Cognitive aspects of MELAS and CARASAL.

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

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

Afiliación

Canavero I; Cerebrovascular Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Rifino N; University of Milano-Bicocca, Milan, Italy.
Montano V; Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Italy.
Pantoni L; Luigi Sacco Department of Biomedical and Clinical Sciences, Stroke and Dementia Lab, University of Milan, Italy.
Gatti L; Cerebrovascular Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Pollaci G; Cerebrovascular Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Potenza A; Cerebrovascular Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Carrozzini T; Cerebrovascular Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Finsterer J; Krankenanstalt Rudolfstiftung, Messerli Institute, Vienna, Austria.
Bersano A; Cerebrovascular Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

Cereb Circ Cogn Behav ; 3: 100139, 2022.

Article en En | MEDLINE | ID: mdl-36324419

RESUMEN

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.

Palabras clave

CARASAL; CARASAL, cathepsin-A related arteriopathy strokes and leukoencephalopathy; COL4A1/A2, gene encoding type IV collagen alpha 12 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

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Risk_factors_studies Idioma: En Revista: Cereb Circ Cogn Behav Año: 2022 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Países Bajos

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