ORPHA:100998
Autosomal dominant spastic paraplegia type 17
Also known as: SPG17 · Silver syndrome · Spastic paraplegia-amyotrophy of hands and feet
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
1,060
Trials
0
Interventional, condition-specific
Researchers
1,190
Distinct authors in sample
Gene link
BSCL2
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A complex spastic paraplegia characterized by spastic paraplegia, upper and lower limb muscle atrophy, hyperreflexia, extensor plantar responses, pes cavus and occasionally impaired vibration sense. Association with hand muscles amyotrophy typical.
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:0010043
- MeSH:C536644
- OMIM:270685
- UMLS:C2931276
Additional Mondo synonyms (7)
BSCL2 hereditary spastic paraplegia · Silver spastic paraplegia syndrome · autosomal dominant spastic paraplegia type 17 · hereditary spastic paraplegia caused by mutation in BSCL2 · hereditary spastic paraplegia type 17 · spastic paraplegia with amyotrophy of hands and feet · spastic paraplegia-amyotrophy of hands and feet
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
Strong — BSCL2
- LiteraturePresent
1,060 matched papers (468 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?
Yes — we know a specific gene responsible (BSCL2).
GenCC classification: Strong.
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?
1,060
1,060 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=5449) is 41.
1,060 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).
468 in the last 10 years · low confidence
Phrase hits: 1,060 · MeSH hits: 0
Who's working on it?
1,190
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.
- 01Wang Y7 papers · 2026
Department of Clinical Laboratory, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, 250021, China.
Papers in Europe PMC - 02Ito D5 papers · 2018
Department of Neurology, School of Medicine, Keio University.
Papers in Europe PMC - 03Crosby AH4 papers · 2021
Medical Research (Level 4), RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK.
Papers in Europe PMC - 04Dierick I4 papers · 2010Papers in Europe PMC
- 05Houlden H4 papers · 2026
From the MRC Centre for Neuromuscular Diseases (A.H., P.J.T., M.L., M.G.H., J.C.B., H.H., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Department of Human Genetics and Hussman Institute for Human Genomics (M.A.G., S.Z.), Miller School of Medicine, University of Miami; The Genesis Project Foundation (M.A.G.), Miami, FL; The Dubowitz Neuromuscular Centre (F.M., A.Y.M.), UCL Institute of Child Health, London; and Department of Clinical Neurophysiology (J.C.B.), Norfolk and Norwich University Hospital, Norwich, UK.
Papers in Europe PMC - 06Liu Y4 papers · 2026
Department of Gynecology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Papers in Europe PMC - 07Suzuki N4 papers · 2018
Department of Neurology, Keio University School of Medicine, Japan.
Papers in Europe PMC - 08Timmerman V4 papers · 2010Papers in Europe PMC
- 09Zhang Y4 papers · 2026
Department of Endocrinology and Metabolism, West China Hospital of Sichuan University, Chengdu 610041, China.
Papers in Europe PMC - 10De Jonghe P3 papers · 2010Papers 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.
low 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 2026-07-26Likely covered — the policy lists Spinal muscular atrophy as a category (Group 3), and this condition is a form of it. Confirm eligibility with a Centre of Excellence.
Group 3 — high-cost / lifelong therapy with careful selection
Up to ₹50 lakh per patient
Financial support at notified Centres of Excellence is the figure commonly cited in recent MoHFW/PIB statements. Many Group 3 patients also use the MoHFW voluntary-contribution / crowdfunding portal.
Eligibility and patient selection rules change. Verify with a CoE; the crowdfunding portal is a separate mechanism from CoE funding. Verify
Centres of Excellence (15)
- All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
- Maulana Azad Medical College — New Delhi, Delhi
- Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
- Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
- Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
- King Edward Memorial Hospital — Mumbai, Maharashtra
- Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
- Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
- Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
- All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
- Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
- All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
- Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
- All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
- Assam Medical College & Hospital — Dibrugarh, Assam
Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/
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 17" OR "SPG17" OR "Silver syndrome" OR "Spastic paraplegia-amyotrophy of hands and feet" OR "Spastic paraplegia-amyotrophy of the hands and feet" OR "BSCL2 hereditary spastic paraplegia" OR "Silver spastic paraplegia syndrome" OR "hereditary spastic paraplegia caused by mutation in BSCL2" OR "hereditary spastic paraplegia type 17" OR "spastic paraplegia with amyotrophy of hands and feet" OR "spastic paraplegia with amyotrophy of the hands and feet"
MeSH descriptor terms unioned into the query: Spastic paraplegia 17
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal dominant spastic paraplegia type 17" OR "SPG17" OR "Silver syndrome" OR "Spastic paraplegia-amyotrophy of hands and feet" OR "Spastic paraplegia-amyotrophy of the hands and feet" OR "BSCL2 hereditary spastic paraplegia" OR "Silver spastic paraplegia syndrome" OR "hereditary spastic paraplegia caused by mutation in BSCL2" OR "hereditary spastic paraplegia type 17" OR "spastic paraplegia with amyotrophy of hands and feet" OR "spastic paraplegia with amyotrophy of the hands and feet" OR "Spastic paraplegia 17" OR "BSCL2" OR "autosomal dominant complex spastic paraplegia" OR "neuronopathy, distal hereditary motor, autosomal dominant" OR "complex hereditary spastic paraplegia"
Recall-expansion terms: BSCL2, autosomal dominant complex spastic paraplegia, neuronopathy, distal hereditary motor, autosomal dominant, complex hereditary spastic paraplegia
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
- Publication count (1060) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T07:10:28.320Z