Episodic ataxia in a child with senataxin mutation

Sesh, S; Radhakrishnan, Ashalatha

doi:10.4103/0028-3886.232295

Cited by 5 publications

(5 citation statements)

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“…In a 4-year-old boy with normal development, unremarkable interictal neurological examination and EA, a heterozygous three-base pair deletion in SETX (c.135203911_135203913delTCA; p.D1024del) was detected by clinical exome sequencing. Unfortunately, segregation analysis on parents was not conducted to better asses the role of the variant [318]. Further studies are needed for understanding the role of SETX mutations in EA.…”

Section: Metabolic Disorders With Eamentioning

confidence: 99%

Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias

Garone

Capuano

Travaglini

et al. 2020

IJMS

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Paroxysmal movement disorders (PMDs) are rare neurological diseases typically manifesting with intermittent attacks of abnormal involuntary movements. Two main categories of PMDs are recognized based on the phenomenology: Paroxysmal dyskinesias (PxDs) are characterized by transient episodes hyperkinetic movement disorders, while attacks of cerebellar dysfunction are the hallmark of episodic ataxias (EAs). From an etiological point of view, both primary (genetic) and secondary (acquired) causes of PMDs are known. Recognition and diagnosis of PMDs is based on personal and familial medical history, physical examination, detailed reconstruction of ictal phenomenology, neuroimaging, and genetic analysis. Neurophysiological or laboratory tests are reserved for selected cases. Genetic knowledge of PMDs has been largely incremented by the advent of next generation sequencing (NGS) methodologies. The wide number of genes involved in the pathogenesis of PMDs reflects a high complexity of molecular bases of neurotransmission in cerebellar and basal ganglia circuits. In consideration of the broad genetic and phenotypic heterogeneity, a NGS approach by targeted panel for movement disorders, clinical or whole exome sequencing should be preferred, whenever possible, to a single gene approach, in order to increase diagnostic rate. This review is focused on clinical and genetic features of PMDs with the aim to (1) help clinicians to recognize, diagnose and treat patients with PMDs as well as to (2) provide an overview of genes and molecular mechanisms underlying these intriguing neurogenetic disorders.

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Section: Metabolic Disorders With Eamentioning

confidence: 99%

Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias

Garone

Capuano

Travaglini

et al. 2020

IJMS

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“…Autosomal dominant juvenileonset motor neuron disease (ALS4) is also characterized. There is a single case report of a 4 year old boy presenting with isolated severe EA attacks lasting 20-30 minutes, and intermittent mild impaired tandem gait between attacks [94]. Genetic testing excluded EAs 1,2,5,6.…”

Section: Aoa2 (Setx)mentioning

confidence: 99%

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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“…At present, the main MAO-B drugs include selegiline and rasagiline. For some therapies, a class of medications, such as coMT inhibitors and dopaminergic medications [5], must be added. Entacapone, opicapone, and andtolcapone are examples of COMT inhibitors.…”

Section: Mao-bmentioning

confidence: 99%

“…When you take levodopa or MAO-B drugs, a compound in your body called COMT renders some of the medication ineffective. Levodopa can be used more efficiently by the brain [5].…”

Section: Mao-bmentioning

confidence: 99%

Analysis of treatment methods for Parkinson's disease

2023

TNS

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This research mainly introduces the symptoms and harms of Parkinson's disease, as well as the mainstream treatment methods in the past five years and potential treatments for Parkinson's disease (PD) in the future. First of all, it talks about a biological treatment of PD. Levodopa and dopamine, which is currently the main drug used to relieve PD motor symptoms. It helps patients reduce motor symptoms as much as possible by supplementing the lack of dopamine in the brain. Secondly, it talks about MAO-B inhibitors, like medicine rasagiline and selegiline. These drugs increase dopamine availability by inhibiting dopamine metabolism, thereby reducing the symptoms of PD while reducing potential drug side effects. In addition, this research introduces two potential treatments for PD that are under development: nanomedicine and deep brain stimulation (DBS). The application of nanomedicine in PD treatment such as how it can improve the lives of PD patients through innovative methods in drug delivery, early diagnosis and nerve repair and some potential problems of nanomedicine during PD treatment, and how deep brain stimulation, a surgical treatment, can significantly reduce the symptoms of PD by implanting electrodes and stimulating specific brain areas, thereby improving patients' quality of life.

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Episodic ataxia in a child with senataxin mutation

Cited by 5 publications

References 0 publications

Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias

Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias

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

Analysis of treatment methods for Parkinson's disease

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