Familial episodic ataxia: a model for migrainous vertigo. 2009

Joanna C Jen, and Robert W Baloh
UCLA Neurology, Los Angeles, California, USA. jjen@ucla.edu

Familial episodic ataxias are inherited channelopathies that manifest as episodes of vertigo and ataxia triggered by emotional stress and physical exertion. Mutations in two neuronal ion-channel genes KCNA1 and CACNA1A abundantly expressed in the cerebellum account for the majority of the identified cases of episodic ataxia. Overlapping features between episodic ataxia and the more common recurrent vertigo and ataxia syndromes, particularly those associated with migraine, suggest shared underlying mechanisms. Altered neuronal excitability in the brain and inner ear could contribute to the central and peripheral features of migrainous vertigo. Given the familial aggregation of migraine and migrainous vertigo, our objective was to identify predisposing genetic factors. Preliminary findings demonstrate that migrainous vertigo is genetically heterogeneous and complex. Efforts are ongoing to perform genomewide association studies to identify risk alleles for migrainous vertigo, which may also be relevant to migraine in general.

UI MeSH Term Description Entries
D008881 Migraine Disorders A class of disabling primary headache disorders, characterized by recurrent unilateral pulsatile headaches. The two major subtypes are common migraine (without aura) and classic migraine (with aura or neurological symptoms). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1) Acute Confusional Migraine,Headache, Migraine,Status Migrainosus,Abdominal Migraine,Cervical Migraine Syndrome,Hemicrania Migraine,Migraine,Migraine Headache,Migraine Variant,Sick Headache,Abdominal Migraines,Acute Confusional Migraines,Cervical Migraine Syndromes,Disorder, Migraine,Disorders, Migraine,Headache, Sick,Headaches, Migraine,Headaches, Sick,Hemicrania Migraines,Migraine Disorder,Migraine Headaches,Migraine Syndrome, Cervical,Migraine Syndromes, Cervical,Migraine Variants,Migraine, Abdominal,Migraine, Acute Confusional,Migraine, Hemicrania,Migraines,Migraines, Abdominal,Migraines, Acute Confusional,Migraines, Hemicrania,Sick Headaches,Variant, Migraine,Variants, Migraine
D008954 Models, Biological Theoretical representations that simulate the behavior or activity of biological processes or diseases. For disease models in living animals, DISEASE MODELS, ANIMAL is available. Biological models include the use of mathematical equations, computers, and other electronic equipment. Biological Model,Biological Models,Model, Biological,Models, Biologic,Biologic Model,Biologic Models,Model, Biologic
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000483 Alleles Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product. Allelomorphs,Allele,Allelomorph
D001259 Ataxia Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or PERIPHERAL NERVE DISEASES. Motor ataxia may be associated with CEREBELLAR DISEASES; CEREBRAL CORTEX diseases; THALAMIC DISEASES; BASAL GANGLIA DISEASES; injury to the RED NUCLEUS; and other conditions. Coordination Impairment,Dyssynergia,Incoordination,Ataxia, Appendicular,Ataxia, Limb,Ataxia, Motor,Ataxia, Sensory,Ataxia, Truncal,Ataxy,Dyscoordination,Lack of Coordination,Tremor, Rubral,Appendicular Ataxia,Appendicular Ataxias,Ataxias,Ataxias, Appendicular,Ataxias, Limb,Ataxias, Motor,Ataxias, Sensory,Ataxias, Truncal,Coordination Impairments,Coordination Lack,Impairment, Coordination,Impairments, Coordination,Incoordinations,Limb Ataxia,Limb Ataxias,Motor Ataxia,Motor Ataxias,Rubral Tremor,Rubral Tremors,Sensory Ataxia,Sensory Ataxias,Tremors, Rubral,Truncal Ataxia,Truncal Ataxias
D014717 Vertigo An illusion of movement, either of the external world revolving around the individual or of the individual revolving in space. Vertigo may be associated with disorders of the inner ear (EAR, INNER); VESTIBULAR NERVE; BRAINSTEM; or CEREBRAL CORTEX. Lesions in the TEMPORAL LOBE and PARIETAL LOBE may be associated with FOCAL SEIZURES that may feature vertigo as an ictal manifestation. (From Adams et al., Principles of Neurology, 6th ed, pp300-1) CNS Origin Vertigo,Central Nervous System Origin Vertigo,Positional Vertigo,Spinning Sensation,Vertigo, Brain Stem,Vertigo, Brainstem,Vertigo, Central Nervous System Origin,Vertigo, Central Origin,Vertigo, Constant,Vertigo, Essential,Vertigo, Intermittant,Vertigo, Paroxysmal,Vertigo, Peripheral,Vertigo, Subjective,Brain Stem Vertigo,Brain Stem Vertigos,Brainstem Vertigo,Brainstem Vertigos,CNS Origin Vertigos,Central Origin Vertigo,Central Origin Vertigos,Constant Vertigo,Constant Vertigos,Essential Vertigo,Essential Vertigos,Intermittant Vertigo,Intermittant Vertigos,Origin Vertigo, CNS,Origin Vertigo, Central,Origin Vertigos, CNS,Origin Vertigos, Central,Paroxysmal Vertigo,Paroxysmal Vertigos,Peripheral Vertigo,Peripheral Vertigos,Sensation, Spinning,Sensations, Spinning,Spinning Sensations,Subjective Vertigo,Subjective Vertigos,Vertigo, CNS Origin,Vertigo, Positional,Vertigos,Vertigos, Brain Stem,Vertigos, Brainstem,Vertigos, CNS Origin,Vertigos, Central Origin,Vertigos, Constant,Vertigos, Essential,Vertigos, Intermittant,Vertigos, Paroxysmal,Vertigos, Peripheral,Vertigos, Subjective
D015220 Calcium Channels Voltage-dependent cell membrane glycoproteins selectively permeable to calcium ions. They are categorized as L-, T-, N-, P-, Q-, and R-types based on the activation and inactivation kinetics, ion specificity, and sensitivity to drugs and toxins. The L- and T-types are present throughout the cardiovascular and central nervous systems and the N-, P-, Q-, & R-types are located in neuronal tissue. Ion Channels, Calcium,Receptors, Calcium Channel Blocker,Voltage-Dependent Calcium Channel,Calcium Channel,Calcium Channel Antagonist Receptor,Calcium Channel Antagonist Receptors,Calcium Channel Blocker Receptor,Calcium Channel Blocker Receptors,Ion Channel, Calcium,Receptors, Calcium Channel Antagonist,VDCC,Voltage-Dependent Calcium Channels,Calcium Channel, Voltage-Dependent,Calcium Channels, Voltage-Dependent,Calcium Ion Channel,Calcium Ion Channels,Channel, Voltage-Dependent Calcium,Channels, Voltage-Dependent Calcium,Voltage Dependent Calcium Channel,Voltage Dependent Calcium Channels
D051662 Kv1.1 Potassium Channel A delayed rectifier subtype of shaker potassium channels that is commonly mutated in human episodic ATAXIA and MYOKYMIA. KCNA1 Potassium Channel,Kv1.1 Potassium Channel, Alpha Subunit,Kv1.1 Potassium Channel, Beta Subunit,Kv1.1alpha,Kv1.1beta,Potassium Channel, KCNA1,Potassium Channel, Kv1.1

Related Publications

Joanna C Jen, and Robert W Baloh
February 2004, Neurology,
Joanna C Jen, and Robert W Baloh
January 1997, Audiology & neuro-otology,
Joanna C Jen, and Robert W Baloh
February 2004, Cephalalgia : an international journal of headache,
Joanna C Jen, and Robert W Baloh
November 1985, Fortschritte der Neurologie-Psychiatrie,
Joanna C Jen, and Robert W Baloh
September 2009, The Annals of otology, rhinology, and laryngology,
Joanna C Jen, and Robert W Baloh
October 2004, Schmerz (Berlin, Germany),
Joanna C Jen, and Robert W Baloh
August 2005, Neurologic clinics,
Joanna C Jen, and Robert W Baloh
March 2013, New Zealand veterinary journal,
Joanna C Jen, and Robert W Baloh
October 2011, The Journal of the Association of Physicians of India,
Joanna C Jen, and Robert W Baloh
June 1980, Der Nervenarzt,
Copied contents to your clipboard!