Abnormal Saccades Differentiate Adolescent Onset Variant Ataxia Telangiectasia from Other Myoclonus Dystonia

Cherian, Ajith; Chandarana, Mitesh; Susvirkar, Ashish; Kajaria, Divya; Saraf, Udit; Krishnan, Syam

doi:10.4103/aian.aian_619_20

Cited by 4 publications

(2 citation statements)

References 9 publications

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“…Regarding the genetic markers in this channel, LOF variants in the Ca v 2.2 channel have been linked to progressive epilepsy dyskinesia, while GOF variants were once thought to be linked with myoclonic dystonia with painful cramps, but this has since been discredited. LOF mutations reduce neurotransmission by affecting Ca 2+ influx, but the mechanism behind GOF variations is not fully understood [39][40][41]. A rare genetic variant in the CACNA1B gene, which encodes the Ca v 2.2 channel, was found in patients with post-operative pain and high morphine use; however, its impact on the protein requires further investigation for proper phenotypic association [42].…”

Section: Cacna1a and Cacna1bmentioning

confidence: 99%

Ion Channel Genes in Painful Neuropathies

Ślęczkowska,

Misra,

Santoro

et al. 2023

Biomedicines

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Neuropathic pain (NP) is a typical symptom of peripheral nerve disorders, including painful neuropathy. The biological mechanisms that control ion channels are important for many cell activities and are also therapeutic targets. Disruption of the cellular mechanisms that govern ion channel activity can contribute to pain pathophysiology. The voltage-gated sodium channel (VGSC) is the most researched ion channel in terms of NP; however, VGSC impairment is detected in only <20% of painful neuropathy patients. Here, we discuss the potential role of the other peripheral ion channels involved in sensory signaling (transient receptor potential cation channels), neuronal excitation regulation (potassium channels), involuntary action potential generation (hyperpolarization-activated cyclic nucleotide-gated channels), thermal pain (anoctamins), pH modulation (acid sensing ion channels), and neurotransmitter release (calcium channels) related to pain and their prospective role as therapeutic targets for painful neuropathy.

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Section: Cacna1a and Cacna1bmentioning

confidence: 99%

Ion Channel Genes in Painful Neuropathies

Ślęczkowska,

Misra,

Santoro

et al. 2023

Biomedicines

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“…Patients with RELN variation can resemble those with SGCE variation including similar psychiatric abnormalities and alcohol responsiveness, except that they may be older at onset and have a milder disease course. Normal serum α-fetoprotein, immunoglobulin levels, absent telangiectasia, and possible autosomal dominant inheritance did not favor variant A-T. 1 Saccadic abnormalities may be seen in ADCY5 variation; however, lack of facial dyskinesia, no nocturnal aggravation of movement disorder, and absence of episodic painful dystonic posturing aggravated by stress or illness ruled against this diagnosis. Normal EEG and somatosensory evoked potentials eliminated progressive myoclonic epilepsy syndrome.…”

mentioning

confidence: 96%

Pearls & Oy-sters: SCA21 Due to TMEM240 Variation Presenting as Myoclonus Dystonia Syndrome

Cherian

Vijayaraghavan

et al. 2022

Neurology

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Spinocerebellar ataxia (SCA) 21 due to TMEM240 mutation characteristically presents insidiously with a delay in language, motor, and social skill acquisition. The condition typically progresses to severe cognitive impairment. We report a patient with SCA21, who presented with myoclonus dystonia (M-D) syndrome, whose dystonia showed a modest response to levodopa. Affected family members (mother and sibling of the proband) also had a similar phenotype. Neuropsychology evaluation of proband and afflicted family members revealed moderate impairments in attention, executive function, short-term and episodic memory, and marked impairments in planning, abstract reasoning, language and visuospatial functions. Normal electroencephalogram, alpha-fetoprotein levels and somatosensory evoked potentials helped to delineate SCA21 from other differential diagnoses. Motor impairment, pyramidal signs, and sensory impairment are usually absent in SCA21. This case highlights the importance of genetic testing in patients with M-D syndrome and supports a trial of levodopa for patients with dystonia from SCA21 due to TMEM240 mutation.

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