ORPHA:216873
Atypical pantothenate kinase-associated neurodegeneration
Also known as: NBIA1, atypical form · Neurodegeneration with brain iron accumulation type 1, atypical form · PKAN, atypical form
Clinical definition (Orphanet)
A rare neurodegenerative disorder characterized by adolescent to adult-onset of slowly dystonia, dysarthria, neuropsychiatric changes, parkinsonism and abnormal iron accumulation in the globus pallidus and substantia nigra with a characteristic eye-of-the-tiger sign on T2-weighted MRI. Atypical pantothenate kinase-associated neurodegeneration (PKAN) has later onset and slower progression than classic PKAN and accounts for about 25% of cases.
Is anyone studying this?
32
32 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.
32 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).
18 in the last 10 years · high confidence · 39.1th percentile (publications denominator)
Is a treatment being tested?
2
trials for this specific condition
2 interventional trials matched this specific condition name; none in our sample are currently recruiting. 4 trials are registered for pantothenate kinase-associated neurodegeneration, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 26 July 2026
4
trials for pantothenate kinase-associated neurodegeneration, the broader category this belongs to
Trials registered for a broader category may or may not enrol people with this specific subtype — eligibility criteria vary, and the trial record often doesn't say. Worth raising with a clinician. How we count trials.
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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Who's working on it?
199
Distinct author names in 32 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.
- 01Hopfner F2 papers · 2021
Department of Neurology, Hannover Medical School, Hannover, Germany.
Papers in Europe PMC - 02Kim YJ2 papers · 2016
Department of Neurology, Hallym University Sacred Heart Hospital, Anyang, Korea.
Papers in Europe PMC - 03Kuhlenbäumer G2 papers · 2021
Department of Neurology, Kiel University, Kiel, Germany.
Papers in Europe PMC - 04Lee PH2 papers · 2016
Department of Neurology, Yonsei University College of Medicine, Seoul, Korea.
Papers in Europe PMC - 05
- 06Salama M2 papers · 2021
Institute of Global Health and Human Ecology, American University in Cairo (AUC), Cairo, Egypt.
Papers in Europe PMC - 07Sung YH2 papers · 2016
Department of Neurology, Gachon University Gil Hospital, Incheon, Korea.
Papers in Europe PMC - 08Abada Bendib M1 paper · 2017
Department of neurology, university hospital of Ben Aknoun, Algiers, Algeria.
Papers in Europe PMC - 09Abdelrahman I1 paper · 2021Papers in Europe PMC
- 10Abdelrahman IY1 paper · 2021
Radiation Biology Department, National Center for Radiation Research and Technology, Egyptian Atomic Energy Authority, Cairo, Egypt.
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.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
Observational and natural-history studies
5 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
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.
"Atypical pantothenate kinase-associated neurodegeneration" OR "NBIA1, atypical form" OR "Neurodegeneration with brain iron accumulation type 1, atypical form" OR "PKAN, atypical form"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Atypical pantothenate kinase-associated neurodegeneration" OR "NBIA1, atypical form" OR "Neurodegeneration with brain iron accumulation type 1, atypical form" OR "PKAN, atypical form" OR "neurodegeneration with brain iron accumulation"
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 · 5 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): UMLS:C5568621
Query health: ok — strategies attempted: phrase, 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