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Ataxia (and Dysmetria)
Published in Alexander R. Toftness, Incredible Consequences of Brain Injury, 2023
Sometimes a person does not consistently experience ataxia—the symptoms may come and go. In these cases, it is referred to as episodic ataxia. Episodic ataxia is also usually hereditary. Depending on the type of episodic ataxia, the episodes may last for just seconds or minutes, or in a more severe type, from hours to days (Ashizawa & Xia, 2016). Episodes may be triggered due to changes in posture, motion, or emotional state, resulting in temporary ataxia symptoms (Strupp et al., 2007). Additionally, episodic ataxia is often associated with symptoms such as sensations of spinning (see Vertigo), migraines (see Migraine Headaches), and seizures (see Seizures), depending on the subtype (Rajakulendran et al., 2007).
Neurogenetics
Published in John W. Scadding, Nicholas A. Losseff, Clinical Neurology, 2011
Sonia Gandhi, Sarah Tabrizi, Nicholas Wood
This is due to mutations in the CACNA1A gene. Interestingly, mutations in the CACNA1A gene account for a number of different disorders: episodic ataxia, familial hemiplegic migraine and SCA 6, which are termed ‘allelic’. Although distinct disorders, patients with CACNA1A mutations may exhibit overlapping features. Both EA1 and EA2 are inherited in an autosomal dominant fashion and treatment with acetazolamide brings relief in some patients. Recently, it has emerged that there are other patients with episodic ataxia that do not fit into either subgroup and there remain more episodic ataxia genes to be found.
The Problems
Published in John Greene, Ian Bone, Understanding Neurology a problem-orientated approach, 2007
The onset, natural history, and the associated symptoms of ataxia are of diagnostic relevance. In particular, the effect of eye closure on ataxia must be determined. Motor symptoms such as dysarthria (see page 163) are invariably associated with cerebellar ataxia and symptoms of peripheral sensory disturbance (burning hands and feet, numbness) are common with sensory ataxia. Age of onset and family history are very important in slowly progressive cerebellar ataxia as so many of these rare syndromes have a hereditary basis. Cerebellar ataxia may be acute, subacute, or chronic and a list of possible causes is provided (Table 39. Rarely, patients may experience symptoms of an intermittent ataxia, appearing normal in between attacks (episodic ataxia). Sensory ataxia may be acute (e.g. brainstem stroke or demyelination), subacute (e.g. vitamin B12 deficiency, paraneoplastic neuropathy) or part of a chronic progressive myelopathy (e.g. tabes dorsalis, demyelination) or neuropathy (e.g. demyelinating peripheral neuropathy). Common causes of sensory ataxia are listed (Table 40.
Coincidental occurance of episodic ataxia and multiple sclerosis: a case report and review of the literature
Published in International Journal of Neuroscience, 2022
Melike Batum, Ayşın Kısabay Ak, Güldeniz Çetin, Hamide Betül Gerik Çelebi, Sırrı Çam, Hatice Mavioğlu
Episodic ataxia is a clinical condition characterized by episodes of balance and impairment that last minutes to hours. It can be inherited or occur sporadically. It can also be seen sporadically in epilepsy, basilar migraine, multiple sclerosis, vertebrobasilar ischaemia, and labyrinth diseases. Apart from these. Symptoms of paroxysmal dysarthria-ataxia (secondary PDA) may also be present. Attacks of paroxysmal ataxia of primary type have been associated with genetic etiologies (EA 1-7) [1]. Hereditary episodic ataxias, spinocerebellar ataxia type 6, some mitochondrial disorders (such as pyruvate decarboxylase deficiency and pyruvate dehydrogenase deficiency), aminoaciduria (such as Hartnup disease, ketoaciduria, and isovaleric acidaemia), and hyperammonaemia due to urea cycle enzyme deficiency can also lead to episodic ataxia [1].
Approaches for the discovery of drugs that target K Na 1.1 channels in KCNT1-associated epilepsy
Published in Expert Opinion on Drug Discovery, 2022
Barbara Miziak, Stanisław J Czuczwar
Channelopathies are genetically determined or acquired disorders of ion channel proteins. In a broad pathophysiological sense, channelopathies may affect all organs and systems in whose cells ion channel expression is present [54]. The vast majority of central nervous system channelopathies manifest already in childhood or even early infancy. The symptoms are usually of a paroxysmal or episodic nature, caused by a transient impairment of homeostatic mechanisms regulating membrane excitability. In addition to epileptic seizures, there may be many episodic symptoms such as migraine, alternating hemiplegia or episodic ataxia. Chronic disorders include among others: intellectual disability, spinocerebellar ataxias, and autism spectrum disorders [54].
Paroxysmal movement disorders – practical update on diagnosis and management
Published in Expert Review of Neurotherapeutics, 2019
Claudio M. De Gusmao, Laura Silveira-Moriyama
Many causes of secondary paroxysmal dyskinesias have been reported, and studies evaluating the most frequent etiologies may be subject to referral bias. In the literature, demyelinating lesions, cerebrovascular disease, trauma, and metabolic disorders seem to be most commonly reported. Various drugs targeting the central nervous system can cause chorea or ataxia, and in some of those, the disturbance can be intermittent. Episodic ataxia or chorea related to use of anti-epileptic drug is not an uncommon finding in clinical practice, but are conversely rarely reported in the literature. Table 5 lists several causes of secondary paroxysmal dyskinesias.