3.8 Article

Cognitive aspects of MELAS and CARASAL

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ELSEVIER
DOI: 10.1016/j.cccb.2022.100139

Keywords

Vascular dementia; Cognitive impairment; CARASAL; MELAS; Monogenic diseases; Cerebral small vessel disease; Heritable

Funding

  1. Telethon Grant [GUP09004]
  2. Telethon-MITOCON grant [GSP16001, RF-2016-02361495]
  3. EJPRD2019 project GENOMIT

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This review paper aims to provide an update on the clinical manifestations of these less frequent monogenic diseases associated with VaD, with a particular focus on cognitive aspects, as well as neuroradiological and genetic features.
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.

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