ORPHA:171863
Autosomal dominant spastic paraplegia type 42
Also known as: SPG42
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
64
48.5th percentile
Trials
0
Interventional, condition-specific
Researchers
360
Distinct authors in sample
Gene link
SLC33A1
Limited
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A pure form of spastic paraplegia characterized by slowly spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0012928
- MeSH:C567262
- OMIM:612539
- UMLS:C2675528
Additional Mondo synonyms (4)
SLC33A1 autosomal dominant pure spastic paraplegia · autosomal dominant pure spastic paraplegia caused by mutation in SLC33A1 · autosomal dominant spastic paraplegia type 42 · hereditary spastic paraplegia type 42
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.”
2/6 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.
- Gene identifiedPresent
Limited — SLC33A1
- LiteraturePresent
64 matched papers (38 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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?
Possibly — only limited evidence so far for SLC33A1.
GenCC classification: Limited.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
64
64 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=5449) is 41.
64 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
38 in the last 10 years · high confidence · 48.5th percentile (publications denominator)
Phrase hits: 64 · MeSH hits: 0
Who's working on it?
360
Distinct author names in 64 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.
- 01Puglielli L7 papers · 2023
Department of Medicine, University of Wisconsin-Madison, Madison, WI 53705, USA.
Papers in Europe PMC - 02Stevanin G7 papers · 2021
Institut du Cerveau - Paris Brain Institute - ICM, Sorbonne Université, INSERM, CNRS, APHP, Paris, France.
Papers in Europe PMC - 03Gong Y5 papers · 2017
The Key Laboratory of Experimental Teratology, Ministry of Education and Department of Genetics, Shandong University School of Medicine, Jinan, Shandong 250012, China sunwenjie@sdu.edu.cn yxg8@sdu.edu.cn.
Papers in Europe PMC - 04Shao C5 papers · 2017
The Key Laboratory of Experimental Teratology, Ministry of Education and Department of Genetics, Shandong University School of Medicine, Jinan, Shandong 250012, China.
Papers in Europe PMC - 05Faccenda E4 papers · 2019
Centre for Discovery Brain Sciences, University of Edinburgh, Edinburgh, EH8 9XD, UK.
Papers in Europe PMC - 06Lin P4 papers · 2017
Key Laboratory for Experimental Teratology of the Ministry of Education and Institute of Medical Genetics, Shandong University School of Medicine, Shandong, China.
Papers in Europe PMC - 07Mao F4 papers · 2015
The Key Laboratory of Experimental Teratology, Ministry of Education and Department of Genetics, Shandong University School of Medicine, Jinan, Shandong, 250012, China.
Papers in Europe PMC - 08Pawson AJ4 papers · 2019
Centre for Discovery Brain Sciences, University of Edinburgh, Edinburgh, EH8 9XD, UK.
Papers in Europe PMC - 09Pehar M4 papers · 2014
Department of Medicine, University of Wisconsin, Madison, WI 53705, USA.
Papers in Europe PMC - 10Peters JA4 papers · 2019
Neuroscience Division, Medical Education Institute, Ninewells Hospital and Medical School, University of Dundee, Dundee, DD1 9SY, UK.
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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th 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.
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 on the overview but are not added to the query string.
"Autosomal dominant spastic paraplegia type 42" OR "SPG42" OR "SLC33A1 autosomal dominant pure spastic paraplegia" OR "autosomal dominant pure spastic paraplegia caused by mutation in SLC33A1" OR "hereditary spastic paraplegia type 42"
MeSH descriptor terms unioned into the query: Spastic Paraplegia 42, Autosomal Dominant
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal dominant spastic paraplegia type 42" OR "SPG42" OR "SLC33A1 autosomal dominant pure spastic paraplegia" OR "autosomal dominant pure spastic paraplegia caused by mutation in SLC33A1" OR "hereditary spastic paraplegia type 42" OR "Spastic Paraplegia 42, Autosomal Dominant" OR "SLC33A1"
Recall-expansion terms: SLC33A1
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; 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 2026-07-27T08:44:15.226Z