Differentiating episodic ataxia type 2 from migraine: a case report

Wu, H S; Lau, WL; Chan, Tina Yc; Chen, Sammy Pl; Ko, CH

doi:10.12809/hkmj198306

Cited by 1 publication

(2 citation statements)

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“…EA2 is usually distinguished from other EAs by attack duration and interictal nystagmus. However, misdiagnosis as functional ataxia, anxiety, TIA, seizures or migraines has been reported before the correct genetic diagnosis was made [22,[55][56][57].…”

Section: Managementmentioning

confidence: 99%

“…vestibular migraine, migraine with brainstem aura, seizures, paroxysmal dyskinesias or benign paroxysmal positional vertigo). Patients with EA have been misdiagnosed with migraine, seizures, functional or anxiety disorders, resulting in premature diagnostic closure [22,55,57]. A personal or family history of epilepsy or migraine may have suggested these alternative more common diagnoses, rather than EA.…”

Section: Differential Diagnosis For Episodic Ataxiamentioning

confidence: 99%

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Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches

Hassan¹

2023

Tremor and Other Hyperkinetic Movements

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Background: Episodic ataxia (EA), characterized by recurrent attacks of cerebellar dysfunc tion, is the manifestation of a group of rare autosomal dominant inherited disorders. EA1 and EA2 are most frequently encountered, caused by mutations in KCNA1 and CACNA1A. EA3-8 are reported in rare families. Advances in genetic testing have broadened the KCNA1 and CACNA1A phenotypes, and detected EA as an unusual presentation of several other genetic disorders. Additionally, there are various secondary causes of EA and mimicking disorders. Together, these can pose diagnostic challenges for neurologists.Methods: A systematic literature review was performed in October 2022 for 'episodic ataxia' and 'paroxysmal ataxia', restricted to publications in the last 10 years to focus on recent clinical advances. Clinical, genetic, and treatment characteristics were summarized.Results: EA1 and EA2 phenotypes have further broadened. In particular, EA2 may be accom panied by other paroxysmal disorders of childhood with chronic neuropsychiatric features. New treatments for EA2 include dalfampridine and fampridine, in addition to 4aminopyridine and acetazolamide. There are recent proposals for EA9-10. EA may also be caused by gene mutations associated with chronic ataxias (SCA-14, SCA-27, SCA-42, AOA2, CAPOS), epilepsy syndromes (KCNA2, SCN2A, PRRT2), GLUT1, mitochondrial disorders (PDHA1, PDHX, ACO2), metabolic disorders (Maple syrup urine disease, Hartnup disease, type I citrullinemia, thiamine and biotin metabolism defects), and others. Secondary causes of EA are more commonly encountered than primary EA (vascular, inflammatory, toxicmetabolic). EA can be misdiagnosed as migraine, peripheral vestibular disorders, anxiety, and functional symptoms. Primary and secondary EA are frequently treatable which should prompt a search for the cause.Discussion: EA may be overlooked or misdiagnosed for a variety of reasons, including phenotypegenotype variability and clinical overlap between primary and secondary causes. EA is highly treatable, so it is important to consider in the differential diagnosis of paroxysmal disorders. Classical EA1 and EA2 phenotypes prompt single gene test and treatment pathways. For atypical phenotypes, next generation genetic testing can aid diagnosis and guide treatment. Updated classification systems for EA are discussed which may assist diagnosis and management.

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Section: Managementmentioning

confidence: 99%

Section: Differential Diagnosis For Episodic Ataxiamentioning

confidence: 99%