Request Demo

Last update 23 Jan 2025

Spinocerebellar Ataxia 8

Last update 23 Jan 2025

Basic Info

Synonyms

SCA8, SCA8 Spinocerebellar ataxia 8, SPINOCEREBELLAR ATAXIA 8

+ [6]

Introduction

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.

Drugs associated with Spinocerebellar Ataxia 8

Trigriluzole

Target

EAAT2 x NMDA receptor x Nav1.5 x VGSCs

Mechanism

EAAT2 modulators [+3]

Active Org.

Biohaven Pharmaceuticals, Inc. [+9]

Originator Org.

Yale University

Active Indication

Machado-Joseph Disease [+8]

Inactive Indication

Alzheimer Disease [+4]

Drug Highest PhaseNDA/BLA

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

CAD-1883

Target

Potassium channel

Mechanism

Potassium channel agonists

Active Org.

Saniona AB

Originator Org.

Cadent Therapeutics, Inc.

Active Indication

Essential Tremor [+1]

Inactive Indication

Machado-Joseph Disease [+4]

Drug Highest PhasePhase 1

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

ENZ-001

Target

DMPK

Mechanism

DMPK gene modulators

Active Org.

Enzerna Biosciences, Inc.

Originator Org.

University of North Carolina System

Active Indication

Fuchs' Endothelial Dystrophy [+2]

Inactive Indication-

Drug Highest PhasePreclinical

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

Clinical Trials associated with Spinocerebellar Ataxia 8

NCT04301284

/ WithdrawnPhase 2

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.

Start Date01 Jun 2021

Sponsor / Collaborator

Cadent Therapeutics, Inc.

NCT03701399

/ Active, not recruitingPhase 3

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).

Start Date08 Mar 2019

Sponsor / Collaborator

Biohaven Pharmaceuticals, Inc.

NCT02960893

/ CompletedPhase 2/3

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).

Start Date15 Dec 2016

Sponsor / Collaborator

Biohaven Pharmaceuticals, Inc.

100 Clinical Results associated with Spinocerebellar Ataxia 8

100 Translational Medicine associated with Spinocerebellar Ataxia 8

0 Patents (Medical) associated with Spinocerebellar Ataxia 8

189

Literatures (Medical) associated with Spinocerebellar Ataxia 8

01 Mar 2025·Neurobiology of Disease

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

Article

Author: 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.

01 Dec 2024·Molecular Biology Reports

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

Article

Author: 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.

01 Sep 2024·Movement Disorders

STUB1 Mutations as Possible Genetic Modifiers in Spinocerebellar Ataxia Type 8

Article

Author: 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.

Analysis

Perform a panoramic analysis of this field.

view full example data

Chat with Hiro

Get started for free today!

Accelerate Strategic R&D decision making with Synapse, PatSnap’s AI-powered Connected Innovation Intelligence Platform Built for Life Sciences Professionals.

Start your data trial now!

Synapse data is also accessible to external entities via APIs or data packages. Empower better decisions with the latest in pharmaceutical intelligence.

Bio

Bio Sequences Search & Analysis

Chemical

Chemical Structures Search & Analysis

Spinocerebellar Ataxia 8

Basic Info

Related

Analysis