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)

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

Familial hemiplegic migraine (FHM) is a rare subtype of migraine with aura and transient hemiplegia. FHM mutations are known in three genes, the CACNA1A (FHM1) gene, the ATP1A2 (FHM2) and the SCN1A (FHM3) gene and seem to have an autosomal-dominant mode of inheritance. The aim of this study was to search for FHM mutations in FHM families identified through a screen of the Danish population of 5.2 million people. FHM patients were diagnosed according to the International Classification of Headache Disorders and all FHM patients had a physical and neurological examination by a physician. A total of 147 FHM patients from 44 different families were identified; 43 FHM families participated in this study. Linkage analysis of these families shows clear linkage to the FHM locus (FHM1) on chromosome 19, supportive linkage to the FHM2 locus whereas no linkage was found to the FHM3 locus. Furthermore, we sequenced all exons and promoter regions of the CACNA1A and ATP1A2 genes and screened for the Q1489K mutation in the SCN1A gene. CACNA1A gene mutations were identified in three of the FHM families, two known FHM mutations, R583Q and T666M and one novel C1369Y mutation. Three FHM families were identified with novel mutations in the ATP1A2 gene; a family with a V138A mutation, a family with a R202Q mutation and a family with a R763C mutation. None of the Danish FHM families have the Q1489K mutation in the SCN1A gene. Our study shows that only 14% (6/42) of FHM families in the general Danish population have exonic FHM mutations in the CACNA1A or ATP1A2 gene. The families we identified with FHM mutations in the CACNA1A and ATP1A2 genes were extended, multiple affected families whereas the remaining FHM families were smaller. The existence of many small families in the Danish FHM cohort may reflect less bias in FHM family ascertainment and/or more locus heterogeneity than described previously.
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PMID:The genetic spectrum of a population-based sample of familial hemiplegic migraine. 1723 23

Alternating hemiplegia of childhood (AHC) is a severe brain disorder, mainly characterised by episodes of hemiplegia, progressive mental retardation, and other severe paroxysmal and permanent neurological symptoms. Clinically and genetically, there is some overlap with sporadic (SHM) and familial (FHM) hemiplegic migraine, a severe monogenic subtype of migraine. Although no mutations were detected in the FHM1 CACNA1A and FHM2 ATP1A2 genes in sporadic AHC patients, a mutation was found in the FHM2 ATP1A2 gene in a family with AHC. Recently, a missense mutation was found in the SLC1A3 gene that encodes the glutamate transporter EAAT1, in a patient with alternating hemiplegia, episodic ataxia, seizures, and headache. Because of the remarkable clinical similarities and the potential role of glutamate in AHC, we analysed six sporadic patients with AHC for mutations in the SLC1A3 gene. No mutations were found. The SLC1A3 EAAT1 glutamate transporter gene does not seem to be involved in the pathogenesis of AHC.
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PMID:Alternating hemiplegia of childhood: no mutations in the glutamate transporter EAAT1. 1723 10

Hemiplegic migraine (HM) is a rare variety of migraine with aura characterized by the presence of a motor weakness during the aura. Hemiplegic migraine has two main forms according to the familial history: patients with at least one first- or second-degree relative who has aura including motor weakness have familial hemiplegic migraine (FHM); patients without such familial history have sporadic hemiplegic migraine (SHM). The prevalence of HM is one in 10,000 with FHM and SHM being equally frequent. Typical HM attacks include a motor weakness that is always associated with other aura symptoms, the most frequent being sensory, visual and speech disorders. In addition, basilar-type symptoms occur in up to 70% of the patients. Severe attacks may occur in FHM as well as in SHM with prolonged hemiplegia, confusion, coma, fever and seizures. The clinical spectrum also includes permanent cerebellar signs (nystagmus, ataxia, dysarthria) and less frequently various types of seizures and intellectual deficiency. FHM is the only variety of the autosomal dominant migraine and all three know genes encode ion-transporters. A genetic diagnosis is now possible by screening the three known genes involved in FHM (CACNA1A, ATP1A2 and SCNA1). Prognosis is usually good. Treatment is similar to approaches used in other varieties of migraine with aura, excepted for triptans that are contraindicated in MHF/MHS. Based on new pathophysiological insight, preventive treatments by various antiepileptic agents seem promising.
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PMID:[Familial and sporadic hemiplegic migraine]. 1840 71

We present a Norwegian family with familial hemiplegic migraine (FHM) with possibly four affected in three generations. The family had a point mutation in the ATP1A2 gene that caused a change of the amino acid valine to methionine (V628 M). The symptoms were pure FHM with intra- and interindividual variability, and epilepsy is not part of the clinical picture. Attacks could be provoked by physical activity. The proband had prolonged attacks of FHM, and was hospitalized due to such an attack provoked by a minor head trauma. The initial management was conservative, but due to persistence of the hemiplegia on day 9, a continuous nimodipine infusion was initiated in order to prevent cerebrovascular vasospasm. However, the nimodipine infusion worsened the patient's symptoms and possibly provoked a generalized tonic-clonic seizure due to vasodilatation and reduced cerebral blood flow. The MRI showed cortical edema and the SPECT showed reduced perfusion on the contralateral side of the hemiplegia. We conclude that nimodipine is contraindicated in the management of prolonged FHM attacks, and recommend conservative management and supplement of sufficient intravenous fluid in nauseated patients in order to avoid hypovolemia.
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PMID:Intravenous nimodipine worsening prolonged attack of familial hemiplegic migraine. 1884 13

Familial hemiplegic migraine (FHM) is a rare subtype of migraine with aura and transient hemiplegia. CACNA1A (FHM1) gene, the ATP1A2 (FHM2) and the SCN1A (FHM3) are reported for their correlation to FHM. Here, a bioinformatics analysis was done to study the risk positions for mutation within the amino acid sequence of the three mentioned molecules. In this work, the author can identify many mutant prone positions within the studied FHM. Of interest, the author detected that FHM3 is a high resistant molecule when compared to FHM1 and FHM2.
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PMID:FHM3 in familial hemiplegic migraine is more resistant to mutation than FHM1 and FHM2. 1900 41

We report a SPECT and PET voxel-based analysis of cerebral blood flow and metabolic rate for glucose in a 23-year-old woman with familial hemiplegic migraine (FHM) caused by ATP1A2 gene mutation. In comparison with healthy subjects, a PET scan showed brain glucose hypometabolism, controlaterally to the hemiplegia, in the perisylvian area early in the attack (Day 1), without any SPECT perfusion abnormalities. Decrease in metabolic rate was only partially reversible at Day 78, concordant at this time with a remaining hemisensory loss. These findings provide further evidence for a primary cortical metabolic dysfunction in FHM.
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PMID:Partially reversible cortical metabolic dysfunction in familial hemiplegic migraine with prolonged aura. 2023 46

Hemiplegic migraine is a rare form of migraine characterized by periodic attacks of migraine with neurologic aura and transient hemiplegia. There are familial and sporadic cases, both on a genetic basis; we describe the case of a 6-year-old boy affected by sporadic hemiplegic migraine, showing a novel ATP1A2 gene missense mutation (p.Gly715Arg) in exon 16. Long-term treatment with flunarizine resulted in good clinical response and prevention of further attacks.
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PMID:Prolonged sporadic hemiplegic migraine associated with a novel de novo missense ATP1A2 gene mutation. 2135 19

The clinical spectrum associated with ATP1A2 mutations is expanding and includes familial hemiplegic migraine, alternating hemiplegia of childhood, and epilepsy. We have identified a novel c.1766T>C. (Ile589Thr) heterozygous mutation in the ATP1A2 gene in a Saudi kindred with hemiplegic attacks and seizures. Our findings broaden the phenotypic spectrum of patients with ATP1A2 mutations.
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PMID:A wide clinical phenotype spectrum in patients with ATP1A2 mutations. 2409 48


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