CureSCA12

Research

Everything published on SCA12

SCA12 was identified in 1999. Since then 142 papers have carried it in their title. All of them are listed here, year by year, each linked to its source.

New here? See what all of these papers add up to

142

papers listed

1999–2026

years covered

87

journals and books

282

further related papers

The shape of the field

SCA12 research over time: a quiet twenty years, then a rise

For two decades after SCA12 was named, a handful of papers appeared each year. Since 2021 that has changed markedly. For a condition this rare, a rising line is the most hopeful thing on this page.

Publications per year from 1999 to 2026, peaking at 16 in 2024. Each column links to that year in the list below.

0816 1 paper in 19990 papers in 20006 papers in 20012 papers in 20023 papers in 20034 papers in 20042 papers in 20052 papers in 20062 papers in 20073 papers in 20086 papers in 20098 papers in 20105 papers in 20118 papers in 20121 paper in 20134 papers in 20143 papers in 20154 papers in 20163 papers in 20174 papers in 20184 papers in 20192 papers in 202012 papers in 20217 papers in 20228 papers in 202316 papers in 20247 papers in 202514 papers in 2026 (year still in progress) 1614 199920052010201520202026
Papers per year whose title names SCA12 or PPP2R2B. Scroll the chart sideways on a narrow screen; the year list below is where you open a year. 2026 is still in progress.

How understanding developed

How understanding of SCA12 developed

The chart shows how much was published. This is the short version of what changed.

  1. 1999

    SCA12 is first identified

    SCA12 was described as a distinct form of spinocerebellar ataxia and linked to an expanded CAG repeat in the PPP2R2B gene on chromosome 5. This is what made it possible to identify SCA12 specifically, rather than grouping it with other ataxias.

    Holmes et al., Nature Genetics, 1999

  2. 2000s

    Recognised as a significant cause of ataxia in India

    Reports from Indian centres established that SCA12, while rare worldwide, accounts for a meaningful share of inherited ataxia diagnoses in parts of North India. Much of the clinical description of SCA12 comes from this work.

    Srivastava et al., Annals of Neurology, 2001

  3. 2017

    The threshold is questioned

    A Delhi study described 18 patients with 43–50 repeats — below the 51 then used as the cutoff — whose illness looked like typical SCA12, and proposed 43 as the pathogenic threshold. It is why the grey zone on our explainer page is drawn as a grey zone.

    Srivastava et al., Brain, 2017

  4. 2026

    The first randomised trial

    Sixty people with SCA12 at AIIMS New Delhi were given extended-release propranolol or a placebo. Propranolol reduced tremor scores and improved quality of life, and was well tolerated. It treats a symptom, not the condition — but it is the first randomised evidence of any kind in SCA12.

    Mohapatra et al., Movement Disorders, 2026

  5. Today

    Clinical description continues to be refined

    Cohort studies, cell models grown from patients’ own cells, and now a first trial continue to sharpen the picture of how SCA12 presents, what goes wrong in the cell, and what might help. The library below tracks all of it, year by year.

Start here

Seven papers that tell the story of SCA12

A reading path through the library, in the order the field learned things. Each summary is written from the paper’s own abstract, and says only what that abstract says. If you would rather see the whole field at once, what the research adds up to draws it as pictures. New to the condition? Our plain-language guide to SCA12 is the place to start before any of these.

  1. 1999

    Where it starts

    Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12

    The paper that identified SCA12: an expanded CAG repeat in the 5′ region of the PPP2R2B gene, found in an American family with ataxia.

    Holmes SE, O'Hearn EE et al. · Nature genetics

  2. 2005

    Why North India

    Evidence of a common founder for SCA12 in the Indian population

    Found SCA12 in about 16% of dominant ataxia cases at AIIMS, with expanded alleles of 51–69 repeats, and showed the affected Indian families share one ancestral haplotype — a common founder — not shared by the American family, so the expansion arose at least twice.

    Bahl S, Virdi K et al. · Annals of human genetics

  3. 2008

    What might go wrong in the cell

    The spinocerebellar ataxia 12 gene product and protein phosphatase 2A regulatory subunit Bbeta2 antagonizes neuronal survival by promoting mitochondrial fission

    In cell models, the SCA12 gene product Bβ2 moved to mitochondria under stress and drove their fragmentation and cell death, while silencing it protected neurons. The origin of the mitochondrial hypothesis for SCA12.

    Dagda RK, Merrill RA et al. · The Journal of biological chemistry Free full text of The spinocerebellar ataxia 12 gene product and protein phosphatase 2A regulatory subunit Bbeta2 antagonizes neuronal survival by promoting mitochondrial fission

  4. 2017

    The threshold is questioned

    Clinical behaviour of spinocerebellar ataxia type 12 and intermediate length abnormal CAG repeats in PPP2R2B

    Described 18 patients with 43–50 repeats — below the 51 then used as the cutoff — whose clinical picture matched typical SCA12, and proposed 43 as the pathogenic threshold. Also suggested SCA12 may be less geographically restricted than assumed.

    Srivastava AK, Takkar A et al. · Brain

  5. 2022

    What it looks like, in numbers

    Clinical, Radiological, and Genetic Profile of Spinocerebellar Ataxia 12: A Hospital-Based Cohort Analysis

    49 genetically confirmed patients: tremor was the first symptom in 73.5%, average onset 46, 79.6% from the Agarwal community, expanded repeats from 40 to 72, and no correlation between repeat length and age at onset.

    Ganaraja VH, Holla VV et al. · Tremor and other hyperkinetic movements Free full text of Clinical, Radiological, and Genetic Profile of Spinocerebellar Ataxia 12: A Hospital-Based Cohort Analysis

  6. 2026

    The current clinical picture

    Spinocerebellar Ataxia Type 12: Spectrums of Movement Disorders and Clinical Features

    The 2026 review: tremor, typically action or postural, is usually first and can precede cerebellar signs by years; dystonia, parkinsonism and psychiatric symptoms are also reported; a strict CAG cutoff has not been universally established.

    Rafiei MA, Sadeghzadeh S et al. · Neuro-degenerative diseases Free full text of Spinocerebellar Ataxia Type 12: Spectrums of Movement Disorders and Clinical Features

  7. 2026

    The first trial

    Propranolol for Tremors in Spinocerebellar Ataxia Type 12: A Randomized Clinical Trial

    Sixty patients randomised to extended-release propranolol or placebo. Propranolol significantly reduced tremor scores and improved quality of life, with good tolerability. A treatment for a symptom, and the first randomised trial in SCA12.

    Mohapatra P, Kumar Srivastava A et al. · Movement disorders

The library

Every SCA12 paper, year by year

Every paper in PubMed, Europe PMC or OpenAlex whose title names SCA12 or the PPP2R2B gene, newest first, compiled on 8 September 2026. Anything those catalogues miss is added by hand and marked as such. Listing a paper is not an endorsement of anything it discusses.

Show all 142 papers, year by year

2026

14 papers
  1. A Novel Case of SCA42 Masquerading as SCA12 in Clinical Presentation

    Sanjiv Chamraj, Sharan Srinivasan

    Journal of Neurology Neurosurgery & Psychiatry Research

  2. Abnormal Amyloidogenesis Identified in Plasma of Patients with Spinocerebellar Ataxia Type 12

    Banerjee R, Sengupta S, Rungta J et al.

    Cerebellum

  3. Characterizing cranial tremors in a case of spinocerebellar ataxia type 12: a unique positional tremor

    Jha S, Mukherjee A, Gohel AB et al.

    Acta neurologica Belgica

    Letter

  4. Effect of dance movement psychotherapy in patients with spinocerebellar ataxia 12: A pilot feasibility study

    Shubha Bangur, Sanchari Nag, Jyoti Rungta et al.

    Annals of Movement Disorders

  5. Establishment of four induced pluripotent stem cell lines (IGIBi028-A, IGIBi029-A, IGIBi030-A, and IGIBi031-A) from peripheral blood derived cells of Spinocerebellar ataxia Type 12 patients

    Ahmad I, Reza S, Singh N et al.

    Stem cell research

  6. Machine Learning Aided Kinematic Profiling of Reaching Movements Separates Spinocerebellar Ataxia type 12 and Essential Tremor

    Bayen AB, Choudhury S, Majumdar S et al.

    Cerebellum

  7. Metabolic and Structural Insights of Cerebellar Dysfunction in Spinocerebellar Ataxia Type 12

    Pankaj P, Kumaran SS, Srivastava AK et al.

    Magnetic resonance in chemistry

  8. Mitochondrial quality control gene expression in peripheral blood mononuclear cells of SCA12 patients

    Ansari S, Rungta J, Banerjee R et al.

    Parkinsonism & related disorders

  9. PPP2R2B targets the JAK2-STAT3 signaling pathway to regulate ferroptosis in breast cancer cells

    Luo W, Yang M, Tan Y et al.

    Biochemistry and cell biology = Biochimie et biologie cellulaire

  10. Propranolol for Tremors in Spinocerebellar Ataxia Type 12: A Randomized Clinical Trial

    Mohapatra P, Kumar Srivastava A, Garg D et al.

    Movement disorders

    Randomized Controlled Trial

  11. Spinocerebellar ataxia type 12 in a 52-year-old female

    Bose R, Smith A

    The New Zealand medical journal

    Case report

  12. Spinocerebellar Ataxia Type 12: From CAG Repeat Expansion to Cortico-Cerebellar Neurodegeneration

    Ajinkya Lade*

    Zenodo

  13. Spinocerebellar Ataxia Type 12: Spectrums of Movement Disorders and Clinical Features

    Rafiei MA, Sadeghzadeh S, Salari M et al.

    Neuro-degenerative diseases

    ReviewFree full text of Spinocerebellar Ataxia Type 12: Spectrums of Movement Disorders and Clinical Features

  14. TBX1 suppresses colorectal cancer cells via PPP2R2B-mediated inhibition of MAPK/ERK and PI3K/AKT pathways

    Zhao M, Wang J, Xie JY et al.

    Cellular signalling

2025

7 papers
  1. A – 115 Verbal learning and memory in spinocerebellar ataxia type 12 (SCA12): Preliminary findings

    Nishka Mishra, K. Ramachandran, Bhaktee Dongaonkar et al.

    Archives of Clinical Neuropsychology

  2. CAG Repeat Instability and Region-Specific Gene Expression Changes in the SCA12 Brain

    Parthaje S, Janardhanan M, Paul P et al.

    Cerebellum

  3. Correlation of abnormal eye movements and functional neuroimaging in Spinocerebellar Ataxia Type 12 patients as compared to healthy control

    Pankaj Pankaj, Achal Kumar Srivastava, Priyanka Bhat et al.

    Proceedings on CD-ROM - International Society for Magnetic Resonance in Medicine. Scientific Meeting and Exhibition/Proceedings of the International Society for Magnetic Resonance in Medicine, Scientific Meeting and Exhibition

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

    Sandal P, Jong CJ, Merrill RA et al.

    Human molecular genetics

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

  5. Knockdown of PPP2R2B inhibits pancreatic cancer progression via the ERK/MAPK pathway by modulating EMT and apoptosis

    Han F, Chen Z, Ye C et al.

    Research Square

  6. Posterior Subthalamic Area Deep Brain Stimulation Combined with Spinal Cord Stimulation in a Patient with Spinocerebellar Ataxia Type 12

    Shen R, Zhou Z, Lin Z et al.

    Movement disorders clinical practice

    LetterFree full text of Posterior Subthalamic Area Deep Brain Stimulation Combined with Spinal Cord Stimulation in a Patient with Spinocerebellar Ataxia Type 12

  7. PPP2/PP2A-mediated dephosphorylation of LC3B links PINK1-PRKN/Parkin-mediated mitophagy to SCA12 pathogenesis

    Li N, Hou H, Su D et al.

    Autophagy

    Free full text of PPP2/PP2A-mediated dephosphorylation of LC3B links PINK1-PRKN/Parkin-mediated mitophagy to SCA12 pathogenesis

2024

16 papers
  1. Abnormal cortical excitability in patients with spinocerebellar ataxia type 12

    Bhattacharya A, Stezin A, Kamble N et al.

    Parkinsonism & related disorders

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

    Sun YM, Lang LQ, Zhou XY et al.

    Movement disorders clinical practice

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

  3. Careful Phenotypic Characterization of Tremor Phenomenology in a Patient with Spinocerebellar Ataxia Type 12-Tremor Features Do Not Match Those of Essential Tremor

    Luo W, Zheng X, Lin Z et al.

    Tremor and other hyperkinetic movements

    Case reportFree full text of Careful Phenotypic Characterization of Tremor Phenomenology in a Patient with Spinocerebellar Ataxia Type 12-Tremor Features Do Not Match Those of Essential Tremor

  4. Comprehensive analysis of mitochondria-related genes indicates that PPP2R2B is a novel biomarker and promotes the progression of bladder cancer via Wnt signaling pathway

    Shen D, Kang S

    Biology direct

    Free full text of Comprehensive analysis of mitochondria-related genes indicates that PPP2R2B is a novel biomarker and promotes the progression of bladder cancer via Wnt signaling pathway

  5. Correction: Comprehensive analysis of mitochondria-related genes indicates that PPP2R2B is a novel biomarker and promotes the progression of bladder cancer via Wnt signaling pathway

    Shen D, Kang S

    Biology direct

    Free full text of Correction: Comprehensive analysis of mitochondria-related genes indicates that PPP2R2B is a novel biomarker and promotes the progression of bladder cancer via Wnt signaling pathway

  6. Generation of a human induced pluripotent stem cell line JHUi004-A with heterozygous mutation for spinocerebellar ataxia type 12 using genome editing

    Liu HB, Dong T, Deng L et al.

    Stem cell research

    Free full text of Generation of a human induced pluripotent stem cell line JHUi004-A with heterozygous mutation for spinocerebellar ataxia type 12 using genome editing

  7. Generation of an Induced pluripotent stem cell (iPSC) line (IGIBi011-A) from a Spinocerebellar ataxia type 12 gait dominant patient

    Zahra S, Kapoor H, Ahmad I et al.

    Stem cell research

  8. Integration of graph network with kernel SVM and logistic regression for identification of biomarkers in SCA12 and its diagnosis

    Agrawal S, Agrawal RK, Kumaran SS et al.

    Cerebral cortex

  9. Molecular clues unveiling spinocerebellar ataxia type-12 pathogenesis

    Kumar M, Sahni S, A V et al.

    iScience

    Free full text of Molecular clues unveiling spinocerebellar ataxia type-12 pathogenesis

  10. Non-motor symptoms in patients with Spinocerebellar ataxia type 12

    Basu P, Choudhury S, Mondal SS et al.

    Frontiers in neurology

    Free full text of Non-motor symptoms in patients with Spinocerebellar ataxia type 12

  11. Nuclear translocation of ISG15 regulated by PPP2R2B inhibits cisplatin resistance of bladder cancer

    Huang G, Liu J, Yu A et al.

    Cellular and molecular life sciences

    Free full text of Nuclear translocation of ISG15 regulated by PPP2R2B inhibits cisplatin resistance of bladder cancer

  12. PPP2R2B Variant Reduces Protein Phosphatase 2A (PP2A) Complexity and Worsens Diabetic Kidney Disease (DKD) Progression

    Zhengying Fang, Zeguo Sun, Kyung Lee et al.

    Journal of the American Society of Nephrology

  13. Role of Bβ1 overexpression in the pathogenesis of SCA12

    Zhou C, Tang F, Dong T et al.

    Movement disorders

    Free full text of Role of Bβ1 overexpression in the pathogenesis of SCA12

  14. Spinocerebellar Ataxia Type 12 classification through Structural MRI: Insights from Regional Brain Volume and Cortical Thickness Analysis

    Dhruv Chandra Lohani, Bharti Rana, S Senthil Kumaran et al.

  15. The Role of PPP2R2B in Pancreatic Cancer Progression: A Novel Pro-Cancer Factor

    Fangfang Han, Zhou Chen, Cheng Ye et al.

    Research Square

  16. Tongue Protrusion and Feeding Dystonia Can Develop in PPP2R2B ‐Related Spinocerebellar Ataxia

    Neo S, Magrinelli F, Cordivari C et al.

    Movement disorders clinical practice

    Case reportFree full text of Tongue Protrusion and Feeding Dystonia Can Develop in PPP2R2B ‐Related Spinocerebellar Ataxia

2023

8 papers
  1. Are there spinocerebellar ataxia type − 12 (SCA12) subtypes?

    Achal Kumar Srivastava, Manpreet Kaur Narang, Roopa Rajan et al.

    Journal of the Neurological Sciences

  2. Bidirectional Transcription at the PPP2R2B Gene Locus in Spinocerebellar Ataxia Type 12

    Zhou C, Liu HB, Jahanbakhsh F et al.

    Movement disorders

    Free full text of Bidirectional Transcription at the PPP2R2B Gene Locus in Spinocerebellar Ataxia Type 12

  3. Evaluating Pp2a B Subunits Ppp2r2b, Ppp2r2c, Ppp2r3a, and Ppp2r5d Cytokine Expression in Human Bronchiole Small Airway Epithelial Cells Smoke Damage Models

    Osato Ukponmwan, Abdoulaye Dabo, Robert Foronjy et al.

  4. Fusion of 3D feature extraction techniques to enhance classification of spinocerebellar ataxia type 12

    Snigdha Agrawal, R. K. Agrawal, S Senthil Kumaran et al.

    International Journal of Information Technology

  5. HOXC6 drives a therapeutically targetable pancreatic cancer growth and metastasis pathway by regulating MSK1 and PPP2R2B

    Malvi P, Chava S, Cai G et al.

    Cell reports. Medicine

    Free full text of HOXC6 drives a therapeutically targetable pancreatic cancer growth and metastasis pathway by regulating MSK1 and PPP2R2B

  6. Length-dependent RNA foci formation and RAN translation are associated with SCA12 disorder

    Kumar M, Sahni S, Anand V et al.

    bioRxiv

  7. PSP ‐Like Phenotype in Genetically Confirmed SCA12

    Chatterpal P, Radhakrishnan DM, Garg A et al.

    Movement disorders clinical practice

    Free full text of PSP ‐Like Phenotype in Genetically Confirmed SCA12

  8. T45. GENETIC STRUCTURE OF PPP2R2B LOCUS IN SCA12 PATIENTS FROM INDIA

    Meera Purushottam, Pradip Paul, Meghana Janardhanan et al.

    European Neuropsychopharmacology

2022

7 papers
  1. Clinical and Preclinical Neuroimaging Changes in Spinocerebellar Ataxia Type 12: A Study of Three Chinese Pedigrees

    Yao T, Qiao H, Sun J et al.

    European neurology

  2. Clinical, Radiological, and Genetic Profile of Spinocerebellar Ataxia 12: A Hospital-Based Cohort Analysis

    Ganaraja VH, Holla VV, Stezin A et al.

    Tremor and other hyperkinetic movements

    Case reportFree full text of Clinical, Radiological, and Genetic Profile of Spinocerebellar Ataxia 12: A Hospital-Based Cohort Analysis

  3. Magnetic Resonance Imaging-Guided Focused Ultrasound Thalamotomy in Spinocerebellar Ataxia Type 12

    Purrer V, Upadhyay N, Pieper CC et al.

    Movement disorders

    Letter

  4. Spinocerebellar Ataxia 12 Patients have better Quality of Life than Spinocerebellar Ataxia 1 and 2

    Dabla S, Garg D, Aggarwal R et al.

    Annals of Indian Academy of Neurology

    Free full text of Spinocerebellar Ataxia 12 Patients have better Quality of Life than Spinocerebellar Ataxia 1 and 2

  5. Study of 2D Feature Extraction Techniques for Classification of Spinocerebellar Ataxia Type 12 (SCA12)

    Agrawal S, Kumaran SS, Srivastava AK et al.

    Studies in health technology and informatics

    Book chapter

  6. TBX1 functions as a tumor suppressor in colorectal cancer by PPP2R2B-mediated the inhibition of MAPK/ERK and PI3K/AKT signaling pathways

    Zhao M, Zhao Y, Xie JY et al.

    Research Square

  7. Tremor in Spinocerebellar Ataxia 12 (SCA12): Clinical and Electrophysiological Perspective (P18-11.002)

    Achal Kumar Srivastava, Manpreet Kaur Narang, Roopa Rajan et al.

    Neurology

2021

12 papers
  1. A longitudinal quantitative analysis of gait in patients with SCA-12

    Siddique U, Choudhury S, Chatterjee K et al.

    Clinical parkinsonism & related disorders

    Free full text of A longitudinal quantitative analysis of gait in patients with SCA-12

  2. Associations between polymorphisms of SLC22A7, NGFR, ARNTL and PPP2R2B genes and Milk production traits in Chinese Holstein

    Jia R, Fu Y, Xu L et al.

    BMC genomic data

    Free full text of Associations between polymorphisms of SLC22A7, NGFR, ARNTL and PPP2R2B genes and Milk production traits in Chinese Holstein

  3. Asymmetry of Tremor in Spinocerebellar Ataxia 12- Exception or Rule?

    Bhansali S, Choudhury S, Siddique U et al.

    Movement disorders clinical practice

    Free full text of Asymmetry of Tremor in Spinocerebellar Ataxia 12- Exception or Rule?

  4. Cognitive impairment in spinocerebellar ataxia type 12

    Agarwal A, Kaur H, Agarwal A et al.

    Parkinsonism & related disorders

  5. Commentary: Monochorea of the Upper Limb in a Patient with Spinocerebellar Ataxia Type 12

    Lang AE, Bhattad S, Rawat CS et al.

    Movement disorders clinical practice

    EditorialFree full text of Commentary: Monochorea of the Upper Limb in a Patient with Spinocerebellar Ataxia Type 12

  6. Dentato-rubro-thalamic tract (DRTT) dysfunction in the emergence of tremor in spinocerebellar ataxia type −12 (SCA-12)

    Achal Kumar Srivastava, Manpreet Kaur Narang, S Senthil Kumaran et al.

    Journal of the Neurological Sciences

  7. Generation of a human induced pluripotent stem cell line JHUi003-A with homozygous mutation for spinocerebellar ataxia type 12 using genome editing

    Feng H, Li Q, Margolis RL et al.

    Stem cell research

  8. Impact of SARS-CoV-2 Infection in Spinocerebellar Ataxia 12 Patients

    Singh I, Swarup V, Shakya S et al.

    Movement disorders

    LetterFree full text of Impact of SARS-CoV-2 Infection in Spinocerebellar Ataxia 12 Patients

  9. Monochorea of the Upper Limb in a Patient with Spinocerebellar Ataxia Type 12

    Bhattad S, Rawat CS, Pandey S

    Movement disorders clinical practice

    Case reportFree full text of Monochorea of the Upper Limb in a Patient with Spinocerebellar Ataxia Type 12

  10. Movement Disorders P-MD001. Evaluation of gait in spinocerebellar ataxia type 12 (SCA-12)

    Achal Kumar Srivastava, Manpreet Kaur Narang, Rajeev Aggarwal et al.

    Clinical Neurophysiology

  11. PPP2R2B downregulation is associated with immune evasion and predicts poor clinical outcomes in triple-negative breast cancer

    Li Z, Li Y, Wang X et al.

    Cancer cell international

    Free full text of PPP2R2B downregulation is associated with immune evasion and predicts poor clinical outcomes in triple-negative breast cancer

  12. Spinocerebellar Ataxia Type 12 with an Atypical Ethnicity: A Report of 2 Families

    Holla VV, Prasad S, Kamble N et al.

    Annals of Indian Academy of Neurology

    Free full text of Spinocerebellar Ataxia Type 12 with an Atypical Ethnicity: A Report of 2 Families

2020

2 papers
  1. Exploring motor response inhibition in spino- cerebellar ataxia 12

    Ummatul Siddique, Simin Rahman, Supriyo Choudhury et al.

    Parkinsonism & Related Disorders

  2. Variants in PPP2R2B and IGF2BP3 are associated with higher tau deposition

    Ramanan VK, Wang X, Przybelski SA et al.

    Brain communications

    Free full text of Variants in PPP2R2B and IGF2BP3 are associated with higher tau deposition

2019

4 papers
  1. Abnormal DaTSCAN and Atypical Parkinsonism in SCA12

    Latorre A, Del Gamba C, Menozzi E et al.

    Movement disorders clinical practice

    Case reportFree full text of Abnormal DaTSCAN and Atypical Parkinsonism in SCA12

  2. PPP2R2B hypermethylation causes acquired apoptosis deficiency in systemic autoimmune diseases

    Madera-Salcedo IK, Sánchez-Hernández BE, Svyryd Y et al.

    JCI insight

    Free full text of PPP2R2B hypermethylation causes acquired apoptosis deficiency in systemic autoimmune diseases

  3. Spasmodic dysphonia as a presenting symptom of spinocerebellar ataxia type 12

    Rossi J, Cavallieri F, Giovannini G et al.

    Neurogenetics

    Case report

  4. Spinocerebellar ataxia type 12: An update

    Achal K. Srivastava, Deepak Kumar, Mohammad Faruq et al.

    Annals of Movement Disorders

2018

4 papers
  1. Clinical Characterization of Genetically Diagnosed Cases of Spinocerebellar Ataxia Type 12 from India

    Choudhury S, Chatterjee S, Chatterjee K et al.

    Movement disorders clinical practice

    Free full text of Clinical Characterization of Genetically Diagnosed Cases of Spinocerebellar Ataxia Type 12 from India

  2. Frequency of SCA8, SCA10, SCA12, SCA36, FXTAS and C9orf72 repeat expansions in SCA patients negative for the most common SCA subtypes

    Aydin G, Dekomien G, Hoffjan S et al.

    BMC neurology

    Free full text of Frequency of SCA8, SCA10, SCA12, SCA36, FXTAS and C9orf72 repeat expansions in SCA patients negative for the most common SCA subtypes

  3. Generation of three spinocerebellar ataxia type-12 patients derived induced pluripotent stem cell lines (IGIBi002-A, IGIBi003-A and IGIBi004-A)

    Kumar D, Hussain A, Srivastava AK et al.

    Stem cell research

  4. Tremor in spinocerebellar ataxia type12 (SCA-12) mimics essential tremor (ET)

    Manpreet Kaur Narang, Anupam Srivastava, Roopa Rajan et al.

    Parkinsonism & Related Disorders

2017

3 papers
  1. Clinical behaviour of spinocerebellar ataxia type 12 and intermediate length abnormal CAG repeats in PPP2R2B

    Srivastava AK, Takkar A, Garg A et al.

    Brain

  2. Dystonic Tremor and Progressive Ataxia: SCA12

    Christos Ganos, Kailash P. Bhatia

    Cambridge University Press eBooks

    Book chapter

  3. Transcriptomic Dynamics of a non-coding trinucleotide repeat expansion disorder SCA12 in iPSC derived neuronal cells: signatures of interferon induced response

    Kumar D, Dhapola P, Hussain A et al.

    bioRxiv

2016

4 papers
  1. Exploration of CAG triplet repeat in nontranslated region of SCA12 gene

    Lone WG, Khan IA, Poornima S et al.

    Journal of genetics

  2. Huntington's disease-like presentation in Spinocerebellar ataxia type 12

    Groppo E, Armaroli A, Selvatici R et al.

    Movement disorders

    Case report

  3. Spinocerebellar ataxia type 12: clues to pathogenesis

    Cohen RL, Margolis RL

    Current opinion in neurology

    Review

  4. Wnt pathway antagonists, SFRP1, SFRP2, SOX17, and PPP2R2B, are methylated in gliomas and SFRP1 methylation predicts shorter survival

    Majchrzak-Celińska A, Słocińska M, Barciszewska AM et al.

    Journal of applied genetics

    Free full text of Wnt pathway antagonists, SFRP1, SFRP2, SOX17, and PPP2R2B, are methylated in gliomas and SFRP1 methylation predicts shorter survival

2015

3 papers
  1. Analysis of SCA8, SCA10, SCA12, SCA17 and SCA19 in patients with unknown spinocerebellar ataxia: a Thai multicentre study

    Choubtum L, Witoonpanich P, Hanchaiphiboolkul S et al.

    BMC neurology

    Multicenter StudyFree full text of Analysis of SCA8, SCA10, SCA12, SCA17 and SCA19 in patients with unknown spinocerebellar ataxia: a Thai multicentre study

  2. Identification of 46 CAG repeats within PPP2R2B as probably the shortest pathogenic allele for SCA12

    Dong Y, Wu JJ, Wu ZY

    Parkinsonism & related disorders

  3. Unusual cerebral white matter change in a Chinese family with Spinocerebellar ataxia type 12

    Hu T, Zhao B, Wei QQ et al.

    Journal of the neurological sciences

    Case report

2014

4 papers
  1. Diffusion tensor imaging of spinocerebellar ataxia type 12

    Li H, Ma J, Zhang X

    Medical science monitor

    Free full text of Diffusion tensor imaging of spinocerebellar ataxia type 12

  2. Dystonic Tremor and Spasmodic Dysphonia in Spinocerebellar Ataxia Type 12

    Ganos C, Saifee TA, Kassavetis P et al.

    Movement disorders clinical practice

    Case reportFree full text of Dystonic Tremor and Spasmodic Dysphonia in Spinocerebellar Ataxia Type 12

  3. Identification of FXTAS presenting with SCA 12 like phenotype in India

    Faruq M, Srivastava AK, Suroliya V et al.

    Parkinsonism & related disorders

  4. Tremor in Spinocerebellar Ataxia Type 12

    Kalia LV, Rockman-Greenberg C, Borys A et al.

    Movement disorders clinical practice

    Case reportFree full text of Tremor in Spinocerebellar Ataxia Type 12

2013

1 paper
  1. Differential autophagic cell death under stress with ectopic cytoplasmic and mitochondrial-specific PPP2R2B in human neuroblastoma cells

    Fang K, Li HF, Hsieh CH et al.

    Apoptosis

2012

8 papers
  1. Identification and quantification of differentially expressed proteins in plasma of spinocerebellar ataxia type 12

    Swarup V, Srivastava AK, Rajeswari MR

    Neuroscience research

  2. MRI Features of Spinocerebellar Ataxia Type 12 from Uygur Nationality Patients and Analysis of Related Factors

    Xiaoning Zhang

    Chinese Computed Medical Imaging

  3. Spinocerebellar ataxia type 12

    Susan E. Holmes, Elizabeth O’Hearn, Natividad Cortez-Apreza et al.

    Handbook of clinical neurology

    Review

  4. Spinocerebellar Ataxia Type 12 (SCA 12): Clinical Features and Pathogenetic Mechanisms

    Allan Ronald, Marissa A Andrew, Stefan Strack

    InTech eBooks

    Book chapter

  5. Studies on Clinical Characteristics of SCA12 in 6 Uygur Nationality Patients

    Jing Lei

    Zhongguo quanke yixue

  6. Study on cognitive impairment in patients with spinocerebellar ataxia type 12

    Jing Lei

    Journal of Clinical Neurology

  7. 非翻訳リピート異常伸長による脊髄小脳失調症 : SCA8,SCA10,SCA12,SCA36 (特集 脊髄小脳変性症(SCD)のUp-To-Date) -- (常染色体優性遺伝性SCD)

    徹 松浦, 佳生 池田, 康二 阿部

    最新医学

  8. 非翻訳リピート異常伸長による脊髄小脳失調症（SCA8，SCA10，SCA12，SCA36）

    松浦 徹, ほか

    最新医学

2011

5 papers
  1. [Gene mutation and clinical characteristics of a Chinese Uygur family with spinocerebellar ataxia type 12]

    LI HT, LEI J, MA JH et al.

    Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

  2. A genetic variant in a PP2A regulatory subunit encoded by the PPP2R2B gene associates with altered breast cancer risk and recurrence

    Vazquez A, Kulkarni D, Grochola LF et al.

    International journal of cancer

    Free full text of A genetic variant in a PP2A regulatory subunit encoded by the PPP2R2B gene associates with altered breast cancer risk and recurrence

  3. Association between CAG repeat length in the PPP2R2B gene and Alzheimer disease in the Japanese population

    Kimura R, Morihara T, Kudo T et al.

    Neuroscience letters

  4. Identificação de repetições nucleotídicas CAG nos genes causadores de SCA12, SCA17 e DRPLA

    Gabriel Vasata Furtado, Tailise Conte Gheno, Laura Bannach Jardim et al.

    Lume

  5. Mitochondrial dysfunction and oxidative stress contribute to the pathogenesis of spinocerebellar ataxia type 12 (SCA12)

    Wang YC, Lee CM, Lee LC et al.

    The Journal of biological chemistry

    Free full text of Mitochondrial dysfunction and oxidative stress contribute to the pathogenesis of spinocerebellar ataxia type 12 (SCA12)

2010

8 papers
  1. Ataxia telangiectasia mutated nuclear localization in head and neck cancer cells is PPP2R2B-dependent

    Chotika Suyarnsestakorn, Thatchawan Thanasupawat, Kantima Leelahavanichkul et al.

    Asian Biomedicine

  2. Frequent aberrant DNA methylation of ABCB1, FOXC1, PPP2R2B and PTEN in ductal carcinoma in situ and early invasive breast cancer

    Muggerud AA, Rønneberg JA, Wärnberg F et al.

    Breast cancer research

    Free full text of Frequent aberrant DNA methylation of ABCB1, FOXC1, PPP2R2B and PTEN in ductal carcinoma in situ and early invasive breast cancer

  3. Mammalian target of rapamycin (mTOR; FRAP; RAFT1); protein phosphatase 2 regulatory subunit Bβ (PPP2R2B); 3-phosphoinositide–dependent protein kinase-1 (PDPK1; PDK1); c-Myc

    Science-Business eXchange

  4. Mapping of autosomal dominant cerebellar ataxia without the pathogenic PPP2R2B mutation to the locus for spinocerebellar ataxia 12

    Sato K, Yabe I, Fukuda Y et al.

    Archives of neurology

  5. PPP2R2B基因：啟動子記述及Bβ1/Bβ2 isoform在神經退化的角色

    林志信

  6. SCA12

    Deborah A. Hall, E. O’Hearn

    Elsevier eBooks

  7. Spinocerebellar ataxia type 12 identified in two Italian families may mimic sporadic ataxia

    Brussino A, Graziano C, Giobbe D et al.

    Movement disorders

  8. The CAG repeat in SCA12 functions as a cis element to up-regulate PPP2R2B expression

    Lin CH, Chen CM, Hou YT et al.

    Human genetics

2009

6 papers
  1. Oxidative stress promotes autophagic cell death in human neuroblastoma cells with ectopic transfer of mitochondrial PPP2R2B (Bbeta2)

    Cheng WT, Guo ZX, Lin CA et al.

    BMC cell biology

    Free full text of Oxidative stress promotes autophagic cell death in human neuroblastoma cells with ectopic transfer of mitochondrial PPP2R2B (Bbeta2)

  2. PPP2R2B CAG repeat length in the Han Chinese in Taiwan: Association analyses in neurological and psychiatric disorders and potential functional implications

    Chen CM, Hou YT, Liu JY et al.

    American journal of medical genetics. Part B, Neuropsychiatric genetics

  3. Spinocerebellar ataxia type 12 identified in two Italian families

    Alessandro Brussino, Claudio Graziano, Dario Giobbe et al.

  4. The role of protein phosphatase 2a subunit ppp2r2b in atm nuclear localyzation in head and neck squamous cells carcinoma

    Chotika Suyarnsestakorn, Apiwat Mutirangura

  5. Utilizing linkage disequilibrium information from Indian Genome Variation Database for mapping mutations: SCA12 case study

    Bahl S, Ahmed I, Indian Genome Variation Consortium et al.

    Journal of genetics

  6. 環境壓力對人類神經細胞過度表現Protein Phosphatase 2A次單位PPP2R2B的影響

    鄭琬婷

2008

3 papers
  1. Spinocerebellar ataxia type 12 was not found in Korean Parkinsonian patients

    Cho JW, Kim SY, Park SS et al.

    The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques

  2. The spinocerebellar ataxia 12 gene product and protein phosphatase 2A regulatory subunit Bbeta2 antagonizes neuronal survival by promoting mitochondrial fission

    Dagda RK, Merrill RA, Cribbs JT et al.

    The Journal of biological chemistry

    Free full text of The spinocerebellar ataxia 12 gene product and protein phosphatase 2A regulatory subunit Bbeta2 antagonizes neuronal survival by promoting mitochondrial fission

  3. 湖南汉族人群PPP2R2B基因三核苷酸重复突变

    王俊岭, 江泓, 张申 et al.

    Chin J Neurol

2007

2 papers
  1. Spinocerebellar Ataxia Type 12 and Huntington’s Disease-Like 2: Clues to Pathogenesis

    Russell L. Margolis, Susan E. Holmes, Elizabeth O’Hearn et al.

    Nucleic acids and molecular biology

    Book chapter

  2. 建?和分析過?表現PPP2R2B 基因Bβ1之細胞與基因轉殖小鼠

    高郁涵

2006

2 papers
  1. [P102]: The functional role of the PPP2R2B gene, CAG repeat polymorphism and its implication in the genetic susceptibility to Taiwanese Alzheimer's disease

    Chih‐Hsin Lin, Yi Hou, C.M. Chen et al.

    International Journal of Developmental Neuroscience

  2. [P205]: Dissecting the function of PPP2R2B in neurogenesis and its implication in neurodegenerative diseases

    M. Su, Po-An Yeh

    International Journal of Developmental Neuroscience

2005

2 papers
  1. Evidence of a common founder for SCA12 in the Indian population

    Bahl S, Virdi K, Mittal U et al.

    Annals of human genetics

  2. Mapping of the PPP2R2B gene to canine chromosome 2q4.3 by fluorescence in situ hybridization and confirmation by radiation hybrid mapping

    Kuiper H, Drögemüller C, Guyon R et al.

    Animal genetics

    Comparative Study

2004

4 papers
  1. Coincidence of a large SCA12 repeat allele with a case of Creutzfeld-Jacob disease

    Hellenbroich Y, Schulz-Schaeffer W, Nitschke MF et al.

    Journal of neurology, neurosurgery, and psychiatry

    Case reportFree full text of Coincidence of a large SCA12 repeat allele with a case of Creutzfeld-Jacob disease

  2. Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay

    Cagnoli C, Michielotto C, Matsuura T et al.

    The Journal of molecular diagnostics

    Comparative StudyFree full text of Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay

  3. Molecular Genetic Diagnosis and Clinical Analysis on Spinocerebellar Ataxia Type 12

    Xie Qiu

    Journal of Sun Yat-sen University

  4. Polymorphism of trinucleotide repeats in non-translated regions of SCA8 and SCA12 genes: allele distribution in a Polish control group

    Sułek A, Hoffman-Zacharska D, Bednarska-Makaruk M et al.

    Journal of applied genetics

2003

3 papers
  1. CAG repeat polymorphisms in KCNN3 (HSKCa3) and PPP2R2B show no association or linkage to schizophrenia

    Laurent C, Niehaus D, Bauché S et al.

    American journal of medical genetics. Part B, Neuropsychiatric genetics

  2. Spinocerebellar Ataxia 12 (SCA12)

    Susan E. Holmes, Elizabeth O’Hearn, Samir K. Brahmachari et al.

    Elsevier eBooks

    Book chapter

  3. Why is SCA12 different from other SCAs?

    Holmes SE, O'Hearn E, Margolis RL

    Cytogenetic and genome research

    Review

2002

2 papers
  1. Analysis of SCA8 and SCA12 loci in 134 Italian ataxic patients negative for SCA1-3, 6 and 7 CAG expansions

    Brusco A, Cagnoli C, Franco A et al.

    Journal of neurology

  2. Familial essential tremor is not associated with SCA-12 mutation in southern Italy

    Nicoletti G, Annesi G, Carrideo S et al.

    Movement disorders

2001

6 papers
  1. Molecular and clinical correlation in five Indian families with spinocerebellar ataxia 12

    Srivastava AK, Choudhry S, Gopinath MS et al.

    Annals of neurology

  2. SCA-12: Tremor with cerebellar and cortical atrophy is associated with a CAG repeat expansion

    O'Hearn E, Holmes SE, Calvert PC et al.

    Neurology

  3. SCA12 is a rare locus for autosomal dominant cerebellar ataxia: a study of an Indian family

    Fujigasaki H, Verma IC, Camuzat A et al.

    Annals of neurology

  4. SCA12: an unusual mutation leads to an unusual spinocerebellar ataxia

    Holmes SE, Hearn EO, Ross CA et al.

    Brain research bulletin

    Review

  5. Spinocerebellar ataxia type 12 is rare in the United Kingdom

    Worth PF, Wood NW

    Neurology

  6. The SCA12 mutation as a rare cause of spinocerebellar ataxia

    Cholfin JA, Sobrido MJ, Perlman S et al.

    Archives of neurology

1999

1 paper
  1. Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12

    Holmes SE, O'Hearn EE, McInnis MG et al.

    Nature genetics

    Letter

Undated

1 paper
  1. Spinocerebellar Ataxia Type 12 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY

    Margolis RL, Holmes SE, Srivastava AK et al.

    GeneReviews(®)

    Review

Wider reading

Related papers

The same search returns 282 further papers whose titles name neither SCA12 nor PPP2R2B — the gene in other diseases, or SCA12 mentioned in passing in a list of ataxias. They are kept, on their own page, for completeness.

See the 282 related papers

Who works on this

Researchers active in SCA12

SCA12 is studied by a small number of groups worldwide, with a significant share of the clinical literature coming from centres in India.

Dr. Achal Kumar Srivastava

Neurologist

All India Institute of Medical Sciences (AIIMS), New Delhi

Clinical neurology and movement disorders, including the presentation and long-term course of hereditary ataxias.

Dr. Mohammed Faruq

Genetics researcher

CSIR–Institute of Genomics and Integrative Biology (CSIR-IGIB), New Delhi

Genomics of inherited neurological conditions, including repeat-expansion ataxias such as SCA12.

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