COL4A1-related familial vascular leukoencephalopathy

Details about this human disease

brain small vessel disease with or without ocular anomalies, autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy, brain small vessel disease with hemorrhage, COL4A1-related brain small vessel disease with hemorrhage, BSVD, infantile hemiparesis, brain small vessel disease with Axenfeld-Riegar anomaly, leukoencephalopathy with Axenfeld-Riegar anomaly, COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome

A brain disease characterized by autosomal dominant inheritance of fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has_material_basis_in heterozygous mutation in the COL4A1 gene on chromosome 13q34.

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• Publications (1)

White matter hyperintensities associated with small vessel disease impair social cognition beside attention and memory.

LIFE Adult

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Tobias Luck

Markus Löffler

Steffi Gerlinde Riedel-Heller

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Abstract (Expand)

Age-related white matter hyperintensities (WMH) are a manifestation of white matter damage seen on magnetic resonance imaging (MRI). They are related to vascular risk factors and cognitive impairment. … This study investigated the cognitive profile at different stages of WMH in a large community-dwelling sample; 849 subjects aged 21 to 79 years were classified on the 4-stage Fazekas scale according to hyperintense lesions seen on individual T2-weighted fluid-attenuated inversion recovery MRI scans. The evaluation of cognitive functioning included seven domains of cognitive performance and five domains of subjective impairment, as proposed by the DSM-5. For the first time, the impact of age-related WMH on Theory of Mind was investigated. Differences between Fazekas groups were analyzed non-parametrically and effect sizes were computed. Effect sizes revealed a slight overall cognitive decline in Fazekas groups 1 and 2 relative to healthy subjects. Fazekas group 3 presented substantial decline in social cognition, attention and memory, although characterized by a high inter-individual variability. WMH groups reported subjective cognitive decline. We demonstrate that extensive WMH are associated with specific impairment in attention, memory, social cognition, and subjective cognitive performance. The detailed neuropsychological characterization of WMH offers new therapeutic possibilities for those affected by vascular cognitive decline.

Authors: J. Kynast, L. Lampe, T. Luck, S. Frisch, K. Arelin, K. T. Hoffmann, M. Loeffler, S. G. Riedel-Heller, A. Villringer, M. L. Schroeter

Date Published: 8th Jul 2017

Publication Type: Journal article

Human Diseases: COL4A1-related familial vascular leukoencephalopathy

PubMed ID: 28685621

Citation: J Cereb Blood Flow Metab. 2018 Jun;38(6):996-1009. doi: 10.1177/0271678X17719380. Epub 2017 Jul 7.

Created: 13th May 2019 at 10:06, Last updated: 7th Dec 2021 at 17:58