Spinocerebellar Ataxia 12

Last update 08 May 2025

Basic Info

Synonyms

SCA12, SCA12 Spinocerebellar Ataxia 12, SPINOCEREBELLAR ATAXIA 12

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Introduction

An autosomal dominant sub-type of spinocerebellar ataxia caused by mutation(s) in the PPP2R2B gene, encoding serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform. It presents with characteristic action tremors in the upper limbs, followed by other movement abnormalities.

Clinical Trials associated with Spinocerebellar Ataxia 12

NCT01793168

/ RecruitingNot Applicable

Coordination of Rare Diseases at Sanford

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access. Visit sanfordresearch.org/CoRDS to enroll.

Start Date01 Jul 2010

Sponsor / Collaborator

Sanford Health Corp.

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100 Clinical Results associated with Spinocerebellar Ataxia 12

100 Translational Medicine associated with Spinocerebellar Ataxia 12

0 Patents (Medical) associated with Spinocerebellar Ataxia 12

146

Literatures (Medical) associated with Spinocerebellar Ataxia 12

29 Jan 2025·Human Molecular Genetics

De novo missense variants in the PP2A regulatory subunit PPP2R2B in a neurodevelopmental syndrome: potential links to mitochondrial dynamics and spinocerebellar ataxias

Article

Author: Paden, Austin H ; de Vries, Bert B A ; Kollman, Grace J ; Bicknell, Louise S ; Li, Pan P ; Spillmann, Rebecca C ; Jong, Chian Ju ; Strack, Stefan ; Merrill, Ronald A ; Bend, Eric G ; Sullivan, Jennifer ; Shashi, Vandana ; Sandal, Priyanka ; Vulto-van Silfhout, Anneke T ; Pfundt, Rolph

AbstractThe heterotrimeric protein phosphatase 2A (PP2A) complex catalyzes about half of Ser/Thr dephosphorylations in eukaryotic cells. A CAG repeat expansion in the neuron-specific protein PP2A regulatory subunit PPP2R2B gene causes spinocerebellar ataxia type 12 (SCA12). We established five monoallelic missense variants in PPP2R2B (four confirmed as de novo) as a cause of intellectual disability with developmental delay (R149P, T246K, N310K, E37K, I427T). In addition to moderate to severe intellectual disability and developmental delay, affected individuals presented with seizures, microcephaly, aggression, hypotonia, as well as broad-based or stiff gait. We used biochemical and cellular assays, including a novel luciferase complementation assay to interrogate PP2A holoenzyme assembly and activity, as well as deregulated mitochondrial dynamics as possible pathogenic mechanisms. Cell-based assays documented impaired ability of PPP2R2B missense variants to incorporate into the PP2A holoenzyme, localize to mitochondria, induce fission of neuronal mitochondria, and dephosphorylate the mitochondrial fission enzyme dynamin-related protein 1. AlphaMissense-based pathogenicity prediction suggested that an additional seven unreported missense variants may be pathogenic. In conclusion, our studies identify loss-of-function at the PPP2R2B locus as the basis for syndromic intellectual disability with developmental delay. They also extend PPP2R2B-related pathologies from neurodegenerative (SCA12) to neurodevelopmental disorders and suggests that altered mitochondrial dynamics may contribute to mechanisms.

01 Dec 2024·Movement Disorders Clinical Practice

Bilateral Deep Brain Stimulation of Posterior Subthalamic Area in Patient with Spinocerebellar Ataxia Type 12

Letter

Author: Sun, Yi‐Min ; Wu, Jian‐Jun ; Lang, Li‐Qin ; Hu, Jie ; Shen, Bo ; Zhou, Xin‐Yue

01 Dec 2024·Molecular Biology Reports

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

Article

Author: Tian, Jun ; Cao, Lanxiao ; Yan, Yaping ; Zhou, Chen ; Zhao, Guohua ; Pu, Jiali ; Yin, Xinzhen ; Zhao, Gaohua ; Zhu, Zeyu ; Lu, Jinyu ; Zheng, Zhilin ; 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.

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Spinocerebellar Ataxia 12

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