The neurological update: therapies for cerebellar ataxias in 2020

Gandini, Jordi; Manto, Mario; Bremova-Ertl, Tatiana; Feil, Katharina; Strupp, Michael

doi:10.1007/s00415-020-09717-3

Cited by 33 publications

(29 citation statements)

References 70 publications

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“…In this view, the field of non-invasive brain stimulation has recently gained much attention in the scientific community, in particular because stimulation techniques are non-invasive, provide novel information on cerebellar physiology, may modulate neural plasticity irrespectively of the underlying disease [26][27][28][29][30][31][32][33], and can be tailored to the needs of specific individuals patients.…”

Section: Introductionmentioning

confidence: 99%

Non-Invasive Cerebellar Stimulation in Neurodegenerative Ataxia: A Literature Review

Benussi

Pascual‐Leone

Borroni

2020

IJMS

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Cerebellar ataxias are a heterogenous group of degenerative disorders for which we currently lack effective and disease-modifying interventions. The field of non-invasive brain stimulation has made much progress in the development of specific stimulation protocols to modulate cerebellar excitability and try to restore the physiological activity of the cerebellum in patients with ataxia. In light of limited evidence-based pharmacologic and non-pharmacologic treatment options for patients with ataxia, several different non-invasive brain stimulation protocols have emerged, particularly employing repetitive transcranial magnetic stimulation (rTMS) or transcranial direct current stimulation (tDCS) techniques. In this review, we summarize the most relevant rTMS and tDCS therapeutic trials and discuss their implications in the care of patients with degenerative ataxias.

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Section: Introductionmentioning

confidence: 99%

Non-Invasive Cerebellar Stimulation in Neurodegenerative Ataxia: A Literature Review

Benussi

Pascual‐Leone

Borroni

2020

IJMS

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“…In a pilot study and in an experimental trial, 4-Aminopyridine (4-AP)-a K + channel blocker-was effective in reducing the frequency of EA2 episodes and improving patient wellbeing [61,62]. 4-AP acts on Purkinje cells, by ameliorating their pace-making activities [63,64].…”

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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The neurological update: therapies for cerebellar ataxias in 2020

Cited by 33 publications

References 70 publications

Non-Invasive Cerebellar Stimulation in Neurodegenerative Ataxia: A Literature Review

Non-Invasive Cerebellar Stimulation in Neurodegenerative Ataxia: A Literature Review

Episodic Ataxias: Faux or Real?

Involvement of the Peripheral Nervous System in Episodic Ataxias

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