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Niemann-Pick disease type C
Vanier MT.. Orphanet journal of rare diseases, 2010-06-03
Topic: Brain proteins, microglia and lab models
Genotyping of patients is useful to confirm the diagnosis in the latter patients and essential for future prenatal diagnosis. The differential diagnosis may include other lipidoses; idiopathic neonatal hepatitis and other causes of cholestatic icterus should be considered in neonates, and conditions with cerebellar ataxia, dystonia, cataplexy and supranuclear gaze palsy in older children and adults. Symptomatic management of patients is crucial. A first product, miglustat, has been granted marketing authorization in Europe and several other countries for specific treatment of the neurological manifestations. The prognosis largely correlates with the age at onset of the neurological manifestations.
Key findings
- Genotyping of patients is useful to confirm the diagnosis in the latter patients and essential for future prenatal diagnosis.
- The differential diagnosis may include other lipidoses; idiopathic neonatal hepatitis and other causes of cholestatic icterus should be considered in neonates, and conditions with cerebellar ataxia, dystonia, cataplexy and supranuclear gaze palsy in older children and adults.
- Symptomatic management of patients is crucial.
- A first product, miglustat, has been granted marketing authorization in Europe and several other countries for specific treatment of the neurological manifestations.
- The prognosis largely correlates with the age at onset of the neurological manifestations.
Why it matters
This review discusses Niemann-Pick disease type C, a different disorder, and mentions a treatment for its neurological manifestations. It does not address Alzheimer's disease treatment, cure, or prevention.
New to this subject? Start with our plain-English guide: Getting a diagnosis →
Study details
- Evidence strengthLow
How this study scored 50/100
Published in a peer-reviewed journal. Scored zero for study design, sample size, effect reported, studied in people and randomised / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Orphanet journal of rare diseases) |
| Journal's citation record | 2 / 4 | Orphanet Journal of Rare Diseases: journal h-index 179 (OpenAlex, 2026-10-29) |
| Study design | 0 / 12 | No study design recorded — scores zero, not guessed (not stated in the record — scored 0) |
| Strength of evidence | 1 / 5 | Rated “low” in our summary |
| Peer-review validation | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| How recent | 1 / 5 | 2010 — within 20 year(s) of the newest study here |
| Sample size | 0 / 4 | Participant count not stated — scores zero (not stated in the record — scored 0) |
| Effect reported | 0 / 3 | No effect size reported — scores zero (not stated in the record — scored 0) |
| Studied in people | 0 / 3 | Not stated whether this was studied in people — scores zero (not stated in the record — scored 0) |
| Randomised / blinded | 0 / 2 | No randomisation or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 7 / 7 | Cited 1,224 times (OpenAlex, 2026-10-10) |
| Citations per year | 5 / 5 | 68.0 citations a year over 18 year(s) since 2010 |
| Impact for its field and year | 5 / 6 | Cited 30.5× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 0 / 6 | No other study in this library cites it |
| Still being cited | 3 / 4 | Cited 188 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 3 / 4 | Last-listed author Marie Therese Vanier: h-index 64 (OpenAlex, whole career) |
| Institution's track record | 2 / 3 | Inserm: institution h-index 1,988 (OpenAlex) |
| Multi-centre collaboration | 0 / 3 | OpenAlex lists 1 institution(s) in 1 country — scores zero (affiliation lists can be incomplete) |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 20525256) |
| Free to read | 2 / 2 | Free to read |
| Total | 50 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
- DOI: 10.1186/1750-1172-5-16
- PubMed: 20525256
- Original source →
- Free full text: Orphanet Journal of Rare Diseases →
Full text: free to read — OpenAlex lists this copy as free to read: the link above (checked 6 Feb 1020).
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
Built from the record alzhub holds for this paper, not looked up. Volume, issue and page numbers are not held in the record. Check the citation against the original before you use it.
APA 7th
Vanier, M. T. (2010). Niemann-Pick disease type C. Orphanet journal of rare diseases. https://doi.org/10.1186/1750-1172-5-16
Vancouver
Vanier MT. Niemann-Pick disease type C. Orphanet journal of rare diseases. 2010. doi:10.1186/1750-1172-5-16. PMID: 20525256.
BibTeX
@article{vanier2010-20525256,
author = {Vanier, M. T.},
title = {{Niemann-Pick disease type C}},
journal = {Orphanet journal of rare diseases},
year = {2010},
doi = {10.1186/1750-1172-5-16},
pmid = {20525256},
url = {https://doi.org/10.1186/1750-1172-5-16}
}