Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0042571 (vertigo)
 7,148 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We studied a group of young migraine with aura patients with whom it was possible to reconstruct the course and the characteristics of the disturbances preceding or accompanying the onset of the headache. The 47 subjects, 31 female and 16 male, were diagnosed (IHS classification) as Migraine with typical aura (n = 40), Familial hemiplegic migraine (n = 1), Basilar migraine (n = 6), and Migraine with prolonged aura (n = 5). Visual (43 cases) and sensory disturbances (20 cases) were the most commonly described symptoms; a motor deficit was reported in 10 out of 47 cases. Other disturbances such as vertigo attacks, aphasia, spatial disorientation, loss of consciousness or a decreased level of consciousness with the appearance of automatic movements, were much rarer. In our cases the visual disturbances were not isolated but were accompanied by other symptoms in 29 cases, and in 5 of the 18 cases in which there were only visual symptoms, the disturbances presented in succession; a "march" of the sensory and motor disturbance was found in 66% and 68% of cases, respectively. The data from our cases in which the disturbance seems most frequently to originate in the occipital areas (visual disorders) and then to spread to the temporo-parietal regions in part confirms that there is a posterior to anterior dynamic in the cerebral areas involved.
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PMID:A prospective study of juvenile migraine with aura. 802 45

Familial hemiplegic migraine type 1, spinocerebellar ataxia type 6 (SCA6) and episodic ataxia type 2 (EA2) are allelic disorders associated with mutations in the CACNA1A gene, which encodes the alpha1 subunit of the P/Q-type calcium channel (Ca(V)2.1). SCA6 and EA2 share a number of clinical features, such as prominent cerebellar involvement and good response to acetazolamide therapy. However, while SCA6 develops as a late-onset, progressive ataxia, EA2 has an earlier, and episodic, onset. We report on two sisters with a heterogeneous clinical phenotype. The first developed progressive cerebellar ataxia after age 30, without noticeable episodes of vertigo or headache. A 1 year trial with acetazolamide did not produce significant results. The other reported episodes of vertigo, headache and gait imbalance since late childhood, with good response to acetazolamide, before developing moderate chronic cerebellar ataxia. Brain MRI showed cerebellar atrophy, especially in the vermis, in both patients. Direct sequencing of CACNA1A identified a heterozygous 1360G>A mutation in exon 11 resulting in the substitution of alanine for threonine at residue 454 (p.Ala454Thr). This is the first description of a change residing in the cytoplasmic I-II loop associated with a clinical phenotype.
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PMID:Early-onset progressive ataxia associated with the first CACNA1A mutation identified within the I-II loop. 1758 11

Familial hemiplegic migraine (FHM) is a rare type of migraine with aura. Mutations in three genes have been described in FHM patients: CACNA1A (FHM1), ATP1A2 (FHM2) and SCN1A (FHM3). We screened 27 Spanish patients with hemiplegic migraine (HM), basilar-type migraine or childhood periodic syndromes (CPS) for mutations in these three genes. Two novel CACNA1A variants, p.Val581Met and p.Tyr1245Cys, and a previously annotated change, p.Cys1534Ser, were identified in individuals with HM, although they have not yet been proven to be pathogenic. Interestingly, p.Tyr1245Cys was detected in a patient displaying a changing, age-specific phenotype that began as benign paroxysmal torticollis of infancy, evolving into benign paroxysmal vertigo of childhood and later becoming HM. This is the first instance of a specific non-synonymous base change being described in a subject affected with CPS. The fact that the molecular screen identified non-synonymous changes in < 15% of our HM patients further stresses the genetic heterogeneity underlying the presumably monogenic forms of migraine.
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PMID:Genetic analysis of 27 Spanish patients with hemiplegic migraine, basilar-type migraine and childhood periodic syndromes. 1864 40