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Epidemiology and impact of headache disorders
Published in Stephen D. Silberstein, Richard B. Upton, Peter J. Goadsby, Headache in Clinical Practice, 2018
Stephen D. Silberstein, Richard B. Upton, Peter J. Goadsby
The relationship between this chromosome 19 linkage marker/gene product and more common types of migraine is not clear,104,105 Several studies report involvement of the CACNAIA gene in the usual forms of both migraine with and without aura90,92 although results vary. Mutations of the CACNAIA gene have also been associated with episodic ataxia type 2 and spinocerebellar ataxia type 690–92 The heterogeneity of FHM underscores the likely heterogeneity of the more common types of migraine. The implications of these genetic findings for the mechanisms of migraine have been discussed elsewhere90–92 and are considered in Chapter 5.
Coincidental occurance of episodic ataxia and multiple sclerosis: a case report and review of the literature
Published in International Journal of Neuroscience, 2022
Melike Batum, Ayşın Kısabay Ak, Güldeniz Çetin, Hamide Betül Gerik Çelebi, Sırrı Çam, Hatice Mavioğlu
Episodic ataxia is a clinical condition characterized by episodes of balance and impairment that last minutes to hours. It can be inherited or occur sporadically. It can also be seen sporadically in epilepsy, basilar migraine, multiple sclerosis, vertebrobasilar ischaemia, and labyrinth diseases. Apart from these. Symptoms of paroxysmal dysarthria-ataxia (secondary PDA) may also be present. Attacks of paroxysmal ataxia of primary type have been associated with genetic etiologies (EA 1-7) [1]. Hereditary episodic ataxias, spinocerebellar ataxia type 6, some mitochondrial disorders (such as pyruvate decarboxylase deficiency and pyruvate dehydrogenase deficiency), aminoaciduria (such as Hartnup disease, ketoaciduria, and isovaleric acidaemia), and hyperammonaemia due to urea cycle enzyme deficiency can also lead to episodic ataxia [1].
Frequency analyses of posturography using logarithmic translation
Published in Acta Oto-Laryngologica, 2020
Hiroki Watanabe, Ayane Makabe, Chiaki Hirai, Takamori Takeda, Keiji Honda, Shinichi Demura, Takeshi Tsutsumi
The study cohort included a total of 219 participants: 172 healthy subjects with no hearing or vestibular disorders (81 males and 91 females; average age, 51.3 ± 22.9 years) and 47 patients with SCD (25 males and 22 females; average age, 60.0 ± 13.6 years, consisted of 3 cortical cerebellar atrophy, 10 multiple system atrophy cerebellar variant, 4 multiple system atrophy Parkinsonian variant, 1 Shy-Drager syndrome, 6 other multiple system atrophy, 1 episodic ataxia type 2, 4 spinocerebellar ataxia type 3, 4 spinocerebellar ataxia type 31, 5 spinocerebellar ataxia type 6, 6 other spinocerebellar ataxia, and 3 unknown SCD). The age distributions of the healthy subjects were as follows: 18 teenagers (eight males and 10 females; average age, 15.5 ± 0.9 years), 23 young adults aged 20–29 years (15 males and eight females, 24.0 ± 2.5 years), 22 adults aged 30–39 years (13 males and nine females; average age, 34.1 ± 2.7 years), 16 adults aged 40–49 years (five males and 11 females; average age, 45.2 ± 2.6 years), 16 adults aged 50–59 years (six males and 10 females; average age, 54.0 ± 2.2 years), 28 older adults aged 60–69 years (14 males and 14 females; average age, 65.3 ± 2.6 years), 28 elderly adults aged 70–79 years (13 males and 15 females; average age, 74.5 ± 2.2 years), and 21 elderly adults aged 80–89 years (seven males and 14 females; average age, 82.9 ± 2.6 years).
Episodic ataxia type 2 characterised by recurrent dizziness/vertigo: a report of four cases
Published in International Journal of Neuroscience, 2019
Xia Ling, Dan-hua Zhao, Jing Zhao, Bo Shen, Xu Yang
The pathogenic gene for EA2 is CACNA1A, localized on 19p13, and encodes the α1A subunit of type P/Q voltage-gated calcium channels. Mutation in this gene can also result in familial hemiplegic migraine type 1 (FHM1) and spinocerebellar ataxia type 6 (SCA6); different clinical phenotypes may be associated with different mutations [2,3]. In China, the vast majority of CACNA1A mutations are associated with FHM1 and SCA6, whereas association with EA2 is rare [4]. Therefore, we report here the genotypes and clinical phenotypes of one EA2 family and one sporadic patient with recurrent dizziness/vertigo without obvious episodic ataxia.