Evidence map›Paper›PMID 36324419›Full record

ReviewCerebral circulation - cognition and behavior2022

Cognitive aspects of MELAS and CARASAL.

I Canavero, N Rifino, V Montano, L Pantoni, L Gatti, G Pollaci, A Potenza, T Carrozzini, J Finsterer, A Bersano

Abstract readReview
In one paragraph

Review in Cerebral circulation - cognition and behavior, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

6 citing papers in PubMed.

  1. Genetics of intracerebral hemorrhage.Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism · 2026
    Review
  2. Article
  3. Review
  4. Review
  5. Article
  6. Editorial.Cerebral circulation - cognition and behavior · 2024
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

I CanaveroCerebrovascular Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
N RifinoUniversity of Milano-Bicocca, Milan, Italy.
V MontanoDepartment of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Italy.
L PantoniLuigi Sacco Department of Biomedical and Clinical Sciences, Stroke and Dementia Lab, University of Milan, Italy.
L GattiCerebrovascular Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
G PollaciCerebrovascular Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
A PotenzaCerebrovascular Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
T CarrozziniCerebrovascular Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
J FinstererKrankenanstalt Rudolfstiftung, Messerli Institute, Vienna, Austria.
A BersanoCerebrovascular Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Monogenic diseases, although rare, should be always considered in the diagnostic work up of vascular dementia (VaD), particularly in patients with early onset and a familial history of dementia or cerebrovascular disease. They include, other than CADASIL, Fabry disease, Col4A1-A2 related disorders, which are well recognized causes of VaD, other heritable diseases such as mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) and cathepsin-A related arteriopathy strokes and leukoencephalopathy (CARASAL). MELAS, caused by mtDNA (80% of adult cases m.3243A>G mutations) and more rarely POLG1 mutations, has minimum prevalence of 3.5/100,000. CARASAL, which is caused by mutations in the CTSA gene, has been described in about 19 patients so far. In both these two disorders cognitive features have not been fully explored and are described only in case series or families. This review paper is aimed at providing an update on the clinical manifestations, with particular focus on cognitive aspects, but also neuroradiological and genetic features of these less frequent monogenic diseases associated with VaD.

Indexed as

CARASALCARASAL, cathepsin-A related arteriopathy strokes and leukoencephalopathyCerebral small vessel diseaseCognitive impairmentCOL4A1/A2, gene encoding type IV collagen alpha 1–2 chaincSVD, cerebral small vessel diseaseEAN, European academy of neurologyHeritableMELASMELAS, mitochondrial encephalopathy, lactic acidosis and stroke-like episodesMonogenic diseasesMRI, magnetic resonance imagingOXPHOS, oxidative phosphorylation systemSLEs, stroke-like episodesTIA, transitory ischemic attackVaD, vascular dementiaVascular dementiaVCI, vascular cognitive impairmentWMHs, white matter hyperintensities

Identifiers

PMID36324419
PMCPMC9616374

What OpenQuestion holds

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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.