Home › Research › Getting a diagnosis
The phenotypic spectrum of CADASIL: clinical findings in 102 cases
Dichgans M, Mayer M, Uttner I, Brüning R, Müller-Höcker J, Rungger G, Ebke M, Klockgether T et al.. Annals of neurology, 1998-11-01
Topic: Risk, prevention and care in population studies
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an increasingly recognized autosomal dominant disorder that leads to cerebrovascular manifestations in early adulthood. This study delineates the phenotypic spectrum and the natural history of the disease in 102 affected individuals from 29 families with biopsy-proven CADASIL. Recurrent ischemic episodes (transient ischemic attack [TIA] or stroke) were the most frequent presentation found in 71% of the cases (mean age at onset, 46.1 years; range, 30-66 years; SD, 9.0 years). Forty-eight percent of the cases had developed cognitive deficits. Dementia (28%) was frequently accompanied by gait disturbance (90%), urinary incontinence (86%), and pseudobulbar palsy (52%). Thirty-nine patients (38%) had a history of migraine (mean age at onset, 26.0 years; SD, 8.2 years), which was classified as migraine with aura in 87% of the cases. Psychiatric disturbances were present in 30% of the cases, with adjustment disorder (24%) being the most frequent diagnosis. Ten patients (10%) had a history of epileptic seizures. To delineate the functional consequences of ischemic deficits, we studied the extent of disability in different age groups. The full spectrum of disability was seen in all groups older than age 45. Fifty-five percent of the patients older than age 60 were unable to walk without assistance. However, 14% in this age group exhibited no disability at all. Kaplan-Meier analysis disclosed median survival times of 64 years (males) and 69 years (females). An investigation of the 18 multiplex families revealed marked intrafamilial variations.
Key findings
- An investigation of the 18 multiplex families revealed marked intrafamilial variations.
Why it matters
This study describes the phenotypic spectrum of CADASIL, an autosomal dominant disorder leading to cerebrovascular manifestations in early adulthood, with 28% of cases developing dementia. No information on treating, curing, or preventing Alzheimer's disease is provided in the available text.
New to this subject? Start with our plain-English guide: Getting a diagnosis →
Study details
- Evidence strengthLow
How this study scored 51/100
Published in a leading specialty 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 | 9 / 10 | Tier 2 — leading specialty journal (Annals of neurology) |
| Journal's citation record | 3 / 4 | Annals of Neurology: journal h-index 437 (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 | 1998 — older than 20 years, still counted |
| 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 | 6 / 7 | Cited 736 times (OpenAlex, 2026-10-10) |
| Citations per year | 4 / 5 | 24.5 citations a year over 30 year(s) since 1998 |
| Impact for its field and year | 4 / 6 | Cited 14.2× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 2 / 6 | Cited by 4 other studies in this library |
| Still being cited | 2 / 4 | Cited 41 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 4 / 4 | Last-listed author Thomas Gasser: h-index 136 (OpenAlex, whole career) |
| Institution's track record | 1 / 3 | Ludwig-Maximilians-Universität München: institution h-index 1,224 (OpenAlex) |
| Multi-centre collaboration | 2 / 3 | OpenAlex lists 4 institution(s) in 2 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 9818928) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 51 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
May need a subscription OpenAlex found no free copy of the full text (checked 6 Feb 1020), so the publisher may charge for it. The PubMed abstract is free.
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. The record's author list ends in “et al.”, so not every author is named. Check the citation against the original before you use it.
APA 7th
Dichgans, M., Mayer, M., Uttner, I., Brüning, R., Müller-Höcker, J., Rungger, G., et al. (1998). The phenotypic spectrum of CADASIL: clinical findings in 102 cases. Annals of neurology. https://doi.org/10.1002/ana.410440506
Vancouver
Dichgans M, Mayer M, Uttner I, Brüning R, Müller-Höcker J, Rungger G, et al. The phenotypic spectrum of CADASIL: clinical findings in 102 cases. Annals of neurology. 1998. doi:10.1002/ana.410440506. PMID: 9818928.
BibTeX
@article{dichgans1998-9818928,
author = {Dichgans, M. and Mayer, M. and Uttner, I. and Brüning, R. and Müller-Höcker, J. and Rungger, G. and Ebke, M. and Klockgether, T. and others},
title = {{The phenotypic spectrum of CADASIL: clinical findings in 102 cases}},
journal = {Annals of neurology},
year = {1998},
doi = {10.1002/ana.410440506},
pmid = {9818928},
url = {https://doi.org/10.1002/ana.410440506}
}
Studies this one cites
Referenced by this study and also in the alzhub library, so you can read them here.
Later studies that cite this one
4 studies in the alzhub library list this one in their references.
Related studies in Getting a diagnosis
Also in Getting a diagnosis
141 studies in the library are filed under Getting a diagnosis with no topic tag they share with another; these are this study's neighbours in a fixed tour of them. The Getting a diagnosis hub.