ORPHA:1170
Autosomal recessive cerebelloparenchymal disorder type 3
Also known as: Autosomal recessive spinocerebellar ataxia type 2 · SCAR2
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.
Is anyone studying this?
255
255 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=183) is 38.
255 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
177 in the last 10 years · high confidence · 78.4th percentile (publications denominator)
Is a treatment being tested?
2
trials for this specific condition
2 interventional trials matched this specific condition name; 1 currently recruiting in our sample.
Data as of 26 July 2026
2 interventional trials — more than 59.2% of diseases in the trials denominator have none at all (151 of 255; this disease is at the 74.7th percentile).
high confidence · 74.7th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (PMPCA).
GenCC classification: Strong.
Who's working on it?
1,356
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Liu 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 - 02Szymanski DB6 papers · 2021
Department of Botany and Plant Pathology, Purdue University, West Lafayette, Indiana 47907, USA.
Papers in Europe PMC - 03Mallery EL5 papers · 2021
Department of Botany and Plant Pathology, Purdue University, West Lafayette, Indiana 47907, USA.
Papers in Europe PMC - 04Zhang 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 - 05Machesky LM4 papers · 2007Papers in Europe PMC
- 06Pavan 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 - 07Zhang 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 - 08Batista AA3 papers · 2018
Departamento de Química, Universidade Federal de São Carlos, São Carlos, São Paulo 13565-905, Brazil.
Papers in Europe PMC - 09Chorilli 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 - 10Kawashima T3 papers · 2025
Department of Plant and Soil Sciences, University of Kentucky, Lexington, KY, USA.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
2 interventional trials matched after quoted-phrase search and title/condition post-filter.
General rare disease registries you may be eligible for
These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This 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 below 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"
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" OR "PMPCA" OR "autosomal recessive congenital cerebellar ataxia" OR "autosomal recessive cerebellar ataxia"
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 2 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): MESH:C565865 OMIM:213200 UMLS:C1859298
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, recall-expansion
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