Imperial College London
Alternate

ProfessorRolandVeltkamp

Faculty of Medicine, Department of Brain Sciences

Professor of Neurology and Chair of Stroke Medicine
 
 
 
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Contact

 

r.veltkamp

 
 
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Location

 

3 East6East WingCharing Cross Campus

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Summary

 

Publications

Citation

BibTex format

@article{Strunk:2024:10.1007/s00415-024-12228-0,
author = {Strunk, D and Bauer, P and Keyvani, K and Diehl, RR and Veltkamp, R and Berlit, P and Meuth, SG and Timmermann, L and Schwitalla, JC and Kraemer, M},
doi = {10.1007/s00415-024-12228-0},
journal = {J Neurol},
title = {Moyamoya disease in Southeast Asians: genetic and autopsy data, new cases, systematic review, and meta-analysis of all patients from the literature.},
url = {http://dx.doi.org/10.1007/s00415-024-12228-0},
year = {2024}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - BACKGROUND: Moyamoya disease (MMD) is a rare disorder causing ischemic and hemorrhagic juvenile stroke. It is associated with the founder susceptibility variant p.R4810K in the RNF213 gene in East Asia. Our aim was to enhance understanding of MMD in so far poorly characterized Southeast Asians and exploring differences with Caucasian Europeans. METHODS: By retrospective analysis of medical records and systematic database search on PubMed for all published cases, we identified Southeast Asian patients with MMD. We extracted and pooled proportions using fixed-effects models. Our own cohort was tested for the East Asian RNF213 founder variant p.R4810K. One of our Southeast Asian patients underwent post-mortem histopathological examination. RESULTS: The study cohort comprised 32 Southeast Asians. Mean age at onset in the entire cohort was 32.5 ± 20.3 years (n = 24), 43.4 ± 8.7 years in patients admitted to our center (n = 11), and 23.4 ± 22.4 years in patients from the international literature (n = 13). Female-to-male ratio was 1.6:1. MMD predominantly affected bilateral anterior intracranial vessels. Cerebral ischemia outnumbered transient ischemic attacks (TIAs) and intracranial hemorrhage. TIAs, arterial hypertension and obesity were significantly less frequent in Southeast Asian patients compared to Caucasian Europeans. p.R4810K was absent in all examined Southeast Asians despite of typical histopathological signs of MMD in one autopsy case. CONCLUSION: Clinical and histopathological manifestations of MMD in Southeast Asians are similar to those in Caucasian Europeans. The genotype of MMD in Southeast Asians differs from that of most East Asian patients.
AU  - Strunk,D
AU  - Bauer,P
AU  - Keyvani,K
AU  - Diehl,RR
AU  - Veltkamp,R
AU  - Berlit,P
AU  - Meuth,SG
AU  - Timmermann,L
AU  - Schwitalla,JC
AU  - Kraemer,M
DO  - 10.1007/s00415-024-12228-0
PY  - 2024///
TI  - Moyamoya disease in Southeast Asians: genetic and autopsy data, new cases, systematic review, and meta-analysis of all patients from the literature.
T2  - J Neurol
UR  - http://dx.doi.org/10.1007/s00415-024-12228-0
UR  - https://www.ncbi.nlm.nih.gov/pubmed/38478032
ER  -
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