Therapy of episodic ataxias: case report and review of the literature

Orsucci, Daniele; Raglione, Laura Maria; Mazzoni, Monica; Vista, Marco

doi:10.7573/dic.212576

Cited by 14 publications

(12 citation statements)

References 32 publications

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“…Verapamil and acetazolamide are good for migraine [ 205 ]. Acetazolamide has been reported to be effective for ataxia to some cases [ 206 ] and ineffective for others [ 207 ]. Ethosuximide and valproic acid are effective for absence epilepsy [ 208 ].…”

Section: Summary Of the Clinical Featuresmentioning

confidence: 99%

Calcium channelopathies and intellectual disability: a systematic review

Kessi

Chen

Peng

et al. 2021

Orphanet J Rare Dis

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Background Calcium ions are involved in several human cellular processes including corticogenesis, transcription, and synaptogenesis. Nevertheless, the relationship between calcium channelopathies (CCs) and intellectual disability (ID)/global developmental delay (GDD) has been poorly investigated. We hypothesised that CCs play a major role in the development of ID/GDD and that both gain- and loss-of-function variants of calcium channel genes can induce ID/GDD. As a result, we performed a systematic review to investigate the contribution of CCs, potential mechanisms underlying their involvement in ID/GDD, advancements in cell and animal models, treatments, brain anomalies in patients with CCs, and the existing gaps in the knowledge. We performed a systematic search in PubMed, Embase, ClinVar, OMIM, ClinGen, Gene Reviews, DECIPHER and LOVD databases to search for articles/records published before March 2021. The following search strategies were employed: ID and calcium channel, mental retardation and calcium channel, GDD and calcium channel, developmental delay and calcium channel. Main body A total of 59 reports describing 159 cases were found in PubMed, Embase, ClinVar, and LOVD databases. Variations in ten calcium channel genes including CACNA1A, CACNA1C, CACNA1I, CACNA1H, CACNA1D, CACNA2D1, CACNA2D2, CACNA1E, CACNA1F, and CACNA1G were found to be associated with ID/GDD. Most variants exhibited gain-of-function effect. Severe to profound ID/GDD was observed more for the cases with gain-of-function variants as compared to those with loss-of-function. CACNA1E, CACNA1G, CACNA1F, CACNA2D2 and CACNA1A associated with more severe phenotype. Furthermore, 157 copy number variations (CNVs) spanning calcium genes were identified in DECIPHER database. The leading genes included CACNA1C, CACNA1A, and CACNA1E. Overall, the underlying mechanisms included gain- and/ or loss-of-function, alteration in kinetics (activation, inactivation) and dominant-negative effects of truncated forms of alpha1 subunits. Forty of the identified cases featured cerebellar atrophy. We identified only a few cell and animal studies that focused on the mechanisms of ID/GDD in relation to CCs. There is a scarcity of studies on treatment options for ID/GDD both in vivo and in vitro. Conclusion Our results suggest that CCs play a major role in ID/GDD. While both gain- and loss-of-function variants are associated with ID/GDD, the mechanisms underlying their involvement need further scrutiny.

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Section: Summary Of the Clinical Featuresmentioning

confidence: 99%

Calcium channelopathies and intellectual disability: a systematic review

Kessi

Chen

Peng

et al. 2021

Orphanet J Rare Dis

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“…Pharmacologically, little can be done to restore the channel loss-of-function. In EA2, however, acetazolamide (AAA)-a carbonic anhydrase inhibitor-can reduce the frequency of attacks, or completely abolish them [57]. So far, no placebo-controlled trials have been performed to assess the efficacy of AAA [58], and its therapeutic mechanism of action is not well understood.…”

Section: Ea1 and Ea2mentioning

confidence: 99%

Episodic Ataxias: Faux or Real?

Giunti¹,

Mantuano

Frontali

2020

IJMS

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The term Episodic Ataxias (EA) was originally used for a few autosomal dominant diseases, characterized by attacks of cerebellar dysfunction of variable duration and frequency, often accompanied by other ictal and interictal signs. The original group subsequently grew to include other very rare EAs, frequently reported in single families, for some of which no responsible gene was found. The clinical spectrum of these diseases has been enormously amplified over time. In addition, episodes of ataxia have been described as phenotypic variants in the context of several different disorders. The whole group is somewhat confused, since a strong evidence linking the mutation to a given phenotype has not always been established. In this review we will collect and examine all instances of ataxia episodes reported so far, emphasizing those for which the pathophysiology and the clinical spectrum is best defined.

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“…Additionally, some patients benefit from other anti-epilectic medications such as phenytoin, lamotrigine, valproic acid, or some benzodiazepines. Also, positive effects of the carbonic anhydrase inhibitor acetalozamide can be observed in some of EA1 patients [ 1 , 2 , 4 , 46 , 47 ].…”

Section: Episodic Ataxia Typementioning

confidence: 99%

“…Alternatively, 4-aminopyridine can be used. Also, there is a single report of positive effects of a combined use of acetazolamide and levetiracetam [ 2 , 3 , 4 , 46 , 47 , 48 ].…”

Section: Episodic Ataxia Typementioning

confidence: 99%

Involvement of the Peripheral Nervous System in Episodic Ataxias

Koźmiński¹,

Pera

2020

Biomedicines

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Episodic ataxias comprise a group of inherited disorders, which have a common hallmark—transient attacks of ataxia. The genetic background is heterogeneous and the causative genes are not always identified. Furthermore, the clinical presentation, including intraictal and interictal symptoms, as well as the retention and progression of neurological deficits, is heterogeneous. Spells of ataxia can be accompanied by other symptoms—mostly from the central nervous system. However, in some of episodic ataxias involvement of peripheral nervous system is a part of typical clinical picture. This review intends to provide an insight into involvement of peripheral nervous system in episodic ataxias.

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Therapy of episodic ataxias: case report and review of the literature

Cited by 14 publications

References 32 publications

Calcium channelopathies and intellectual disability: a systematic review

Calcium channelopathies and intellectual disability: a systematic review

Episodic Ataxias: Faux or Real?

Involvement of the Peripheral Nervous System in Episodic Ataxias

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