[HTML][HTML] Episodic ataxias: Primary and secondary etiologies, treatment, and classification approaches

A Hassan - Tremor and Other Hyperkinetic Movements, 2023 - ncbi.nlm.nih.gov
Background: Episodic ataxia (EA), characterized by recurrent attacks of cerebellar
dysfunction, is the manifestation of a group of rare autosomal dominant inherited disorders …

Acute cerebellar inflammation and related ataxia: mechanisms and pathophysiology

MSA Parvez, G Ohtsuki - Brain sciences, 2022 - mdpi.com
The cerebellum governs motor coordination and motor learning. Infection with external
microorganisms, such as viruses, bacteria, and fungi, induces the release and production of …

The complexities of CACNA1A in clinical neurogenetics

MP Hommersom, TH van Prooije, M Pennings… - Journal of …, 2022 - Springer
Variants in CACNA1A are classically related to episodic ataxia type 2, familial hemiplegic
migraine type 1, and spinocerebellar ataxia type 6. Over the years, CACNA1A has been …

Cognitive deficits in episodic ataxia type 2 mouse models

P Bohne, DBE Mourabit, M Josten… - Human molecular …, 2021 - academic.oup.com
Abstract Episodic ataxia type 2 (EA2) is a rare autosomal dominant disorder characterized
by motor incoordination, paroxysmal dystonia, vertigo, nystagmus and more recently …

Epilepsy and episodic ataxia type 2: family study and review of the literature

L Verriello, G Pauletto, A Nilo, I Lonigro, E Betto… - Journal of …, 2021 - Springer
Abstract Episodic ataxia type 2 (EA2) is a hereditary disorder characterized by paroxysmal
attacks of ataxia, vertigo and nausea, due to mutations in the CACNA1A gene, which …

Current challenges in the pathophysiology, diagnosis, and treatment of paroxysmal movement disorders

C Delorme, C Giron, D Bendetowicz… - Expert Review of …, 2021 - Taylor & Francis
Introduction Paroxysmal movement disorders mostly comprise paroxysmal dyskinesia and
episodic ataxia, and can be the consequence of a genetic disorder or symptomatic of an …

Early diagnosis of CAPOS syndrome before acute-onset ataxia—review of the literature and a new family

AD Rodriguez, M Prochazkova, SS Santos… - Pediatric Neurology, 2017 - Elsevier
Background CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and
sensorineural hearing loss) is a rare disease that has been reported in 22 patients so far. In …

The expanding spectrum of paroxysmal movement disorders: update from clinical features to therapeutics

EM McGovern, E Roze… - Current opinion in …, 2018 - journals.lww.com
The expanding spectrum of paroxysmal movement disorders: upd... : Current Opinion in
Neurology The expanding spectrum of paroxysmal movement disorders: update from clinical …

Vertigo related to central nervous system disorders

K Saha - Continuum: Lifelong Learning in Neurology, 2021 - journals.lww.com
Vertigo Related to Central Nervous System Disorders : CONTINUUM: Lifelong Learning in
Neurology Account Register Activate Subscription Help Subscribe American Academy of …

[HTML][HTML] Therapy of episodic ataxias: case report and review of the literature

D Orsucci, LM Raglione, M Mazzoni, M Vista - Drugs in context, 2019 - ncbi.nlm.nih.gov
Episodic ataxias (EAs) are characterized by recurrent, discrete episodes of vertigo and
ataxia. EA1 and EA2 are the two most common forms. In the interictal interval, myokymia is …