of Neurology, Jeju National University College of Medicine, Seoul, Korea.
Jung Seok
JS
Lee
Jay Chol
JC
Choi
Sa-Yoon
SY
Kang
Ji-Hoon
JH
Kang
Sang Hun
SH
Lee
Jeong Hong
JH
Kim
SangYun
S
Kim
D000328:Adult; D000368:Aged; D001921:Brain / Q000473:pathology; D046589:CADASIL / Q000150:complications*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008609:Mental Status Schedule; D008875:Middle Aged; D009483:Neuropsychological Tests; D000857:Olfaction Disorders / Q000175:diagnosis / Q000209:etiology*