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 (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

Clinical details are given of different types of episodic ataxia: type 1, with myokymia, and attacks which usually last a few minutes, and may occur several times a day, and treatment with acetazolamide can reduce the number of attacks; type 2, with interictal nystagmus, and attacks which last for several hours to a day or more, and treatment with acetazolamide is very effective; paroxysmal choreoathetosis with episodic ataxia, with attacks lasting for about 20 min and occurring at varying intervals; and familial hemiplegic migraine, with transient hemiplegia presenting during the aura of a migraine headache, the symptoms improving on treatment with acetazolamide. Their inheritance is of dominant type; and the gene for type 1 is mapped to chromosome 12p near to a cluster of potassium channel genes, and that for type 2 and for familial hemiplegic migraine to chromosome 19p near to calcium channel genes. The differential diagnosis from other conditions with a periodic symptomatology is discussed, especially from a number of metabolic disorders. Treatment is effective for many of these, and the treatment of the episodic ataxias with acetazolamide can sometimes have a dramatic effect. The possible role of the channelopathies in the causation of some periodic neurological disorders is considered; with the expectation that further research will improve the identification of specific diseases, and lead to more effective treatment.
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PMID:Episodic ataxia and channelopathies. 953 53

We report the case of a 33-year-old woman who developed a dense hemiplegia immediately after an uncomplicated general anaesthetic for diagnostic laparoscopy. She had a history of recurrent hemiplegic migraine with a strong family history. Her migraine was normally associated with visual disturbances and a unilateral headache followed by a left-sided weakness such that she was unable to walk. Symptoms would last up to 24 h. Her post-operative state was atypical of her normal migraine, in that she had no headache or visual disturbance and initially all four limbs were affected.
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PMID:Hemiplegia following general anaesthesia: an unusual presentation of migraine. 978 80

We report a reversible reduction of water diffusion in the brain during a prolonged attack of hemiplegic migraine. The patient had a sporadic mutation of the CACNA1A gene. The diffusion changes were observed in the contralateral hemisphere 3 and 5 weeks after the onset of hemiplegia. These results suggest the occurrence of hemispheric cytotoxic edema during severe attacks of hemiplegic aura. The mechanisms underlying such ultrastructural modifications are unknown but an abnormal release of excitatory amino acids can be hypothesized.
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PMID:Decreased hemispheric water mobility in hemiplegic migraine related to mutation of CACNA1A gene. 1066 28

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

We report a Japanese family carrying a T666M missense mutation of CACNA1A. Affected members demonstrated a strikingly wide clinical spectrum including migraine, hemiplegia, coma, and progressive cerebellar ataxia. Despite such variability of the clinical features, they demonstrated similar magnetic resonance imaging findings demonstrating cerebellar atrophy predominantly of the cerebellar vermis. These magnetic resonance images appeared not to correlate with clinical severity. Our findings should indicate that a T666M mutation of CACNA1A may be associated with more variable clinical features and that paroxysmal hemiplegic migraine attacks and progressive cerebellar atrophy should have distinct mechanisms of pathogenesis.
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PMID:Wide clinical variability in a family with a CACNA1A T666m mutation: hemiplegic migraine, coma, and progressive ataxia. 1181 35

The pathophysiology of the neurological deficits in hemiplegic migraine remains unclear. Both neurogenic and vascular etiologies have been proposed to explain this phenomenon. We present the case of a patient with hemiplegic migraine in whom there was no diffusion weighted magnetic resonance imaging evidence of cerebral ischemia, despite persistent left hemiplegia and diffuse vasospasm on cerebral angiography, there was no diffusion weighted magnetic resonance imaging evidence of cerebral ischemia. In addition, hypoperfusional changes were seen diffusely, more so on the less symptomatic hemisphere, whereas depression of cortical electrical activity was seen for several days on the right side. These findings support the notion that although both neurogenic and vascular changes occur in hemiplegic migraine, the former seems to be a more likely explanation for the neurological deficits.
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PMID:Prolonged cortical electrical depression and diffuse vasospasm without ischemia in a case of severe hemiplegic migraine during pregnancy. 1286 63

Alternating hemiplegia of childhood (AHC) is a rare disorder mainly characterised by attacks of hemiplegia and mental retardation. AHC has often been associated with migraine. Previously, we have excluded the involvement of the familial hemiplegic migraine (FHM) CACNA1A gene in four patients with AHC. A second gene for FHM was discovered recently: the ATP1A2 gene on chromosome 1q23, coding for the alpha 2 subunit of Na+,K+-ATPase. We performed a mutation analysis of the ATP1A2 gene in six patients, using direct sequencing, but found no mutations in any of the 23 exons. Other cerebral ion channel genes remain candidate genes for AHC.
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PMID:Alternating hemiplegia of childhood: no mutations in the second familial hemiplegic migraine gene ATP1A2. 1553 63

The authors report a patient with familial hemiplegic migraine type II who developed a long-lasting attack including fever, right-sided hemiplegia, aphasia, and coma. Quantitative analysis of early gadolinium-enhanced MRI revealed a mild but significant left-hemispheric blood-brain barrier (BBB) opening limited to the cortex and preceding cortical edema. The findings suggest that the delayed cortical edema was vasogenic in the severe migraine aura variant of this ATP1A2 mutation carrier.
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PMID:Opening of the blood-brain barrier preceding cortical edema in a severe attack of FHM type II. 1598 92


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