FBD is caused by a stop to Arg mutation in the BRI2 gene, generating de novo created amyloid molecule ABri which accumulates in FBD brains but is not present in the normal population. [ncbi.nlm.nih.gov]

These TFNS are classically described as recurrent, stereotyped, spreading paraesthesias lasting several minutes but there is a wide spectrum of presentations encompassing both positive (spreading paraesthesia or visual symptoms) and negative (paresis, [radiopaedia.org]

Amyloid and Related Disorders presents an overview of the most recent developments in this area including clinical presentation, etiology, pathogenesis, and differential diagnosis. [link.springer.com]

A simplified overview is presented below. [amyloid.nl]

Presentation on theme: "Plasma cell dyscrasia and renal amyloidosis: What we can learn from basic science Per Westermark Rudbeck Laboratory Uppsala University, Sweden. [slideplayer.com]

• Progressive Dementia

  dementia (Revesz et al., 2003; pubmed: 14533778). [flybase.org]

  Showing of 8 Percent of people who have these symptoms is not available through HPO Autosomal dominant inheritance 0000006 Cerebral amyloid angiopathy 0011970 Dementia Dementia, progressive Progressive dementia [ more ] 0000726 Hypertonia 0001276 Progressive [rarediseases.info.nih.gov]

  Both conditions are distinguished by progressive dementia, spasticity and cerebellar ataxia with a neuropathology remarkably similar to that seen in AD, including amyloid deposition in the cerebral vessels, the presence of neuritic, non-neuritic and perivascular [nature.com]

  The first symptom of CJD is rapidly progressive dementia, leading to memory loss, personality changes, and hallucinations. Sporadic (non-inherited) CJD can be fatal within months or even weeks. [bitanlab.neurology.ucla.edu]

• Asymptomatic

  While often asymptomatic, CAA may lead to dementia, intracranial hemorrhage, or transient neurologic events. [, 2017.07.14] Specific Disease Summary: cerebral amyloid angiopathy, ITM2B-related Cellular phenotype and pathology Molecular information ITM2B [flybase.org]

  Sporadic CAA Cerebral amyloid angiopathy is a frequent incidental finding, found on screening gradient-recalled echo imaging in up to 16% of asymptomatic elderly patients 4. [radiopaedia.org]

• Episodic Weakness

  Weakness 464 Case 73B An African American Man with Hyperthyroidism and Acute Paralysis 470 Case 74 A Boy with Large Muscles Leg Pain and Elevated Serum Creatine Kinase 472 Case 75 A Woman with Proximal Muscle Weakness Calf Hypertrophy Heel Contractures [books.google.de]

• Short Stature

  Stature Small Jaw Muscle Hypertrophy and Stiffness 609 Case 99 An Elderly Woman with Muscle Spasms 612 Case 100 A Woman with Proximal Muscle Weakness and Neuromuscular Irritability 616 Case 101 A Woman with Focal Spontaneous Muscle Movements 620 Index [books.google.de]

• Difficulty Walking

  Walking and Ataxia 415 Case 66 A Man with Progressive Neuropathy and Congestive Heart Failure 422 Case 67 An Elderly Woman with a Progressive Neuropathy 429 Case 68 A Young Woman with Difficulty Swallowing 433 Case 69 A Young Woman with Intermittent [books.google.de]

• Skin Rash

  Rash 559 Case 90 A Man with Muscle Pains 567 Case 91 An Older Woman with Progressive Muscle Weakness 572 Case 92 An HIVInfected Man with Muscle Weakness and Spasms 577 Case 93 A Woman with Limb Swelling and Pain 581 Case 94 A Man with a Bent Spine 584 [books.google.de]

• Diplopia

  An Older Woman with Progressive Muscle Weakness 572 Case 92 An HIVInfected Man with Muscle Weakness and Spasms 577 Case 93 A Woman with Limb Swelling and Pain 581 Case 94 A Man with a Bent Spine 584 Case 95 A Man with Muscle Stiffness and Later with Diplopia [books.google.de]

• Proximal Muscle Weakness

  Muscle Weakness 533 Case 85 A Sedentary Man with Acute Respiratory Failure and Myoglobinuria 539 Case 86 A Uremic Man with Proximal Muscle Weakness 545 Case 87 A Woman with Weakness Elevated Cholesterol and Serum Creatine Kinase Levels 550 Case 88 An [books.google.de]

  In elderly patients with renal insufficiency,colchicine can cause a myoneuropathy characterized by proximal muscle weakness and elevation of the creatine kinase.Cyclosporine inhibits hepatic excretion of colchicine by its effects on the MDR-1 transport [what-when-how.com]

• Muscle Weakness

  Woman with Leg Weakness and Atrophic Muscle Fibers on Biopsy 554 Case 89A A Woman with Muscle Weakness and a Skin Rash 559 Case 90 A Man with Muscle Pains 567 Case 91 An Older Woman with Progressive Muscle Weakness 572 Case 92 An HIVInfected Man with [books.google.de]

  In elderly patients with renal insufficiency,colchicine can cause a myoneuropathy characterized by proximal muscle weakness and elevation of the creatine kinase.Cyclosporine inhibits hepatic excretion of colchicine by its effects on the MDR-1 transport [what-when-how.com]

• Muscle Cramp

  Cramps and Fasciculations 594 Case 97 A Man with Large and Stiff Muscles 601 Case 98 A Boy with Short Stature Small Jaw Muscle Hypertrophy and Stiffness 609 Case 99 An Elderly Woman with Muscle Spasms 612 Case 100 A Woman with Proximal Muscle Weakness [books.google.de]

  cramps and progressive weakness due to degeneration of motor neurons in the brain stem and spinal cord. [bitanlab.neurology.ucla.edu]

• Foot Deformity

  Deformities 510 Case 81 A Woman with Droopy Eyelids and Ophthalmoplegia 515 Case 82 A Man with Weakness and Swelling in the Neck 522 Case 83 A Woman with Muscle Pains and Dark Urine 526 Case 84 A Woman with Progressive Proximal Muscle Weakness 533 Case [books.google.de]

• Calf Hypertrophy

  Hypertrophy Heel Contractures and Elevated Serum Creatine Kinase 480 Case 76 A Young Man with Distal Leg Wasting and Normal Sensation 484 Case 77 A Woman with Droopy Eyelids and Difficulty Swallowing 493 Case 78 A Man with Facial and Shoulder Muscle [books.google.de]

• Dark Urine

  […] and Later Contractures 503 Case 80 A Woman with Longstanding Weakness and Foot Deformities 510 Case 81 A Woman with Droopy Eyelids and Ophthalmoplegia 515 Case 82 A Man with Weakness and Swelling in the Neck 522 Case 83 A Woman with Muscle Pains and Dark [books.google.de]

• Headache

  […] cerebroarterial amyloidosis, refers to a pathologic process in which amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, recurrent headaches [flybase.org]

  Other manifestations of CAA, which are discussed separately, include: cerebral amyloid angiopathy-related inflammation : an inflammatory reaction that presents rapidly-progressive cognitive performance, seizures, headache and stroke-like episodes (without [radiopaedia.org]

  FCAS patients develop chills, fever, headache, arthralgia, conjunctivitis, and an urticarialike rash in response to generalized cold exposure. [what-when-how.com]

• Foot Drop

  Case 58A A Woman with Leg Numbness Pain Weakness and Slow Nerve Conduction Velocities 372 Case 58B A Boy with Leg Weakness 375 Case 59 A Man with Hand Weakness and Numbness After Skiing 383 Case 60 A Man with Recurrent Foot Drop 386 Case 61 An Elderly [books.google.de]

• Irritability

  Fasciculations 594 Case 97 A Man with Large and Stiff Muscles 601 Case 98 A Boy with Short Stature Small Jaw Muscle Hypertrophy and Stiffness 609 Case 99 An Elderly Woman with Muscle Spasms 612 Case 100 A Woman with Proximal Muscle Weakness and Neuromuscular Irritability [books.google.de]

• Areflexia

  67 An Elderly Woman with a Progressive Neuropathy 429 Case 68 A Young Woman with Difficulty Swallowing 433 Case 69 A Young Woman with Intermittent Weakness and a Positive Family History of Similar Problems 436 Case 70 A Woman with Muscle Weakness and Areflexia [books.google.de]

• Recurrent Headache

  headaches, ischemic lesions, hemorrhagic strokes, and progressive dementia (Revesz et al., 2003; pubmed: 14533778). [flybase.org]

• Slow Nerve Conduction Velocities

  Case 58A A Woman with Leg Numbness Pain Weakness and Slow Nerve Conduction Velocities 372 Case 58B A Boy with Leg Weakness 375 Case 59 A Man with Hand Weakness and Numbness After Skiing 383 Case 60 A Man with Recurrent Foot Drop 386 Case 61 An Elderly [books.google.de]

However, the diagnosis requires a sample of an affected organ. [4] [7] Treatment The most effective treatment is autologous bone marrow transplants with stem cell rescues. [ipfs.io]

Effective treatment of the underlying inflammatory condition has reduced incidence in developed countries. [perthhaematology.com.au]

[…] standard of care includes treatments for the underlying inflammatory disease with anti-inflammatory drugs, immunosuppressive agents or biologics. [en.wikipedia.org]

TREATMENT The treatment of cardiac amyloidosis has two facets: on the one hand, the treatment of cardiac symptoms and, on the other hand, the treatment of the underlying disease which produces the amyloid protein. [revespcardiol.org]

The prognosis does not appear to be related to the degree of the proteinuria. Treatment by peritoneal dialysis or hemodialysis or kidney transplantation improves the prognosis considerably. Hypertension is rare, except in long-standing amyloidosis. [perthhaematology.com.au]

[ edit ] Prognosis varies with the type of amyloidosis. [en.wikipedia.org]

PROGNOSIS • Prognosis with generalized amyloidosis is poor. • those with AL amyloidosis have a median survival rate of 2 years after diagnosis. 60. [de.slideshare.net]

Cardiac involvement decides the prognosis. [revespcardiol.org]

[…] weak to tolerate this approach. [8] [9] Other treatments can involve application of chemotherapy similar to that used in multiple myeloma. [9] A combination of bortezomib and dexamethasone has been proposed, [10] as has melphalan and dexamethasone. [8] Prognosis [ipfs.io]

Amyloid and Related Disorders presents an overview of the most recent developments in this area including clinical presentation, etiology, pathogenesis, and differential diagnosis. [link.springer.com]

[…] appreciated 25 MRI: curvilinear regions of signal drop-out localized to one of more sulci best seen on T2* sequences (GRE, echo-planar, SWI) 9,25 ischemia ischemic leukoencephalopathy chronic lesions, indistinguishable from leukoaraiosis due to other etiologies [radiopaedia.org]

Noninvasive etiologic diagnosis of cardiac amyloidosis using 99m Tc-3,3-diphosphono-1,2-propanodicarboxylic acid scintigraphy. J Am Coll Cardiol. 2005;46:1076-84. Medline 66. [revespcardiol.org]

New chapters on glomerulonephritis associated with complement disorders, interventional treatments for hypertension, renal disease and cancer, and epidemiology and prognostic impact of acute kidney injury. [books.google.de]

"Systemic AA amyloidosis: epidemiology, diagnosis, and management". Clinical Epidemiology. 6 : 369–77. doi : 10.2147/CLEP.S39981. PMC 4218891. PMID 25378951. a b "AA (Inflammatory) Amyloidosis". Medscape Reference. "AA Amyloidosis". [en.wikipedia.org]

[…] bortezomib and dexamethasone has been proposed, [10] as has melphalan and dexamethasone. [8] Prognosis Median survival for patients diagnosed with AL amyloidosis was 13 months in the early 1990s, but had improved to c. 40 months a decade later. [11] Epidemiology [ipfs.io]

Epidemiologic characteristics of primary amyloidosis, that is, amyloidosis without overt immunoproliferative disease, and myeloma are not significantly different. [abdominalkey.com]

For example, apolipoprotein E is reportedly a common constituent of amyloid deposits, and epidemiologic studies have shown an increased risk of Alzheimer disease among white persons carrying the 4 allele of apolipoprotein E. [humpath.com]

"Amyloidosis and silicone synovitis: Updated classification, updated pathophysiology, and synovial articular abnormalities". Radiologic clinics of North America. 34 (2): 375–94, xi. PMID 8633122. [en.wikipedia.org]

[…] random distribution fat embolism syndrome 'starfield' pattern of distribution lesions also show restricted diffusion on DWI and are likely visible on other sequences radiation induced vasculopathy microhemorrhages have a very similar appearance (similar pathophysiology [radiopaedia.org]

The disease has no effective therapy and the mechanisms responsible for pathophysiology are not well understood. Mutations linked to familial ALS have been helpful in exploring the processes that cause the disease. [bitanlab.neurology.ucla.edu]

Despite their biochemical and clinical differences, the various amyloidoses share common pathophysiologic features: a precursor substance in appropriate concentration; appropriate host genetic background; abnormalities in proteolysis of fibril precursors [perthhaematology.com.au]

Several of these small-molecule inhibitors efficiently prevent TTR amyloid fibril formation in vitro, and are being tested for their in vivo activity. [nature.com]

Bri23 peptide prevents aggregation of APP amyloid-beta protein 42 into toxic oligomers. [uniprot.org]

The structures produced in these studies will guide in the development of inhibitors to prevent amyloid formation in Alzheimer's disease. [case.edu]

N-linked, glycosylation can prevent glycoprotein folding and full inhibition can be toxic to an individual cell. [wikivisually.com]

Colchicine has been shown to be effective in preventing acute attacks and amyloidosis in patients with FMF. The major causes of death are heart disease and renal failure. Sudden death, presumably due to arrhythmias, is common. [perthhaematology.com.au]