Effects of gender on the phenotype of CADASIL.
OBJECTIVE
In the general population, migraine, cerebrovascular diseases, and vascular dementia differ in many aspects between men and women. CADASIL is considered a unique model to investigate migraine with aura, stroke, and dementia related to ischemic small vessel disease. This study aims to evaluate the effect of gender on the main clinical and neuroimaging characteristics of CADASIL.


METHODS
Cross-sectional data from 313 CADASIL patients including various clinical and cognitive scores and MRI parameters were compared between men and women, and between those younger and older than the median age of the population corresponding to the usual age of menopause (51 years).


RESULTS
At younger than 51 years, migraine with aura was 50% more prevalent in women and stroke was 75% more prevalent in men. After the fifth decade, men had higher National Institutes of Health Stroke Scale and Rankin scores than women and more severe executive dysfunction, although global cognitive scores were similar. Age at first stroke, the number of stroke events, and the prevalence of dementia and psychiatric symptoms did not differ between men and women. Brain volume was lower in men with a trend for a larger volume of lacunar infarcts.


CONCLUSIONS
In CADASIL, migraine with aura is more frequent in women and stroke is more frequent in men before the age of menopause. This difference seems to vanish after this age limit but may result in a higher degree of cognitive impairment and cerebral atrophy in men at the late stage of the disease. The presumable role of ovarian hormones in these gender-related differences remains to be explored.
Department of Neurology, CHU Lariboisière, APHP and Université Paris VII, Paris, France.
Bence
B
Gunda
Dominique
D
Hervé
Ophelia
O
Godin
Martina
M
Bruno
Sonia
S
Reyes
Nassira
N
Alili
Christian
C
Opherk
Eric
E
Jouvent
Marco
M
Düring
Marie-Germaine
MG
Bousser
Martin
M
Dichgans
Hugues
H
Chabriat
D000328:Adult; D000367:Age Factors; D002545:Brain Ischemia / Q000235:genetics* / Q000503:physiopathology / Q000523:psychology; D046589:CADASIL / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology / Q000523:psychology; D003430:Cross-Sectional Studies; D056344:Executive Function; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D020325:Migraine with Aura / Q000235:genetics* / Q000503:physiopathology / Q000523:psychology; D010641:Phenotype; D012737:Sex Factors; D020521:Stroke / Q000235:genetics* / Q000503:physiopathology / Q000523:psychology