Last update 01 Nov 2024

ATXN8

Last update 01 Nov 2024

Basic Info

Synonyms

ataxin 8, Ataxin-8, ATXN8

+ [1]

Introduction-

Drugs associated with ATXN8

SRT-421

Target

ATXN8

Mechanism

ATXN8 gene modulators

Active Org.-

Originator Org.

Smart Therapeutics, Inc.

Active Indication-

Inactive Indication

Spinocerebellar Ataxias

Drug Highest PhasePending

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

100 Clinical Results associated with ATXN8

100 Translational Medicine associated with ATXN8

0 Patents (Medical) associated with ATXN8

Literatures (Medical) associated with ATXN8

01 Sep 2024·Movement Disorders

STUB1 Mutations as Possible Genetic Modifiers in Spinocerebellar Ataxia Type 8

Article

Author: Carretero‐Vilarroig, Lidón ; Martínez‐Torres, Irene ; Millán, Jose M. ; Baviera‐Muñoz, Raquel ; Aller, Elena ; Jaijo, Teresa ; Bataller, Luis ; Del Valle‐Carranza, Andrea ; Pedro‐Ibor, Ana

AbstractBackgroundSpinocerebellar ataxia type 8 (SCA8) is a dominantly inherited expansion disorder with highly variable penetrance. ATXN8OS/ATXN8 expanded alleles have been identified in association with other types of hereditary ataxias, pointing to a possible genetic synergism.ObjectivesWe aimed to further investigate the molecular background of patients with SCA8 diagnosis.MethodsPatients were selected from our cohort of 346 families. A total of 14 probands with SCA8 underwent additional investigation through exome sequencing.ResultsPathogenic heterozygous STUB1 variants were found in 21.4% of SCA8 patients (3 of 14) compared to only 0.5% in the non‐SCA8 group (1 of 222), indicating a statistically significant association (P < 0.05).ConclusionsThe findings reported in this study might suggest a genetic synergism between STUB1 and ATXN8OS/ATXN8 expanded alleles. Further studies are needed to validate this observation and better define the clinical impact of this genetic interaction.

01 Jul 2023·Neurosciences (Riyadh, Saudi Arabia)

Spinocerebellar ataxia type 8 presents as progressive supranuclear palsy.

Article

Author: Cao, Lanxiao ; Jiang, Lina ; Zhu, Weigang ; Zhao, Guohua

Spinocerebellar ataxia type 8 is a progressive neurodegenerative disease induced by expansion of CTA/CTG repeats in an untranslated region of the ATXN8/ATXN8OS gene. We report an elderly female patient presenting with rigidity, bradykinesia, ataxia and oculomotor defect at the disease onset age of 65 years old without family history, and hummingbird sign in cranial MRI, initially diagnosed as progressive supranuclear palsy (PSP). But genetic test showed that one allele of ATXN8OS gene had more than 131 CTA/CTG repeats which was a full penetrance mutant. It's possible that this is a case of PSP with an ATXN8OS gene mutation that doesn't contribute to the phenotype. Whether the ATXN8OS gene CTA/CTG repeats cause PSP phenotype needs further investigation with larger samples and pathological findings.

05 May 2023·Science Advances

Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia

Article

Author: Pamphlett, Roger ; Timmins, Hannah C ; Friend, Kathryn ; Kwok, John B ; Kiernan, Matthew C ; D'Silva, Susan ; Grima, Natalie ; Dobson-Stone, Carol ; McCann, Emily P ; Chan Moi Fat, Sandrine ; Zoing, Margaret ; Henden, Lyndal ; Adams, Lorel ; Halliday, Glenda M ; Fitzpatrick, Lauren ; Rowe, Dominic B ; Hobson, Lynne ; Williams, Kelly L ; Fearnley, Liam G ; Mazumder, Srestha ; Bahlo, Melanie ; Blair, Ian P

Pathogenic short tandem repeat (STR) expansions cause over 20 neurodegenerative diseases. To determine the contribution of STRs in sporadic amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), we used ExpansionHunter, REviewer, and polymerase chain reaction validation to assess 21 neurodegenerative disease-associated STRs in whole-genome sequencing data from 608 patients with sporadic ALS, 68 patients with sporadic FTD, and 4703 matched controls. We also propose a data-derived outlier detection method for defining allele thresholds in rare STRs. Excluding C9orf72 repeat expansions, 17.6% of clinically diagnosed ALS and FTD cases had at least one expanded STR allele reported to be pathogenic or intermediate for another neurodegenerative disease. We identified and validated 162 disease-relevant STR expansions in C9orf72 (ALS/FTD), ATXN1 [spinal cerebellar ataxia type 1 (SCA1)], ATXN2 (SCA2), ATXN8 (SCA8), TBP (SCA17), HTT (Huntington’s disease), DMPK [myotonic dystrophy type 1 (DM1)], CNBP (DM2), and FMR1 (fragile-X disorders). Our findings suggest clinical and pathological pleiotropy of neurodegenerative disease genes and highlight their importance in ALS and FTD.

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ATXN8

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