预约演示

更新于：2025-01-23

Spinocerebellar Ataxia 8

脊髓小脑性共济失调8型

更新于：2025-01-23

基本信息

别名

SCA8、SCA8 Spinocerebellar ataxia 8、SPINOCEREBELLAR ATAXIA 8

+ [6]

简介

Main features described as cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients. Other features include dysexecutive disorders and commonly psychiatric disorders.

关联

项与脊髓小脑性共济失调8型相关的药物

Trigriluzole

靶点

EAAT2 x NMDA receptor x Nav1.5 x VGSCs

作用机制

EAAT2调节剂 [+3]

在研机构

Biohaven Pharmaceuticals, Inc. [+9]

原研机构

Yale University

在研适应症

马查多-约瑟夫病 [+8]

非在研适应症

阿尔茨海默症 [+4]

最高研发阶段申请上市

首次获批国家/地区-

首次获批日期1800-01-20

CAD-1883

靶点

Potassium channel

作用机制

钾离子通道激动剂

在研机构

Saniona AB

原研机构

Cadent Therapeutics, Inc.

在研适应症

特发性震颤 [+1]

非在研适应症

马查多-约瑟夫病 [+4]

最高研发阶段临床1期

首次获批国家/地区-

首次获批日期1800-01-20

ENZ-001

靶点

DMPK

作用机制

DMPK基因调节剂

在研机构

Enzerna Biosciences, Inc.

原研机构

University of North Carolina System

在研适应症

Fuchs内皮营养不良 [+2]

非在研适应症-

最高研发阶段临床前

首次获批国家/地区-

首次获批日期1800-01-20

项与脊髓小脑性共济失调8型相关的临床试验

NCT04301284

/ Withdrawn临床2期

Phase 2 Randomized, Double-blind, Placebo-controlled Study to Evaluate the Safety, Tolerability, and Efficacy of CAD-1883 in Adults With Spinocerebellar Ataxia (Synchrony-1)

This is a randomized, double-blind, placebo-controlled Phase 2 study evaluating oral administration of CAD-1883 in the treatment of adults with a genotypic diagnosis of Spinocerebellar Ataxia (SCA). This study offers the opportunity to understand the safety, tolerability, and efficacy of CAD-1883 in the SCA patient population.

开始日期2021-06-01

申办/合作机构

Cadent Therapeutics, Inc.

NCT03701399

/ Active, not recruiting临床3期

A Phase III, Long-Term, Randomized, Double-blind, Placebo-controlled Trial of Troriluzole in Adult Subjects With Spinocerebellar Ataxia.

The purpose of this study is to compare the efficacy of Troriluzole (200mg once daily) versus placebo after 48 weeks of treatment in subjects with spinocerebellar ataxia (SCA).

开始日期2019-03-08

申办/合作机构

Biohaven Pharmaceuticals, Inc.

NCT02960893

/ Completed临床2/3期

A Phase IIb/III, Randomized, Double-blind, Placebo-controlled Trial of Troriluzole in Adult Subjects With Spinocerebellar Ataxia

The primary purpose of this study is to compare the efficacy of BHV-4157 (Troriluzole) 140 milligrams (mg) once daily versus placebo after 8 weeks of treatment in subjects with spinocerebellar ataxia (SCA).

开始日期2016-12-15

申办/合作机构

Biohaven Pharmaceuticals, Inc.

100 项与脊髓小脑性共济失调8型相关的临床结果

登录后查看更多信息

100 项与脊髓小脑性共济失调8型相关的转化医学

登录后查看更多信息

0 项与脊髓小脑性共济失调8型相关的专利（医药）

登录后查看更多信息

189

项与脊髓小脑性共济失调8型相关的文献（医药）

2025-03-01·Neurobiology of Disease

Cerebral cortical functional hyperconnectivity in a mouse model of spinocerebellar ataxia type 8 (SCA8)

Article

作者: Manikonda, Keerthi ; Popa, Laurentiu S ; Gerhart, Morgan L ; Ranum, Laura P W ; Ebner, Timothy J ; Nietz, Angela K ; Carter, Russell E

Spinocerebellar Ataxia Type 8 (SCA8) is an inherited neurodegenerative disease caused by a bidirectionally expressed CTG•CAG expansion mutation in the ATXN8 and ATXN8OS genes. While SCA8 patients have motor abnormalities, patients may also exhibit psychiatric symptoms and cognitive dysfunction. It is difficult to elucidate how the disease alters brain function in areas with little or no degeneration producing both motor and cognitive symptoms. Using transparent polymer skulls and CNS-wide GCaMP6f expression, we studied neocortical networks throughout SCA8 progression using wide-field Ca²⁺ imaging in a transgenic mouse model of SCA8. Compared to wild-type controls, neocortical networks in SCA8+ mice were hyperconnected globally, which leads to network configurations with increased global efficiency and centrality. At the regional level, significant network changes occurred in nearly all cortical regions, however mainly involved sensory and association cortices. Changes in functional connectivity in anterior motor regions worsened later in the disease. Near perfect decoding of animal genotype was obtained using a generalized linear model based on canonical correlation strengths between activity in cortical regions. The major contributors to decoding were concentrated in the somatosensory, higher visual and retrosplenial cortices and occasionally extended into the motor regions, demonstrating that the areas with the largest network changes are predictive of disease state.

2024-12-01·Molecular Biology Reports

Early-onset familial essential tremor is associated with nucleotide expansions of spinocerebellar ataxia in China

Article

作者: Cao, Lanxiao ; Tian, Jun ; Yan, Yaping ; Zhou, Chen ; Zhao, Guohua ; Pu, Jiali ; Yin, Xinzhen ; Zhao, Gaohua ; Zhu, Zeyu ; Zheng, Zhilin ; Lu, Jinyu ; Chen, Yanxing ; Zhang, Baorong ; Lv, Dayao

BACKGROUNDEssential tremor (ET) is a neurological disease characterized by action tremor in upper arms. Although its high heritability and prevalence worldwide, its etiology and association with other diseases are still unknown.METHODWe investigated 10 common spinocerebellar ataxias (SCAs), including SCA1, SCA2, SCA3, SCA6, SCA7, SCA8, SCA12, SCA17, SCA36, dentatorubral-pallidoluysian atrophy (DRPLA) in 92 early-onset familial ET pedigrees in China collected from 2016 to 2022.RESULTWe found one SCA12 proband carried 51 CAG repeats within PPP2R2B gene and one SCA3 proband with intermediate CAG repeats (55) with ATXN3 gene. The other 90 ET probands all had normal repeat expansions.CONCLUSIONTremor can be the initial phenotype of certain SCA. For early-onset, familial ET patients, careful physical examinations are needed before genetic SCA screening.

2024-09-01·Movement Disorders

STUB1 Mutations as Possible Genetic Modifiers in Spinocerebellar Ataxia Type 8

Article

作者: Carretero‐Vilarroig, Lidón ; Millán, Jose M. ; Martínez‐Torres, Irene ; 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.

分析

对领域进行一次全面的分析。

或

查看完整样例数据

来和芽仔聊天吧

立即开始免费试用!

智慧芽新药情报库是智慧芽专为生命科学人士构建的基于AI的创新药情报平台，助您全方位提升您的研发与决策效率。

立即开始数据试用!

智慧芽新药库数据也通过智慧芽数据服务平台，以API或者数据包形式对外开放，助您更加充分利用智慧芽新药情报信息。