Background: Migraine is a common disabling condition that affects approximately 15% of the population. Several genome-wide association studies have attempted to identify susceptibility variants involved in migraine, reporting several candidate loci for the disorder.
Methods: In order to replicate findings from previous genome-wide association studies, a case-control association study was performed.
Background: Mutations causing Leber hereditary optic neuropathy are usually homoplasmic, show incomplete penetrance, and many of the affected positions are not well conserved through evolution. A large percentage of patients harbouring these mutations have no family history of disease. Moreover, the transfer of the mutation in the cybrid model is frequently not accompanied by the transfer of the cellular, biochemical and molecular phenotype.
View Article and Find Full Text PDFBackground: Migraine is a prevalent neurological disorder with a complex genetic background characterized by recurrent episodes of headache. The disease is subclassified into migraine with aura (MA) and migraine without aura (MO). Many association studies have been performed to date to identify genetic risk variants for common migraine, most of them focusing on selected candidate genes, with variable and often inconsistent results.
View Article and Find Full Text PDFAm J Med Genet B Neuropsychiatr Genet
January 2010
In order to evaluate the contribution of 19 serotonin-related genes to the susceptibility to migraine in a Spanish population we performed a case-control association study of 122 single nucleotide polymorphisms (SNPs), selected according to genetic coverage parameters, in 528 migraine patients -308 with migraine without aura (MO) and 220 with migraine with aura (MA)- and 528 sex-matched migraine-free controls. The single-marker analysis identified nominal associations with the migraine phenotype or with the MO or MA subtypes. The multiple-marker analysis revealed risk haplotypes in three genes that remained significantly associated with migraine after correction by permutations.
View Article and Find Full Text PDFMigraine is a common neurological disorder with a complex inheritance pattern. Mutations in genes encoding proteins that are involved in ion transport across the neuronal membrane have been linked to rare monogenic variants of migraine. These or other related genes and proteins are also candidates to be involved in the inherited predisposition to the more common forms of migraine without aura (MO) or migraine with aura (MA).
View Article and Find Full Text PDFIntroduction: Hyperkalemic periodic paralysis (HYPP) is an autosomal dominant disease characterized by recurrent episodes of muscular weakness with increased blood potassium levels. Here we present the clinical, analytical, neurophysiological and genetic findings of family with eight affected individuals, five of which were available for study.
Patients And Methods: The five patients were subjected to complete anamnesis, neurological examination, routine blood analysis and genetic study.
Spinal epidural hematoma (SEH) is a low incidence injury. When the cause of bleeding is unknown, which occurs in 50% of the cases, we refer to it as spontaneous SEH. The clinical presentation is characterized by acute radicular pain followed by cord compression syndrome.
View Article and Find Full Text PDFFocal hand dystonia in musicians is a strongly task-related movement disorder. Typically, symptoms become apparent only when players execute specific overpracticed skilled exercises on their instrument. We therefore examined five guitarists with functional MRI during dystonic symptom provocation by means of an adapted guitar inside the magnet.
View Article and Find Full Text PDFIntroduction: Pure alexia is a syndrome characterized by the inability to read aloud in the absence of agraphia or apnasia.
Clinical Cases: Three clinical cases showing this syndrome are presented. Case I had a left occipital lesion compatible with a subacute haematoma.
We describe a 48-year-old woman with an intracranial tumor located in the meninges. Radiologic images were consistent with meningioma. Pathology showed that it was well differentiated and diffuse lymphocytic lymphoma.
View Article and Find Full Text PDFNeuropathol Appl Neurobiol
June 1995
Hereditary, probably autosomal recessive, spastic paraparesis in two siblings was associated with dementia of frontal lobe type, amyotrophy and peripheral sensory and motor polyneuropathy. Neuropathological findings correlate with neurological deficits, although neuron loss in the caudate and putamen, substantia nigra, and loss of Purkinje cells were clinically silent. Loss of neurons occurred in all cortical layers of the prefrontal lobe and superior temporal gyrus.
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