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ORPHA:1170

Autosomal recessive cerebelloparenchymal disorder type 3

high confidenceDisorder

Also known as: Autosomal recessive spinocerebellar ataxia type 2 · SCAR2

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

584

82th percentile

Trials

0

Interventional, condition-specific

Researchers

1,356

Distinct authors in sample

Gene link

PMPCA

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare cerebellar characterized by early onset of non- or slowly cerebellar signs and symptoms including truncal and gait , dysarthria, dysmetria, dysdiadochokinesis, tremor, and nystagmus. Delayed psychomotor development and are variable. Additional reported features are spasticity, , cataracts, and sensorineural hearing loss, among others. Brain imaging shows cerebellar atrophy.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (3)

PMPCA autosomal recessive congenital cerebellar ataxia · autosomal recessive congenital cerebellar ataxia caused by mutation in PMPCA · autosomal recessive spinocerebellar ataxia type 2

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

3/6 stages with a signal

No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Strong — PMPCA

  2. LiteraturePresent

    584 matched papers (441 in last 10 years) Source

  3. Phenotype characterisedPresent

    55 HPO annotations (e.g. Gaze-evoked nystagmus; Dysarthria; Brisk reflexes) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Yes — we know a specific gene responsible (PMPCA).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

55

Associated phenotypes · MONDO:0008943

  • Gaze-evoked nystagmus
  • Dysarthria
  • Brisk reflexes
  • Incoordination
  • Diffuse cerebral atrophy

Showing 5 of 55 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-27

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

584

584 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

584 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

441 in the last 10 years · high confidence · 82th percentile (publications denominator)

Phrase hits: 255 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,356

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Liu C6 papers · 2025

    Center for Molecular Imaging and Translational Medicine, State Key Laboratory of Molecular Vaccinology and Molecular Diagnostics, School of Public Health, Xiamen University, Xiamen 361102, China.

    Papers in Europe PMC
  2. 02
    Szymanski DB6 papers · 2021

    Department of Botany and Plant Pathology, Purdue University, West Lafayette, Indiana 47907, USA.

    Papers in Europe PMC
  3. 03
    Mallery EL5 papers · 2021

    Department of Botany and Plant Pathology, Purdue University, West Lafayette, Indiana 47907, USA.

    Papers in Europe PMC
  4. 04
    Zhang C5 papers · 2024

    State Key Laboratory of Crop Stress Resistance and High-Efficiency Production and College of Life Sciences, Northwest A&F University, 22 Xinong Rd, Yangling, Shaanxi, 712100, China.

    Papers in Europe PMC
  5. 05
    Machesky LM4 papers · 2007
    Papers in Europe PMC
  6. 06
    Pavan FR4 papers · 2024

    Department of Biological Sciences, College of Pharmacy, Univ Estadual Paulista, Araraquara, São Paulo, Brazil. fernandopavan@fcfar.unesp.br

    Papers in Europe PMC
  7. 07
    Zhang X4 papers · 2025

    Center for Molecular Imaging and Translational Medicine, State Key Laboratory of Molecular Vaccinology and Molecular Diagnostics, School of Public Health, Xiamen University, Xiamen 361102, China.

    Papers in Europe PMC
  8. 08
    Batista AA3 papers · 2018

    Departamento de Química, Universidade Federal de São Carlos, São Carlos, São Paulo 13565-905, Brazil.

    Papers in Europe PMC
  9. 09
    Chorilli M3 papers · 2024

    Departamento de Fármacos e Medicamentos, Faculdade de Ciências Farmacêuticas, Universidade Estadual Paulista, Araraquara, São Paulo 14801-902, Brazil.

    Papers in Europe PMC
  10. 10
    Kawashima T3 papers · 2025

    Department of Plant and Soil Sciences, University of Kentucky, Lexington, KY, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

Data as of 9 September 2026 · last trial check 9 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

high confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-27

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Autosomal recessive cerebelloparenchymal disorder type 3 — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

("Autosomal recessive cerebelloparenchymal disorder type 3" OR "Autosomal recessive spinocerebellar ataxia type 2" OR "SCAR2" OR "PMPCA autosomal recessive congenital cerebellar ataxia" OR "autosomal recessive congenital cerebellar ataxia caused by mutation in PMPCA") OR (MESH:"Spinocerebellar Ataxia, Autosomal Recessive 2") OR ("PMPCA" OR "PMPCA syndrome" OR "PMPCA-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Spinocerebellar Ataxia, Autosomal Recessive 2

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Autosomal recessive cerebelloparenchymal disorder type 3" OR "Autosomal recessive spinocerebellar ataxia type 2" OR "SCAR2" OR "PMPCA autosomal recessive congenital cerebellar ataxia" OR "autosomal recessive congenital cerebellar ataxia caused by mutation in PMPCA" OR "Spinocerebellar Ataxia, Autosomal Recessive 2"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T02:31:55.482Z