Cognitive aspects of MELAS and CARASAL.
CARASAL
CARASAL, cathepsin-A related arteriopathy strokes and leukoencephalopathy
COL4A1/A2, gene encoding type IV collagen alpha 1–2 chain
Cerebral small vessel disease
Cognitive impairment
EAN, European academy of neurology
Heritable
MELAS
MELAS, mitochondrial encephalopathy, lactic acidosis and stroke-like episodes
MRI, magnetic resonance imaging
Monogenic diseases
OXPHOS, oxidative phosphorylation system
SLEs, stroke-like episodes
TIA, transitory ischemic attack
VCI, vascular cognitive impairment
VaD, vascular dementia
Vascular dementia
WMHs, white matter hyperintensities
cSVD, cerebral small vessel disease
Journal
Cerebral circulation - cognition and behavior
ISSN: 2666-2450
Titre abrégé: Cereb Circ Cogn Behav
Pays: Netherlands
ID NLM: 101774849
Informations de publication
Date de publication:
2022
2022
Historique:
received:
30
09
2021
revised:
18
03
2022
accepted:
19
03
2022
entrez:
3
11
2022
pubmed:
4
11
2022
medline:
4
11
2022
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 36324419
doi: 10.1016/j.cccb.2022.100139
pii: S2666-2450(22)00104-0
pmc: PMC9616374
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
100139Informations de copyright
© 2022 The Authors. Published by Elsevier B.V.
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