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K Vahedi

Publications and source records attributed to K Vahedi.

59 records · Page 4Linked to original sources
PubMed1995

Autosomal dominant migraine with MRI white-matter abnormalities mapping to the CADASIL locus.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant cerebral arteriopathy mapped to chromosome 19 and characterized mainly by recurrent subcortical ischemic strokes and extensive white-matter signal abnormalities (WMAs) on magnetic resonance imaging. Other clinical features include migraine attacks and progressive subcortical dementia. Herein, we describe several members of the same family who suffered migraine attacks, mostly with aura, associated with WMAs, segregating with an autosomal dominant pattern of inheritance. One individual had a progressive subcortical dementia with similar WMAs. Although ischemic stroke, one of the hallmarks of CADASIL, was not present in this family, we hypothesized that the present disorder resulted from an alteration of the CADASIL gene. Genetic linkage analysis, using four chromosome 19 markers spanning the CADASIL locus, supports this hypothesis.

Adult↗
PubMed1994

Genetic heterogeneity of familial hemiplegic migraine.

Familial hemiplegic migraine (FHM) is an autosomal dominant variety of migraine with aura. We previously mapped a gene responsible for this disorder to the short arm of chromosome 19, within a 30-cM interval bracketed by D19S216 and D19S215. Linkage analysis conducted on two large pedigrees did not show any evidence of heterogeneity, despite their clinical differences due to the presence, in one family, of cerebellar ataxia and nystagmus. Herein we report linkage data on seven additional FHM families including another one with cerebellar ataxia. Analysis was conducted with a set of seven markers spanning the D19S216-D19S215 interval. Two-point and multipoint lod score analyses as well as HOMOG testing provided strong evidence for genetic heterogeneity. Strong evidence of linkage was obtained in two families and of absence of linkage in four families. The posterior probability of being of the linked type was > .95 in the first two families and < .01 in four other ones. It was not possible to draw any firm conclusion for the last family. Thus, within the nine families so far tested, four were linked, including those with associated cerebellar ataxia. We could not find any clinical difference between the pure FHM families regardless of whether they were linked. In addition to the demonstration of genetic heterogeneity of FHM, this study also allowed us to establish that the most likely location of the gene was within an interval of 12 cM between D19S413 and D19S226.

Ataxia↗
PubMedDate not supplied

Cognitive alterations in non-demented CADASIL patients.

CADASIL is an inherited small-artery disease of the brain due to mutations of the Notch3 gene on chromosome 19. It is characterized by strokes, migraine with aura, and severe mood disturbances during mid adulthood and leads progressively to subcortical dementia. The precise onset of the cognitive decline in CADASIL remains unknown. We report here the cognitive evaluation of 8 non-demented symptomatic patients with CADASIL from 35 to 66 years of age. Altered performances were found in all subjects with the Wisconsin Card-Sorting Test (WCST), in 5/8 with the Trail-Making Test, and in 3/8 with copying of Rey's figure. Altered performances with codes and similarities of the WAIS-R, the Wechsler Memory Scale, Raven's Progressive Matrices, and the category and letter fluency task were observed less frequently (n < or = 2). The score obtained with the WCST was not significantly correlated with the severity of the white-matter or basal ganglia signal abnormalities at MRI examination. Our data show that: (1) symptomatic CADASIL patients, although non-demented, can present with a subtle cognitive impairment; (2) tasks involving the frontal lobes are found most frequently altered, and (3) this subtle cognitive deficit can develop in the absence of major vascular events and does not appear to be correlated with the severity of brain lesions as seen at MRI examination.

Adult↗