Familial benign recurrent vertigo

Oh, Andrew K.; Lee, Hyung; Jen, Joanna C.; Corona, Sonia; Jacobson, Kathleen M.; Baloh, Robert W.

doi:10.1002/ajmg.1294

Cited by 111 publications

(73 citation statements)

References 20 publications

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“…Familial occurrence is not uncommon, probably based on an autosomal dominant pattern of inheritance with decreased penetrance in men [ 47 ]. In most patients, migraine headaches begin earlier in life than VM [ 18,41 ].…”

Section: Epidemiology and Demographic Features Of Vestibular Migrainementioning

confidence: 99%

Epidemiology of vertigo, migraine and vestibular migraine

2009

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Both migraine and vertigo are common in the general population with lifetime prevalences of about 16% for migraine and 7% for vertigo. Therefore, a concurrence of the two conditions can be expected in about 1.1% percent of the general population by chance alone. However, recent epidemiological evidence suggests that the actual comorbidity is higher, namely 3.2 %. This can be explained by the fact that several dizziness and vertigo syndromes occur more frequently in migraineurs than in controls including benign paroxysmal positional vertigo, Meniere's disease, motion sickness, cerebellar disorders and anxiety syndromes which may present with dizziness. In addition, there is increasing recognition of a syndrome called vestibular migraine (VM), which is vertigo directly caused by migraine. VM affects more than 1% of the general population, about 10% of patients in dizziness clinics and at least 9% of patients in migraine clinics.Clinically, VM presents with attacks of spontaneous or positional vertigo lasting seconds to days. Migrainous accompaniments such as headache, phonophobia, photophobia or auras are common but not mandatory. Cochlear symptoms may be associated but are mostly mild and non-progressive. During acute attacks one may find central spontaneous or positional nystagmus and, less commonly, unilateral vestibular hypofunction. In the symptom-free interval, vestibular testing adds little to the diagnosis as findings are mostly minor and non-specific. In the absence of controlled studies, treatment of VM is adopted from the migraine sphere comprising avoidance of triggers, stress management as well as pharmacotherapy for acute attacks and prophylaxis.

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Section: Epidemiology and Demographic Features Of Vestibular Migrainementioning

confidence: 99%

Epidemiology of vertigo, migraine and vestibular migraine

2009

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“…It should be noted that headaches do not occur in up to 30% of patients with vestibular migraine. [15][16][17] Between spells, more than 90% of patients exhibit central ocular motor disturbances such as gaze-holding deficits, saccadic smooth pursuit, impaired visual suppression of the vestibulo-ocular reflex, especially downbeat nystagmus, 18 or rarely bilateral internuclear ophthalmoplegia. 19 Some of these patients develop subtle and slowly progressive limb ataxia and postural imbalance later in life.…”

Section: Clinical Features Of Episodic Ataxia Typementioning

confidence: 99%

Episodic Ataxia Type 2

Strupp¹,

Zwergal²,

Brandt³

2007

Neurotherapeutics

162

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Summary: Episodic ataxia type 2 (EA 2) is a rare neurological disorder of autosomal dominant inheritance resulting from dysfunction of a voltage-gated calcium channel. It manifests with recurrent disabling attacks of imbalance, vertigo, and ataxia, and can be provoked by physical exertion or emotional stress. In the spell-free interval, patients present with central ocular motor dysfunction, mainly downbeat nystagmus. A slow progression of cerebellar signs accompanied by a slight atrophy of midline cerebellar structures is commonly observed during the course of the disease. EA 2 is caused most often by the loss of function mutations of the calcium channel gene CACNA1A, which encodes the Ca V 2.1 subunit of the P/Q-type calcium channel and is primarily expressed in Purkinje cells. To date, more than 30 mutations have been described. Two effective treatment options have been established for EA 2: acetazolamide (ACTZ), which probably changes the intracellular pH and thereby the transmembraneous potential, and 4-aminopyridine (4-AP), a potassium channel blocker. Approximately 70% of all patients respond to treatment with ACTZ, but the effect is often only transient. In an open trial, 4-AP prevented attacks in five of six patients with EA 2, most likely by increasing the resting activity and excitability of the Purkinje cells. These findings were confirmed by experiments in animal models of EA 2. Many aspects of the pathophysiology (e.g., induction of the attacks) and treatment of EA 2 (e.g., mode of action of ACTZ and 4-AP) still remain unclear and need to be addressed in further animal and clinical studies.

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“…5-8 Familial occurrence is not uncommon, probably based on an autosomal dominant pattern of inheritance with decreased penetrance in men. 26 In most patients, migraine begins earlier in life than vestibular migraine.…”

Section: Clinical Features Demographic Aspectsmentioning

confidence: 99%

“…26 A linkage analysis in a four-generation family with 10 affected individuals mapped the locus for vestibular migraine to chromosome 5q35. 46 In a larger study, familial vestibular migraine was found to be genetically heterogenous with a subgroup linking to chromosome 22q12.…”

Section: Pathophysiologymentioning

confidence: 99%