A hereditary moyamoya syndrome with multisystemic manifestations

Hervé, Dominique; Touraine, P.; Verloes, Alain; Miskinyte, S.; Krivosic, Valérie; Logeart, D.; Alili, Nassira; Laredo, J. D.; Gaudric, Alain; Houdart, Emmanuel; Metzger, James; Tournier‐Lasserve, Elisabeth; Woimant, F.

doi:10.1212/wnl.0b013e3181e8ee3f

Cited by 42 publications

(24 citation statements)

References 22 publications

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“…On the other hand, autosomal-recessive MMD with achalasia has been associated with mutations in GUCY1A3 on chromosome 4q32.1 [167], encoding a subunit of the main receptor for nitric oxide (NO) [168]. In addition, syndromic MMD displaying X-linked recessive inheritance [169] has been associated with loss of BRCC3 (Xq28), a gene essential for angiogenesis [170]. Finally, MMD with no strictly defined pattern of inheritance has been associated with numerous other loci [171-176].…”

Section: Hereditary Hemorrhagic Cerebrovascular Diseasementioning

confidence: 99%

Cerebrovascular disorders associated with genetic lesions

Karschnia

Nishimura

Louvi

2018

Cell. Mol. Life Sci.

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Cerebrovascular disorders are underlain by perturbations in cerebral blood flow and abnormalities in blood vessel structure. Here we provide an overview of current knowledge of select cerebrovascular disorders that are associated with genetic lesions and connect genomic findings with analyses aiming to elucidate the cellular and molecular mechanisms of disease pathogenesis. We argue that a mechanistic understanding of genetic (familial) forms of cerebrovascular disease is a prerequisite for the development of rational therapeutic approaches, and has wider implications for treatment of sporadic (non-familial) forms, which are usually more common.

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Section: Hereditary Hemorrhagic Cerebrovascular Diseasementioning

confidence: 99%

Cerebrovascular disorders associated with genetic lesions

Karschnia

Nishimura

Louvi

2018

Cell. Mol. Life Sci.

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“…Stroke due to moyamoya disease has previously been reported in families or observed as part of various genetic syndromes (Kuroda and Houdin, 2008;Herve et al, 2010;Munot et al, 2011). The older sister had a moyamoya type of stroke at the age of 8 years.…”

Section: Introductionmentioning

confidence: 96%

Dysmorphic features, cognitive disability, chronic inflammation, and predisposition to vascular disease in two sisters

Velinov

Dolzhanskaya

Ramaswamy

et al. 2012

Clinical Dysmorphology

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A 20-year-old woman presented with mental retardation and a history of stroke related to moyamoya disease at the age of 8 years. She had cognitive impairment which became more pronounced after the stroke. This patient's parents were first cousins and six close family relatives had strokes in their 60s or 70s. The patient's 16-year-old sister had learning disability, chronic muscle pain, and an ECG suggestive of previous hypoxemic heart injury. The two sisters had similar dysmorphic facial appearance including a prominent philtrum, bulbous nose, and severe acne. They both had increased subcutaneous tissue in their faces, whereas their bodies were slim. Both sisters were found to have elevated levels of rheumatoid factor, C-reactive protein, and erythrocyte sedimentation rate on repeat measurements. Partial autoimmunity screening in one of the patients was negative. Chromosome analysis and array comparative genomic hybridization analyses were also normal. Nerve conduction findings in the younger sister were consistent with distal, predominantly motor, demyelinating neuropathy localized to the lower extremities. We propose that these two sisters suffer from a new autosomal recessive syndrome. Carrier status for this condition may predispose to later onset stroke.

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“…MYMY-5 (MYMY5) is caused by mutation in the ACTA2 gene on ch10q23.3 [51]. Finally, an X-linked recessive syndromic disorder characterized by MYMY, short stature, hypergonadotropic hypogonadism and facial dysmorphism has been identified in members of three unrelated families (MYMY4) [52]. The deleted region was mapped on chXq28 and included exon 1 of the MTCP1/MTCP1NB gene and the first three exons of the BRCC3 gene [52, 53].…”

Section: Introductionmentioning

confidence: 99%

Genetic susceptibility to cerebrovascular disease

Della-Morte

Pacifici

Rundek

2016

Current Opinion in Lipidology

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Purpose of review Cerebrovascular Disease (CeVD) remains a major cause of death and a leading cause of disability worldwide. CeVD is a complex and multifactorial disease caused by the interaction of vascular risk factors, environment and genetic factors. In the present article we discussed genetic susceptibility to CeVD, with particular emphasis on genetic studies of the associations between lipid traits and CeVD. Recent findings Several animal and clinical studies clearly defined genetic predisposition to atherosclerosis and CeVD, and particularly to ischemic stroke. Recent evidence has shown that traditional vascular risk factors explain only a small proportion of variance in atherosclerosis, suggesting that additional non-traditional factors and novel genetic determinants impact CeVD. With the help of genome-wide technology, novel genetic variants have been implicated in CeVD and lipid metabolism such as those in protein convertase subtilisin/kexin type 9 (PCSK9) gene in stroke and familial hypercholesterolemia. These studies are important since they contribute to our understanding of the genetic mechanisms underlying CeVD and to developing more effective CeVD prevention strategies. Summary CeVD is a complex and multifactorial disease and genetics likely plays an important role in its pathogenesis. The gene–gene and gene–environment interactions of genes involved in biology of vascular disease including the lipid metabolism are important factors for individual susceptibility to CeVD. Accounting for individual variation in genes, environment and lifestyle will bring us closer to precision medicine, which is an emerging and recently introduced new approach for disease treatment and prevention in clinical practice.

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A hereditary moyamoya syndrome with multisystemic manifestations

Abstract: These data strongly suggest that this family is affected by a hereditary moyamoya multisystem disorder with X-linked recessive pattern of inheritance.

Cited by 42 publications

References 22 publications

Cerebrovascular disorders associated with genetic lesions

Cerebrovascular disorders associated with genetic lesions

Dysmorphic features, cognitive disability, chronic inflammation, and predisposition to vascular disease in two sisters

Genetic susceptibility to cerebrovascular disease

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