Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018991 (hemiplegia)
 3,997 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Familial hemiplegic migraine and its associated signs and symptoms have previously been well described. The condition demonstrates autosomal dominant inheritance and has been recently assigned to a locus on chromosome 19. Previous reports of familial hemiplegic migraine have indicated that expression always occurs early in life. We describe a patient who presented with multiple episodes of reversible hemiplegia followed by headache at the age of 75. Seven other family members were found to have been affected in a similar manner. We believe this case represents a unique description of familial hemiplegic migraine presenting in later life.
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PMID:Adult onset familial hemiplegic migraine. 767 61

Familial hemiplegic migraine is an autosomal dominant disorder of unknown pathogenesis in which the migrainous attacks are marked by the occurrence of a transient hemiplegia during the aura. The aim of our study was the identification of the affected gene. The first step was the chromosomal mapping of the affected gene, for which we used a "candidate gene" strategy. The first candidate gene was the gene responsible for CADASIL. While investigating CADASIL, mapped previously to chromosome 19, we observed that some patients had recurrent attacks of migraine with aura. Although the clinical and neuroimaging features of familial hemiplegic migraine differ markedly from CADASIL, we hypothesized that the same gene could be involved in the pathogenesis of both conditions. We chose two large pedigrees for linkage analysis of familial hemiplegic migraine. A maximum lodsore > 8 was found with two markers that are strongly linked to CADASIL. Multilocus linkage analysis located the affected gene within an interval of about 30 cM on chromosome 19, containing the gene responsible for CADASIL. At this step it's not possible to conclude that CADASIL and familial hemiplegic migraine are due to the same mutated gene. It will be necessary to analyse other familial hemiplegic migraine and CADASIL families in order to reduce the size of their respective interval and ultimately identify the mutated gene(s).
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PMID:[Familial hemiplegic migraine. Localization of a responsible gene on chromosome 19]. 787 19

By analogy with ophthalmic migraine, hemiplegic migraine is defined by the occurrence during the attacks of unilateral weakness. This simple definition is however far from reflecting the wide range of clinical situations reported under this term. Familial hemiplegic migraine (FHM) is a well individualized autosomal dominant condition. Attacks start in childhood, adolescence, or early adulthood. They invariably include a unilateral weakness lasting 30 to 60 minutes and almost always associated with visual, sensory, or speech disturbances. They are occasionally very severe with a dense hemiplegia, confusion, coma or fever, but they always completely recover. Brain neuroimaging is normal. In 20% of the families, migraine is associated with permanent neurological signs, mainly nystagmus and cerebellar ataxia. FHM is a genetically heterogeneous condition, with half of the families linked to chromosome 19 and the other half in which this link is excluded. By contrast to FHM, which is a well defined entity, other varieties of so called hemiplegic migraine do not deserve to be individualized as such. They include attacks of migraine with typical aura when a unilateral weakness is part of the aura, severe hemiplegic attacks similar to those reported in FHM but sporadic, migrainous infarcts with hemiplegia, and, for some authors, alternating hemiplegia of childhood. The pathogenesis of all these conditions and of migraine itself remaining largely unknown, it is currently impossible to know whether or not they share common pathophysiologic mechanisms. The identification of the gene on chromosome 19 and the discovery of other genes will be major steps to elucidate this question.
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PMID:[Hemiplegic migraine]. 789 22

Familial hemiplegic migraine is an autosomal dominant disorder of unknown pathogenesis in which the migrainous attacks are marked by the occurrence of a transient hemiplegia during the aura. While investigating CADASIL, mapped previously to chromosome 19, we observed that some patients had recurrent attacks of migraine with aura. Although the clinical and neuroimaging features of familial hemiplegic migraine differ markedly from CADASIL, we hypothesized that the same gene could be involved in the pathogenesis of both conditions. We chose two large pedigrees for linkage analysis of familial hemiplegic migraine. A maximum lod score > 8 was found with two markers that are also strongly linked to CADASIL. Multilocus linkage analysis suggested that the loci responsible for the two diseases reside within an interval of about 30 cM on chromosome 19.
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PMID:A gene for familial hemiplegic migraine maps to chromosome 19. 822 Apr 21

Familial hemiplegic migraine (FHM) is an autosomal dominant disorder characterized by transient hemiplegia during the aura phase of a migraine attack. Nystagmus has been reported in individuals affected with this disorder, but the origin of the ocular motility findings is unknown. A three-generation family with FHM is described and clinical histories are outlined. Ocular motility evaluations were performed on 7 family members, 5 with a history of hemiplegic migraine and 2 without history of migraine. All affected family members had abnormal eye movements consistent with vestibulocerebellar dysfunction. Magnetic resonance imaging scans in affected family members revealed cerebellar vermian atrophy. DNA linkage analysis revealed a common marker in all the affected family members on chromosome 19. We suggest that the hemiplegic migraine attacks and the cerebellar degeneration are linked genetically and that the eye movements are not the ischemic sequelae of recurrent migraine. Strikingly similar ocular motility findings and cerebellar degeneration are reported in both FHM and a genetically related disorder, hereditary paroxysmal cerebellar ataxia (HPCA). The significance of these similarities is discussed along with a proposed pathophysiology for FHM.
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PMID:Familial hemiplegic migraine, nystagmus, and cerebellar atrophy. 857 54

Familial hemiplegic migraine is a distinctive form of migraine with autosomal dominant inheritance. The patients undergo attacks of migraine complicated by hemiplegia. Seizures have not been reported as comprising a part of this syndrome. We describe three generations of a family with hemiplegic migraine and focal seizures occurring concurrently with the migrainous attacks. There were five affected family members whose clinical features included unilateral headache and transient hemiplegia. Two family members also had focal seizures during the migrainous attacks. One of the patients was treated with carbamazepine with good results. The only associated neurological finding was ataxia which was found in the oldest patient. The presence of focal seizures during an episode of hemiplegic migraine suggests that the two phenomena of migraine and focal seizures may share the same underlying pathophysiology.
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PMID:A family with hemiplegic migraine and focal seizures. 1072 90

Familial hemiplegic migraine is a rare autosomal, dominant, migraine subtype. It is characterized by acute episodes of hemiplegia and hemisensory deficits, and other neurological abnormalities occurring either before or together with severe headache, nausea and vomiting; episodes last several hours and then spontaneously subside. Intervals between episodes are relatively prolonged. Unless there is a relevant family history suggesting this syndrome, the diagnosis is usually delayed. Recently the gene for the syndrome was identified on chromosome 19. We report 3 boys and 1 girl, 11-15 years old with hemiplegic migraine.
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PMID:[Familial hemiplegic migraine of childhood]. 1095 93

Familial hemiplegic migraine is caused by CACNA1A missense mutations in 50% of families, including all families with cerebellar ataxia. A patient with healthy parents, who experienced prolonged attacks of migraine with hemiplegia, coma, and seizures, is reported. The patient also had mental retardation, permanent cerebellar ataxia with cerebellar atrophy, and right-sided brain atrophy. This patient carried a de novo Tyr 1385 Cys mutation in the CACNA1A gene and illustrates a novel phenotype associated with CACNA1A mutations.
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PMID:CACNA1A gene de novo mutation causing hemiplegic migraine, coma, and cerebellar atrophy. 1106 Dec 67

Familial hemiplegic migraine (FHM) is a rare inherited autosomal dominant disorder. Migraine aura may last up to several weeks and then resolve without sequel. We report a 21-year-old male with FHM since the age of 3 years. Diffusion-weighted magnetic resonance imaging (DWI), perfusion-MR imaging (P-MRI) and [99mTc] hexamethyl-propyleneamine-oxime-single photon emission tomography (HMPAO-SPECT) were performed on day 2, when he was somnolent with right-sided hemiplegia, on day 9 when a mild hemiparesis was still present and on day 24 after recovery. The right central region showed normal findings in DWI, whereas P-MRI and SPECT revealed hyperperfusion on day 2, less marked on day 9, and normal findings on day 24. In conclusion, this case report indicates for the first time, by means of SPECT, P-MRI and DWI studies, that even extremely long-lasting migraine aura is not associated with cerebral ischaemia. Therefore, it supports the revised International Headache Society criteria where the term 'persistent' aura is proposed.
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PMID:Familial hemiplegic migraine: follow-up findings of diffusion-weighted magnetic resonance imaging (MRI), perfusion-MRI and [99mTc] HMPAO-SPECT in a patient with prolonged hemiplegic aura. 1519 95

Familial hemiplegic migraine (FHM) is an autosomal dominant disorder characterized by transient hemiplegia followed by migraine headache, and recently approximately half of FHM families have been elucidated to be caused by mis-sense mutations in P/Q-type Ca channel alpha(1)-subunit gene (CACNA1A). This subunit forms channel pore and is implicated in the regulation of membrane excitability as voltage sensor, therefore FHM is thought to be channelopathy. The CACNA1A gene is causative of episodic ataxia type-2 and of spinocerebellar atrophy type 6. Moreover, FHM with cerebellar ataxia is only associated with the mutation in CACNA1A, dysfunction of the calcium channel may cause cerebellar degeneration. New genotype and phenotype have been reported, more reports and analyses are expected.
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PMID:[Familial hemiplegic migraine]. 1577 64


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