#cadasil

[nits-wits]

usher genetics

spoilers for the fall of the house of usher below

this might be a symptom of being in medical school but when i realized that to the outside eye and to roderick for a while, verna and all of the supernatural shit is all explained by CADASIL, as the vascular dementia produces hallucinations. for those who don't know CADASIL is a real disease! and it has an autosomal dominant inheritance (cerebral Autosomal Dominant arteriopathy with subcortical Infarcts and leukoencephalopathy). if you don't remember high school genetics, look at this punnet square:

it essentially shows that if a person with the AD disease (Kk - K indicating the diseased allele, k indicating the normal allele) has a child with someone who is unaffected (kk), there's a 50% chance that the child will have the disease.

roderick has CADASIL, as he got it from his mother, and in roderick, it is presenting with what seems to be incredibly vivid horrible hallucinations.

here's the thing though - before they die, all of the usher children ALSO have vivid hallucinations (or rather, verna comes to them) and i was wondering why they are much younger than their dad and presenting with similar symptoms. and then i realized something else was at play. anticipation. in genetics, anticipation occurs when a disease presents earlier and more severely in the following generations. a classic case of this occurs with huntington's disease.

roderick gets it old, but then as he has kids, they get it younger, and lenore, the final generation, has her hallucination as a very young teenager. it took a small literature search to find this case study of a Japanese family with CADASIL that does indeed present with anticipatory genes. it also makes sense that the hallucinations and presentation of all of the children all show up - CADASIL has complete penetrance even if there's clinical variability.

when verna says "let the next generation deal with it", it's not just all of the shit and horror that capitalism and boomers and roderick kick the can down to, but also the very real horror of subjecting children to hallucinations that show their incoming death.

good job @flanaganfilm. this nerd appreciates your commitment to the storytelling.

[foxynovacoda]

A li'l meme I made (probably historically inaccurate)

[crybaby611]

today

05/31/2024

possible CADASIL

answers but not what i wanted i guess

what exactly did i want or expect

[lemonkennedy]

call us the house of usher baby, because we rock this cadasil gene

[leedsomics]

Plasma Proteomics of Genetic Brain Arteriosclerosis and Dementia Syndrome Identifies Signatures of Fibrosis, Angiogenesis, and Metabolic Alterations

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common monogenic form of vascular cognitive impairment and dementia. A genetic arteriolosclerotic disease, the molecular mechanisms driving vascular brain degeneration and decline remain unclear. With the goal of driving discovery of disease-relevant biological perturbations in CADASIL, we used machine learning approaches to extract proteomic disease signatures from large-scale proteomics generated from plasma collected from three distinct cohorts in US and Colombia: CADASIL-Early (N = 53), CADASIL-Late (N = 45), and CADASIL-Colombia (N = 71). We extracted molecular signatures with high predictive value for early and late-stage CADASIL and performed robust cross- and external-validation. We examined the biological and clinical relevance of our findings through pathway enrichment analysis and testing of associations with clinical outcomes. Our study represents a model for unbiased discovery of molecular signatures and disease biomarkers, combining non-invasive plasma proteomics with clinical data. We report on novel disease-associated molecular signatures for CADASIL, derived from the accessible plasma proteome, with relevance to vascular cognitive impairment and dementia. http://dlvr.it/T4qfMD

[daiyunwang-cn]

有遗传病史，三代试管可以筛查吗？广州代孕医院分享~

全世界遗传性疾病有 4000余种，目前通过使用第三代试管婴儿技术，能筛选甄别和检测的遗传性疾病达确定的多达100种，具体有以下疾病：

1、ABO血型不相容

2、超免疫球蛋白M

3、阿拉吉耶综合征

4、软骨发育低下

5、阿尔珀斯疾病

6、低磷酸酯酶

7、阿尔法1抗胰蛋白酶

8、低磷软骨病

9、a-地中海贫血

10、色素失调症

11、奥尔波特综合征

12、小儿神经轴素营养不良

13、反凯尔抗体

14、青少年神经蜡状脂褐质

15、贝克肌营养不良

16、青少年视网膜

17、β-地中海贫血

18、小儿神经晚（巴滕病蜡状褐）

19、脸裂下垂内眦 皮反应

20、洛韦oculocerebrorenal综合症

21、乳腺癌，基因1

22、马凡氏综合征

23、乳腺癌，基因2

24中链酰基辅酶A脱氢酶缺乏症

25、氨基甲酰磷酸合成酶缺乏症

26、甲状腺髓样癌（RET）

27、中央核心疾病

28、异染性脑白质营养不良

29、脑动脉（CADASIL）

30、黏多糖症第三B

31、腓骨肌萎缩症1A

32、多发性内分泌腺癌2A

33、腓骨肌萎缩症1B

34、遗传性骨软骨瘤病

35、慢性内芽肿病（CGD）

36、强直性肌营养不良症

37、先天性肾上腺皮质增生症

38、肌管性肌病

39、先天性异常糖基化

40、指甲髌骨综合征

41、先天性肾病综合征

42、杆状体肌病

43、间隙连接蛋白26

44、肾性尿崩症

45、克里格勒性黄疸综合征

46、1型神经纤维瘤

47、克鲁宗合征

48、2型神经纤维瘤病

49、囊性纤维化

50、诺里病

51、捷克发育不良

52、眼皮肤白化病

53、代-索二氏综合征

54、Ornitrine转移酶缺乏症

55、杜氏肌营养不良症

56、成骨发育不全1型

57、早发性阿尔茨海默病

58、掌跖角化过度

59、早发性扭转性肌张力障碍

60、彭德菜综合征

61、上皮细胞钙粘蛋白

62、臂间倒位的X

63、外胚层发育不良

64、多囊肾病，常染色体显性遗传，基因1

65、埃默里斯德雷菲斯肌营养不良症

66、多囊肾病，常染色体显性遗传，基因2

67、大疱性表皮松解，优势营养不良

68、多囊肾病，常染色体隐性

69、大疱性表皮松解，赫利茨交界，基因1

70、近端肌强直性肌病

71、大疱性表皮松解，赫利茨交界，基因2

72、银屑病，晚感基因

73、掌跖角化表皮

74、肺泡蛋白沉积症

75、面肩肱型肌营养不良症

76、视网膜母细胞瘤

77、家族性腺瘤性息肉病

78、恒河猴D疾病

79、家族肌萎缩侧索硬化症（葛雷���氏症）

80、塞-科二氏综合征：尖头并指（趾）畸形综合��Ⅲ型

81、费希特纳综合征

82、山德霍夫氏病病

83、脆性X

84、镰状细胞性贫血

85、延胡索不足

86、辛普森Golabi Behmel综合征

87、半乳糖血症

88、痉挛性截瘫

89、Gauchet病2型

90、脊髓性肌萎缩1

91、葡萄糖6磷酸脱氢酶

92、脊髓性肌萎缩症2

93、肝糖储积症1b

94、脊髓性肌萎缩3

95、囟门早闭综合征

96、斯蒂克勒综合征

97、基底细胞综合征

98、甲状腺癌

99、血友病甲

100、易位-各

101、血友病乙

102、转体淀粉样变性

103、遗传性非息肉结肠癌2

104、下颌面骨发育不全

105、遗传性球形红细胞增多症

106、结节性硬化症，基因1

107、先天性巨结肠病

108、结节性硬化症，基因2

109、HLA的维斯科特-奥尔德里奇比赛综合征

110、乌尔里希先天性肌营养不良

111、乙型地中海贫血HLA的匹配

112、卵黄状黄斑营养不良

113、HLA的匹配钻石布菜克法恩贫血

114、希林二氏病；脑视网膜血管瘤病

115、人类白细胞抗原免疫球蛋白M配合超

116、威母氏原细胞癌

117、组织配型与镰状细胞性贫血

118、威斯科特-奥尔德里奇综合征

119、HLA配型

120、、沃尔曼疾病

121、霍尔特奥拉姆综合症

122、X-连锁肾上腺脑白质营养不良

123、亨特综合症（黏多糖症二A）

124、X-连锁choroideremia

125、亨廷顿病

126、齐薇格综合征

[andarthas-web]

Sounds like Anon might have chillblain Lupus erythematodes.

Corticosteroids and Immunosuppressants can help in such a case. They also might want to get it checked out by a specialist, because it *can* be part of a larger, more serious problem like CADASIL, which is associated with depression, migraines and strokes and RVCL, which is associated with dementia, loss of eyesight and also stroke. (They're all due to changes in the TREX1 gene.)

So I have this weird reaction to cold weather where I can get painful red bumps on my hands, generally my fingers. It isn't contagious and generallygo within 3 weeks. Now I work retail, and I'm not supposed to wear gloves as they're "unprofessional". In the past few days I've had a customer demand to know what's wrong with me and another customer ask my manager to send me home for "having chickenpox" despite the bumps not looking like chickenpox spots other than being red and not having then anywhere other than two fingers at the moment.

[lostandfouundd]

CADASIL

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, usually called CADASIL, is an inherited condition that causes stroke and other impairments. This condition affects blood flow in small blood vessels, particularly cerebral vessels within the brain. The muscle cells surrounding these blood vessels (vascular smooth muscle cells) are abnormal and gradually die. In the brain, the resulting blood vessel damage (arteriopathy) can cause migraines, often with visual sensations or auras, or recurrent seizures (epilepsy).

The most common symptoms are:

✔️Recurrent ischemic strokes (transient ischemic attack/stroke) in adulthood that may lead to severe disability such as an inability to walk and urinary incontinence. The average age at onset for stroke-like episodes is 46 years. Transient ischemic attacks and stroke are reported in approximately 85% of symptomatic individuals

✔️Progressive cognitive decline with dementia developing in about 75% of affected people including significant difficulty with reasoning and memory

✔️Migraine, usually with aura, as the first symptom in the third decade of life

✔️Psychiatric problems such as mood disturbances (apathy and depression), presenting in about 30% of people with CADASIL

✔️Seizures with epilepsy is present in 10% of affected people and usually presents at middle age

✔️Diffuse white matter lesions and subcortical infarcts on neuroimaging.

Source:

https://ghr.nlm.nih.gov/condition/cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy

https://rarediseases.info.nih.gov/diseases/1049/cadasil

[ravidbmr]

Global CADASIL treatment market is expected to grow at a steady CAGR in the forecast period of 2019-2026. Emergence of drugs used to treat risk associated with CADASIL such as migraine and high demand of disease specific novel therapies are the key factors that fueling the market growth.

For more info@ https://bit.ly/39zRKAr 

[marketreserchnews]

https://www.databridgemarketresearch.com/reports/global-cardasil-treatment-market

[mucillo]

Guarda "CHE COS'E' PER VOI LA DIGNITA'? FINALE MAR ADENTRO" su YouTube

Mare dentro: la poesia di Ramón Sampedro

Toccante e bellissima è la poesia che dà il titolo al film di Amenábar, che di seguito riportiamo integralmente:

Mare dentro, mare dentro,

senza peso nel fondo,

dove si avvera il sogno:

due volontà fanno vero un desiderio nell’incontro.

Un bacio accende la vita

con il fragore luminoso di una saetta,

il mio corpo cambiato

non è più il mio corpo,

è come penetrare al centro dell’universo.

L’abbraccio più infantile,

è il più puro dei baci,

fino a diventare un unico desiderio.

Il tuo sguardo, il mio sguardo,

come un’eco che ripete senza parole:

più dentro,

più dentro,

fino al di là del tutto,

attraverso il sangue e il midollo.

Però sempre mi sveglio,

e sempre voglio essere morto,

per restare con la mia bocca

preso nella rete dei tuoi capelli.

La poesia è dedicata a Julia, la donna amata da Ramón, avvocatessa che lo sostenne nella sua battaglia e anch’essa afflitta da una malattia degenerativa, la CADASIL.

[saraozs]

CADASIL (Cerebral Autosomal Dominant Arteriopathy with Sub-cortical Infarcts and Leukoencephalopathy)

The name of the disease says it all.

One of the shortest sad stories.

[lupinepublishers-ojnbd]

Lupine Publishers| Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) Syndrome: A Case Report

Lupine Publishers | Journal of Neurology and Brain Disorders

Abstract

Cerebral autosomal dominant arteriopathy with sub cortical infarcts and leukoencephalopathy (CADASIL) is a rare autosomal dominant genetic disease. A35 year old women presented with progressive loss of memory left sided weakness and hemiplegic and non insulin dependent diabetes mellitus with characteristic MRI findings is reported due to its rarity.

Keywords: CADASIL Small vessel disease; Cognitive impairment

Introduction

Cerebral small vessel disease (SVD) is increasingly being recognized as the cause of stroke, impaired cognitive function and mood disorders in geriatric age group. Commonly SVD is sporadic due to old age and high blood pressure, but occasionally SVD has a monogenic cause. The best known among these is cerebral autosomal dominant arteriopathy with sub cortical infarcts and leuko encephalopathy(CADASIL), a rare type of autosomal dominant cerebral angiopathy. It causes recurrent sub cortical ischemic events and vascular dementia which appear as diffuse white matter abnormality on neuro imaging. It involves mainly the small cerebral vessels; histopathology reveals non-atherosclerotic and non-amyloidal angiopathy. [1] The 1st case of aforementioned symptoms was reported 30 years ago in a Swedish family [2] and the term CADASIL was coined in early 1990's [3] Since then CADASIL has been diagnosed in number of families and ethnic groups all over the world.

The prevalence of the condition varies between 2 and 5 in 100,000. Clinically the condition manifests in early or middle adulthood with variety of complaints ranging from migraine, with or without aura, which occur in 30-40% individual, mood disorders, usually depression seen in 30 % people, along with recurrent ischemic events, transient or permanent, accompanied by progressive cognitive impairment leading to dementia and premature death [4-5].

Case Report

This 35 years old married female patient was brought to the psychiatry outpatient department by her family members with the complaint of gradual decline of memory, difficulty in walking due to residual left sided motor weakness and co morbid Non Insulin dependent Diabetes Mellitus. There was no history of hypertension, depression or psychosis or impaired pain sensation. No history of seizures. EEG done earlier did not reveal any abnormality. There was past history of two episodes of CVA in last 5 years. Family history was not significant for headache but there was history of premature death of uncles. Physical examination showed thin built poorly nourished lady. There was no pallor, cyanosis, icterus, edema or generalized lymphadenopathy. Systemic examination of central nervous system revealed grade 3 motor weakness in left upper and lower limbs. Cranial nerves and fundi were normal. There were no sensory deficits or cerebellar signs. Examination of other systems was normal. Score on Mini Mental Status Examination was 12 out of 20. Relevant investigations including hemoglobin, blood sugar, HbA1c, liver function tests, SGOT, SGPT, alkaline phosphatase, blood urea, serum creatinine, were within normal limits. CT Scan brain showed a lacunar infarct in left external capsular region and age inappropriate diffuse cerebral atrophy. MRI of brain revealed diffuse cerebral atrophy with prominent sulcal spaces with periventricular and subcortical arteriosclerotic white matter changes. Small areas of acute to sub acute infarct in rest of the bilateral parietal and frontal lobes support diagnosis of CADASIL Syndrome.

Discussion

CADASIL gene was first identified on the chromosome 19 in the year 1996 [6] Subsequent studies revealed the mutation of NOTCH3 gene on chromosome 19q12. This gene codes for transmembrane receptor protein which is located on surface of smooth muscle cell which surrounds arteries. When pathological NOTCH3 receptor protein got accumulated in cerebral arteries it resulted in varied symptoms of CADAIL [7].

Patient with CADASIL can present with a variety of psychiatric manifestation in 20-41% of cases. The psychiatric manifestations range from agoraphobia, psychoses, personality disorders, alcohol and substance use disorders, adjustment disorder to episodic mood disturbances and bipolar affective disorder [4,8].

CADASIL should be suspected in individual with history of transient ischemic attacks, migraine, severe mood disturbances or late onset affective disorder with headache and neurological symptoms [8-9]. MRI studies shows hyper-intense lesion and ischemic lesion in Basal Ganglia and frontal location of white matter is associated with mood disturbances in patient of CADASIL [10-11].

To conclude it is advisable to do MRI brain in patients presenting with late onset Psychiatric Disturbances and a diagnosis of CADASIL should be considered as a possible differential diagnosis whenever a marked leukoencephalopathy is reported [12].

https://lupinepublishers.com/neurology-brain-disorders-journal/fulltext/cerebral-autosomal-dominant-arteriopathy-with-sub-ortical-infarcts-and-leukoen-cephalopathy-syndrome-a-case-report.ID.000101.php

For more Journal of Neurology and Brain Disorders articles Please Click Here: https://lupinepublishers.com/neurology-brain-disorders-journal/

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Follow on Linkedin : https://www.linkedin.com/company/lupinepublishers

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[diagnosaurx-blog]

CADASIL . . . Want full size JPEG images? Follow instructions here 👉🏼 @DiagnosauRx 📕 @DiagnosauRx 📗 @DiagnosauRx 📘 @DiagnosauRx 📙 @DiagnosauRx . . . Want to add additional information? Comment below! . . . . . . . . . #MBBS #MedicineSchool #MedicalNotes #InternalMedicine #FutureDoctors #Physicians #DoctorsOfInstagram #MedicalLife #PhysicianAssistant #MedSchoolLife #USMLE #NEET #Medicine #DiagnosauRx #DoctorToBe #Notestagram #StudyNotes #comlex #nclex #PLAB #StudyAccount #PassCSA #JuniorDoctor #Studyspo #Neurology #CADASIL (at Ahmedabad, India)

[4eternal-life]

Whistler -Nocturne in Black and Gold, the Falling Rocket, 1875

The Falling Rocket is fundamentally composed of bleak tones, with three main colors: blue, green, and yellow. Restricted in its use of colors, the piece develops a muted yet harmonious composition. The billowing smoke gives the viewer a clear distinction between the water and the sky, where the separation blurs into a cohesive and somber space. It is this large avalanche of fog that represents the rocket of the title. Dabs of yellow enliven the artwork as exploding fireworks in the misty air. The figures watching are almost transparent, their shapes general and simplistic. To the left, the artist signs his name in a manner that has clearly been influenced by Japanese prints, with thick, straight brushstrokes that appear to imitate Japanese characters. Influenced by Japanese artists like Utagawa Hiroshige, Whistler spent years perfecting his splatter technique. Eventually he possessed the ability to make an object or person with what appeared to be nothing more than a single flick of paint. Although Whistler's critics denounced his technique as reckless or lacking artistic merit, it is notable that Whistler spent much of his time with meticulous details, often going so far as to view his work through mirrors to ensure that no deficiencies were overlooked.

The Falling Rocket retains a certain degree of colour-laden luminosity that provokes spatial ambiguity set against a structure of line and form. Nocturnes were a series of paintings which, through painterly style, were evocative of differing night time scenes. The artist insisted that they were not pictures, but rather, scenes or moments.

Working against contemporary inclinations for narrative (indicative of the heavy consumption of literature), Whistler can be seen arguing for painting's essential difference from literature within this work, as colour and tone trounce hints of narrative or moral allusion. Whistler's focus was on coloristic effects as a means of creating a particular sensation. More than that, a Nocturne is concerned with its depiction of space, seeking a particular sense of void that seems to arise only in the night time. As part of the Art for Art's Sake movement, the artwork seeks to provide complex emotions that go beyond the technicalities of the imagery. Whistler believed that certain experiences were often best expressed by nuance and implication. These compositions were not designed to avoid the truth of a scene, but instead served as a means of reaching deeper, more hidden truths. His artistic endeavours no longer concerned themselves with physical accuracy, seeking only to capture the essence of an intangible, personal and intimate moment. The Falling Rocket is the synthesis of a fireworks scene in London, and so by no means does it aim to look like it. Like his other Nocturnes, the painting is meant to be seen as an arrangement, set to invoke particular sensations for the audience.

Affronted by The Falling Rocket, John Ruskin accused Whistler of "flinging a pot of paint in the public's face" in the Fors Clavigera. As a leading art critic of the Victorian era, Ruskin's harsh critique of The Falling Rocket caused an uproar among owners of other Whistler works. Rapidly, it became shameful to have a Whistler piece, pushing the artist into greater financial difficulties. With his pride, finances, and the significance of his Nocturne at stake, Whistler sued Ruskin for libel in defence. In court, he asked the jury to not view it as a traditional painting, but instead as an artistic arrangement. In his explanation, he insisted that the painting was a representation of the fireworks from the Cremorne Gardens. During the trial, Sir John Holker asked, "Not a view of the Cremorne?" to which Whistler was quoted as saying, "If it were a view of Cremorne, it would certainly bring about nothing but disappointment on the part of the beholders." However, his case was not helped when The Falling Rocket was accidentally presented to trial upside down.[7] His explanation of the composition proved fruitless before the judge. The Ruskin vs. Whistler Trial, which took place on November 25 and 26, 1878, was disastrous for Whistler. While he did not lose, he only won a farthing. After all the court costs, he had no choice but to declare bankruptcy. Whistler was forced to pawn, sell, and mortgage everything he could get his hands on.

John Ruskin (1819-1900) had berated Whistler's paintings long before the event leading up to the trial. Four years earlier he had denounced Whistler's art as "absolute rubbish". It is speculated that Ruskin was envious of Whistler's close relationship with Charles Augustus Howell, who often aided Whistler financially – especially after the court case. It is also said that the artist's lack of homage offended Ruskin. Whistler was not the only person disturbed by the art critic's commentary. Henry James was one individual that spoke out against Ruskin, remarking that Ruskin had begun to overstep his bounds as an art critic, becoming tyrannical in his diction – so much so that to see him brought to court over his offensive words was perceived as a delight. It has been suggested John Ruskin suffered from CADASIL syndrome and the visual disturbances this condition caused him might have been a factor in his irritation at this particular painting.

[lilnasxvevo]

mouth-of-god-fist-of-bone replied to your post: Every time Nocturne in Black and Gold appears on...

im sorry i think this is about art history but i have no context and im so confused??????? pls explain???

Sure thing!

John Ruskin was a very very very popular art critic in the 1800s. James McNeill Whistler was an artist and also an inveterate boundary-pusher and also kind of a little shit and snotty upstart (I love him). Whistler painted a picture called “Nocturne in Black and Gold - The Falling Rocket” which was very different from other paintings being made at the time and also went against everything that Ruskin thought art should be. (A wee side note here that I can’t find a source for but that I remember reading is that people didn’t like that Whistler was calling his paintings nocturnes, because “nocturne” is a word that refers to a piece of music. 

Ruskin publicly insulted the painting as being “a pot of paint thrown in the public’s face,” which caused Whistler’s reputation as an artist to suffer greatly and really affected him financially. Whistler sued Ruskin for libel, and the trial turned into kind of a farce because basically if Ruskin proved that Whistler did actually suck, then it wouldn’t be libel and Ruskin would be off the hook. Happenings at the trial involved the people charged with handling evidence accidentally carrying The Falling Rocket into the courtroom upside down, which was embarrassing for Whistler. They also brought in a few paintings by painters widely considered great at the time (probably reproductions?), and at one point people got confused and I forget which but either someone thought a painting by a great painter was Whistler’s or vice versa, which was awkward for everyone involved.

The jury eventually reluctantly ruled in favor of Whistler, but he was awarded a farthing for his troubles, which was the smallest possible amount of money they could legally give him.

John Ruskin may have had CADASIL. A more in-depth description of the symptoms he had that are associated with CADASIL and how they affected his work can be found here.

There’s a vulgar old story that I would say probably isn’t true that Ruskin was disgusted with his wife on their wedding night because he didn’t know women had pubic hair. It is usually the very first thing that comes to most people’s minds when they hear “John Ruskin,” which is unfortunate. I don’t want to talk about it anymore but the article covers everything I would want someone to know about that.