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Last update 08 May 2025

Spinocerebellar Ataxia 10

Last update 08 May 2025

Basic Info

Synonyms

SCA10, SCA10 Spinocerebellar Ataxia 10, SPINOCEREBELLAR ATAXIA 10

+ [7]

Introduction

Main features described as slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances. Prevalence is unknown. Many kindreds have been found in Mexican and Brazilian populations. Age of onset ranges from 18 to 45 years. Caused by an ATTCT pentanucleotide repeat expansion in intron 9 of the ATXN10 gene (22q13). Exact pathogenesis has not been determined but RNA processing may be involved.

Drugs associated with Spinocerebellar Ataxia 10

Trigriluzole

Target

EAAT2 x NMDA receptor x Nav1.5 x VGSCs

Mechanism

EAAT2 modulators [+3]

Active Org.

Biohaven Pharmaceuticals, Inc. [+3]

Originator Org.

Yale University

Active Indication

Machado-Joseph Disease [+7]

Inactive Indication

Alzheimer Disease [+2]

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

Clinical Trials associated with Spinocerebellar Ataxia 10

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.

NCT04495426

/ Unknown statusNot ApplicableIIT

Genetic Mechanism of Conserved Ancestral Haplotype in SCA10

Spinocerebellar ataxia type 10 (SCA10) is a hereditary ataxia whose ancestral mutation occurred in East Asia. The mutation is likely to have migrated during peopling of American continents from East Asia. We found a specific rare DNA variation associated with SCA10. We test whether this variation played a key role in the birth and subsequent spreading of SCA10 mutation.

Start Date15 Sep 2020

Sponsor / Collaborator

The Methodist Hospital Research Institute

[+1]

NCT03701399

/ Active, not recruitingPhase 3

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

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

Start Date08 Mar 2019

Sponsor / Collaborator

Biohaven Pharmaceuticals, Inc.

100 Clinical Results associated with Spinocerebellar Ataxia 10

100 Translational Medicine associated with Spinocerebellar Ataxia 10

0 Patents (Medical) associated with Spinocerebellar Ataxia 10

169

Literatures (Medical) associated with Spinocerebellar Ataxia 10

01 Apr 2025·Journal of Neurology

The impact of interrupted ATXN10 expansions on clinical findings of spinocerebellar ataxia type 10

Article

Author: Miglorini, Elaine ; Teive, Helio G ; Ashizawa, Tetsuo ; Saraiva-Pereira, Maria Luiza ; Massuyama, Breno ; Barsottini, Orlando ; Mergener, Rafaella ; Furtado, Gabriel Vasata ; Pedroso, José Luiz ; Jardim, Laura Bannach ; Hasan, Ali

BACKGROUNDSpinocerebellar ataxia type 10 (SCA10), due to an ATTCT repeat expansion in ATXN10, has variable expressivity and the role of presence (ATTCTint +) and absence (ATTCTint-) of interruptions in the repeat is not clear. We aimed to describe the relations between ATTCTint + and age at onset, seizures, and neurologic severity in ataxic and non-ataxic carriers from Brazil.METHODSFamily, age at onset (AO), and seizures data plus DNA were obtained from symptomatic carriers already diagnosed in Porto Alegre, Curitiba, and São Paulo, Brazil. Patients and their relatives were invited to be evaluated through Scale of Assessment and Rating of Ataxia (SARA) and other clinical scales; a SARA > 2.5 classified subjects as ataxic carriers. Repeat-primed PCR (RP-PCR) defined the expansions with (ATTCTint +) or without (ATTCTint-) interruptions. Comparisons were performed for a p level of 0.05.RESULTSAmong 78 ataxic carriers, earlier AO (p = 0.039) and higher occurrences of epilepsy (p < 0.0001) were seen in subjects with ATTCTint + than in those with ATTCTint-. Clinical scales were worse in 34 ataxics than in 7 non-ataxics and 10 related controls (p = 0.006) and did not discriminate non-ataxics from controls. The 11 ataxic ATTCTint + carriers had higher SARA scores per year of disease duration than the 23 ATTCTint- carriers (r = 0.879, beta = 0.45, p = 0.0001).DISCUSSIONATTCTint + carriers had worse clinical findings than ATTCTint- carriers: earlier AO, more seizures, and worse ataxia scores. Interruptions in the expanded repeat have a real impact in SCA10 phenotype.

01 Nov 2024·Annals of Human Genetics

Spinocerebellar ataxia type 10 and Huntington disease‐like 2 in Venezuela: Further evidence of two different ancestral founder effects

Article

Author: Ikonomu, Vassiliki ; Arias, Sergio ; Paradisi, Irene

AbstractIntroductionThe American continent populations have a wide genetic diversity, as a product of the admixture of three ethnic groups: Amerindian, European, and African Sub‐Saharan. Spinocerebellar ataxia type 10 (SCA10) and Huntington disease‐like 2 (HDL2) have very ancient ancestral origins but are restricted to two populations: Amerindian and African Sub‐Saharan, respectively. This study aimed to investigate the genetic epidemiological features of these diseases in Venezuela.MethodsIn‐phase haplotypes with the expanded alleles were established in seven unrelated index cases diagnosed with SCA10 and in 11 unrelated index cases diagnosed with HDL2. The origins of remote ancestors were recorded.ResultsThe geographic origin of the ancestors showed grouping in clusters. SCA10 had a minimal general prevalence of 1:256,174 families in the country, but within the identified geographic clusters, the prevalence ranged from 5 per 100,000 to 43 per 100,000 families. HDL2 had a general prevalence of 1:163,016 families, however, within the clusters, the prevalence ranged from 31 per 100,000 to 60 per 100,000 families. The locus‐specific haplotype shared by all families worldwide, including the Venezuelans, supports a single old ancestral origin in each case.ConclusionKnowing the genetic ancestry and geographic origins of patients in Ibero‐American mixed populations could have significant diagnostic implications; thus, both diseases in Venezuela should always be first explored in patients with a suggestive phenotype and ancestors coming from the same known geographic clusters.

03 Sep 2024·Human Molecular Genetics

Extended haplotype with rs41524547-G defines the ancestral origin of SCA10

Article

Author: Skov, Laurits ; Yabe, Ichiro ; Vincent, Justin ; Hashem, Vera ; Zhang, Linwei ; Gan, Shi Rui ; Johnson, Kristy L ; Arredondo, Maria J ; McFarland, Karen N ; Zeng, Desmond ; Ashizawa, Tetsuo ; Rasmussen, Astrid ; Tiwari, Anjana

AbstractSpinocerebellar ataxia type 10 (SCA10) is a rare autosomal dominant ataxia caused by a large expansion of the (ATTCT)n repeat in ATXN10. SCA10 was described in Native American and Asian individuals which prompted a search for an expanded haplotype to confirm a common ancestral origin for the expansion event. All patients with SCA10 expansions in our cohort share a single haplotype defined at the 5′-end by the minor allele of rs41524547, located ~35 kb upstream of the SCA10 expansion. Intriguingly, rs41524547 is located within the miRNA gene, MIR4762, within its DROSHA cleavage site and just outside the seed sequence for mir4792-5p. The world-wide frequency of rs41524547-G is less than 5% and found almost exclusively in the Americas and East Asia—a geographic distribution that mirrors reported SCA10 cases. We identified rs41524547-G(+) DNA from the 1000 Genomes/International Genome Sample Resource and our own general population samples and identified SCA10 repeat expansions in up to 25% of these samples. The reduced penetrance of these SCA10 expansions may be explained by a young (pre-onset) age at sample collection, a small repeat size, purity of repeat units, or the disruption of miR4762-5p function. We conclude that rs41524547-G is the most robust at-risk SNP allele for SCA10, is useful for screening of SCA10 expansions in population genetics studies and provides the most compelling evidence to date for a single, prehistoric origin of SCA10 expansions sometime prior to or during the migration of individuals across the Bering Land Bridge into the Americas.

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