Spinocerebellar ataxia type 23 (SCA23): a review

Wu, Fan; Wang, Xu; Li, Xiaohan; Teng, Huidi; Tian, Tian; Bai, Jing

doi:10.1007/s00415-020-10297-5

Cited by 3 publications

(5 citation statements)

References 98 publications

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“…This region is hypersensitive to DNAase I, suggesting that chromatin is open in the short CpG island that is a core of this region ( Figure 4 b). Strikingly, the dynorphin-encoding sequences may be a mutational hot spot; their missense mutations cause profound neurodegeneration in human subjects with neurodegenerative disorder SCA23 [ 20 , 134 , 135 , 136 ]. SCA23 mutations are enriched in CpGs suggesting a link of their origin or a pathogenic mechanism with methylation/demethylation processes [ 79 , 137 ].…”

Section: Discussionmentioning

confidence: 99%

“…Transcripts initiated in exon 4 are produced in the amygdala, striatum and hippocampus (Figure 1c). The dynorphin encoding sequences are also hot spot for mutations that cause the neurodegenerative disorder spinocerebellar ataxia type 23 [18][19][20] (Figure 3a). approximately 30% of total PDYN mRNA, while in other brain areas its expression is negligible.…”

Section: Prodynorphin Transcripts and Proteins In The Human Brainmentioning

confidence: 99%

“…Dysregulation of opioid peptides may cause depression, epilepsy and substance dependence [ 11 , 12 , 13 , 14 , 15 , 16 , 17 ]. Strikingly, mutations in dynorphins cause spinocerebellar ataxia SCA23 characterized by profound neurodegeneration in the brain of affected subjects [ 18 , 19 , 20 ]. Dynorphin expression and/or release is activated by stress [ 21 ].…”

Section: Introductionmentioning

confidence: 99%

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Epigenetic and Transcriptional Control of the Opioid Prodynorphine Gene: In-Depth Analysis in the Human Brain

et al. 2021

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Neuropeptides serve as neurohormones and local paracrine regulators that control neural networks regulating behavior, endocrine system and sensorimotor functions. Their expression is characterized by exceptionally restricted profiles. Circuit-specific and adaptive expression of neuropeptide genes may be defined by transcriptional and epigenetic mechanisms controlled by cell type and subtype sequence-specific transcription factors, insulators and silencers. The opioid peptide dynorphins play a critical role in neurological and psychiatric disorders, pain processing and stress, while their mutations cause profound neurodegeneration in the human brain. In this review, we focus on the prodynorphin gene as a model for the in-depth epigenetic and transcriptional analysis of expression of the neuropeptide genes. Prodynorphin studies may provide a framework for analysis of mechanisms relevant for regulation of neuropeptide genes in normal and pathological human brain.

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Section: Discussionmentioning

confidence: 99%

Section: Prodynorphin Transcripts and Proteins In The Human Brainmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Epigenetic and Transcriptional Control of the Opioid Prodynorphine Gene: In-Depth Analysis in the Human Brain

et al. 2021

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“…Tremor is seen in nearly 30% of patients with SCA23 [ 128 ], characteristically as a postural tremor of the upper limbs and head tremor [ 129 130 131 ]. Rarely there may be rest tremor, and neck posturing [ 129 130 131 ].…”

Section: Classification Of Scamentioning

confidence: 99%

Tremor in Spinocerebellar Ataxia: A Scoping Review

Mukherjee,

Pandey

2024

Tremor and Other Hyperkinetic Movements

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“…Genetic counselling helps individuals and families to understand the risk to the proband's family members. Individuals of childbearing age should make family‐planning decisions (Wu et al, 2021). The offspring of SCA11 carriers are 50% more likely to inherit pathogenic variants of TTBK2 .…”

Section: Prognosis Follow‐up and Genetic Counselling Of Sca11 Patientsmentioning

confidence: 99%

Spinocerebellar ataxia type 11 (SCA11): An update

Gong

Lei

2023

Eur J of Neuroscience

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Spinocerebellar ataxias, also called autosomal dominant cerebellar ataxias, are a group of neurological genetic diseases characterised by chronic, progressive cerebellar ataxia. The clinical hallmark of spinocerebellar ataxia is the loss of balance and coordination, accompanied by slurred speech. Spinocerebellar ataxia type 11 is a rare subtype of spinocerebellar ataxia caused by mutations in the tau tubulin kinase 2 gene. Patients with spinocerebellar ataxia are clinically characterised by slowly progressive cerebellar ataxia, trunk and limb ataxia, and eye movement abnormalities with occasional pyramidal features. Peripheral neuropathy and dystonia are rare. According to the literature, only nine families affected with spinocerebellar ataxia have been reported worldwide. Herein, a series of spinocerebellar ataxia cases are discussed in detail to determine the potential research direction of this dysfunction, including its epidemiology, clinical features, genetic characteristics, diagnosis and differential diagnosis, pathogenic mechanisms, treatment, prognosis, follow-up, genetic counselling and future perspectives, and to improve the overall understanding of spinocerebellar ataxia among clinicians, researchers and patients.

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Spinocerebellar ataxia type 23 (SCA23): a review

Cited by 3 publications

References 98 publications

Epigenetic and Transcriptional Control of the Opioid Prodynorphine Gene: In-Depth Analysis in the Human Brain

Epigenetic and Transcriptional Control of the Opioid Prodynorphine Gene: In-Depth Analysis in the Human Brain

Tremor in Spinocerebellar Ataxia: A Scoping Review

Spinocerebellar ataxia type 11 (SCA11): An update

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