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MAP3K6 Mutations in...
MAP3K6 Mutations in a Neurovascular Disease Causing Stroke, Cognitive Impairment, and Tremor
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- Ilinca, Andreea (författare)
- Lund University,Lunds universitet,Klinisk strokeforskning,Forskargrupper vid Lunds universitet,Klinisk neurogenetik,Clinical Stroke Research Group,Lund University Research Groups,Clinical Neurogenetics,Skåne University Hospital
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- Englund, Elisabet (författare)
- Lund University,Lunds universitet,Patologi, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Pathology, Lund,Section V,Department of Clinical Sciences, Lund,Faculty of Medicine,Regional Laboratories Region Skåne
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- Samuelsson, Sofie (författare)
- Regional Laboratories Region Skåne
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- Truvé, Katarina (författare)
- University of Gothenburg
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- Kafantari, Efthymia (författare)
- Lund University,Lunds universitet,Klinisk neurogenetik,Forskargrupper vid Lunds universitet,Clinical Neurogenetics,Lund University Research Groups,Skåne University Hospital
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- Martinez-Majander, Nicolas (författare)
- University of Helsinki
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- Putaala, Jukka (författare)
- University of Helsinki
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- Håkansson, Claes (författare)
- Lund University,Lunds universitet,Kliniska Vetenskaper, Helsingborg,Sektion II,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Diagnostisk radiologi, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Clinical Sciences, Helsingborg,Section II,Department of Clinical Sciences, Lund,Faculty of Medicine,Diagnostic Radiology, (Lund),Section V,Department of Clinical Sciences, Lund,Skåne University Hospital
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- Lindgren, Arne G (författare)
- Lund University,Lunds universitet,Klinisk strokeforskning,Forskargrupper vid Lunds universitet,Clinical Stroke Research Group,Lund University Research Groups,Skåne University Hospital
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- Puschmann, Andreas (författare)
- Lund University,Lunds universitet,Klinisk neurogenetik,Forskargrupper vid Lunds universitet,Clinical Neurogenetics,Lund University Research Groups,Skåne University Hospital
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(creator_code:org_t)
- 2021
- 2021
- Engelska.
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Ingår i: Neurology: Genetics. - 2376-7839. ; 7:1
- Relaterad länk:
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http://dx.doi.org/10... (free)
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- Objective: To describe a possible novel genetic mechanism for cerebral small vessel disease (cSVD) and stroke.Methods: We studied a Swedish kindred with ischemic stroke and intracerebral hemorrhage, tremor, dysautonomia, and mild cognitive decline. Members were examined clinically, radiologically, and by histopathology. Genetic workup included whole-exome sequencing (WES) and whole-genome sequencing (WGS) and intrafamilial cosegregation analyses.Results: Fifteen family members were examined clinically. Twelve affected individuals had white matter hyperintensities and 1 or more of (1) stroke episodes, (2) clinically silent lacunar ischemic lesions, and (3) cognitive dysfunction. All affected individuals had tremor and/or atactic gait disturbance. Mild symmetric basal ganglia calcifications were seen in 3 affected members. Postmortem examination of 1 affected member showed pathologic alterations in both small and large arteries the brain. Skin biopsies of 3 affected members showed extracellular amorphous deposits within the subepidermal zone, which may represent degenerated arterioles. WES or WGS did not reveal any potentially disease-causing variants in known genes for cSVDs or idiopathic basal ganglia calcification, but identified 1 heterozygous variant, NM_004672.4 MAP3K6 c.322G>A p.(Asp108Asn), that cosegregated with the disease in this large family. MAP3K6 has known functions in angiogenesis and affects vascular endothelial growth factor expression, which may be implicated in cerebrovascular disease.Conclusions: Our data strongly suggest the MAP3K6 variant to be causative for this novel disease phenotype, but the absence of functional data and the present lack of additional families with this disease and MAP3K6 mutations still limit the formal evidence for the variant's pathogenicity.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
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- art (ämneskategori)
- ref (ämneskategori)
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