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We analyzed the clinical phenotype and determined the recurrence risks to relatives of patients with T14484C Leber's hereditary optic neuropathy (LHON). LHON is a maternally inherited optic neuropathy that primarily affects adolescent males. It is usually associated with one of three mtDNA mutations: G3460A, G11778A, or T14484C. Definition of recurrence(More)
The eye movements of a patient with a left lateral medullary infarct (Wallenberg's syndrome) were recorded using the scleral search coil in magnetic field technique. When asked to look at spontaneously appearing targets, saccades to the left were generally accurate but those to the right reached the target by multiple step refixation saccades. Large(More)
Wistar rats learned to withhold consumption of a target solution when morphine preceded presentation of the target solution and lithium chloride (LiCl) and to consume the same target solution when saline preceded the presentation of the solution. After this serial feature discrimination training, morphine did not block the formation of a Pavlovian(More)
OBJECTIVE To report the clinical manifestations and functional aspects of Tuberous Sclerosis Complex (TSC), resulting from Codon 905 mutations in TSC2 gene. METHODS We performed a detailed study of the TSC phenotype and genotype in a large French-Canadian kindred (Family A). Subsequently, clinical and molecular data on 18 additional TSC families with(More)
We reviewed the case records and radiographic studies of 41 patients with primary position downbeat nystagmus seen during a 5-year period to investigate whether a relationship existed between dolichoectasia of the vertebrobasilar artery and cases of unknown cause. The cause of downbeat nystagmus could not be determined in 12 cases (29%). Two of these cases(More)
Since the observation by Bridges of a few mosaics containing haploid tissue in Drosophila, specimens supposedly haploid have rarely been found. A technique for the easy production of haploid animals or tissues could have important applications. We have now successfully designed such a technique by the production of chimaeras obtained by transplantation of(More)
The clinical spectrum of electrical injuries is complex and diverse. Despite the high annual incidence of electrical accidents, little has been reported recently regarding the neurological deficits associated with this form of trauma. The most frequently cited reviews are those of Critchley, Langworthy, Naville and De Morsier, and Silversides. These authors(More)
We assessed visual function after recovery from optic neuritis in 15 consecutive patients using five objective tests: colour vision testing with Ishihara colour plates and with D15 colour desaturated spots, Humphrey automated perimetry, contrast acuity testing with Regan letter charts and testing of visual evoked response (VER). Recovery of visual function(More)
A 27-year-old man developed a persistent bitemporal hemianopia after severe head trauma sustained in a high-speed motor vehicle accident. The initial brain MRI revealed hemorrhagic contusion of the optic chiasm. A brain MRI performed 4 weeks later demonstrated complete chiasmal transection, a phenomenon rarely documented with imaging.
A 51-year-old woman had a 3-day history of severe left supraorbital pain associated with blurred vision of the left eye. Examination revealed visual acuity of 20/20 OD and 20/100 OS. A left relative afferent pupillary defect was present. Neuroimaging revealed a large intra-, supra-, and parasellar mass that had eroded through the sphenoid sinus into the(More)