Familial amyloid polyneuropathy

Planté‐Bordeneuve, Violaine; Saïd, Gérard

doi:10.1016/s1474-4422(11)70246-0

Cited by 542 publications

(542 citation statements)

References 91 publications

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“…1, 3 Progressive amyloid deposition can induce restrictive cardiomyopathy, episodes of arrhythmia, and severe conduction disorders, including atrioventricular block with faintness, syncope, or result in sudden death. 1, 4 Cardiac magnetic resonance imaging (CMR) using lategadolinium enhancement (LGE) assists the diagnosis of cardiac involvement in patients with systemic amyloidosis. 5 The assessment by LGE is important because LGE is strongly associated with clinical, morphological, functional and biochemical markers that help to evaluate the prognosis of patients with cardiac amyloidosis.…”

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confidence: 99%

Identification and Assessment of Cardiac Amyloidosis by Myocardial Strain Analysis of Cardiac Magnetic Resonance Imaging

Oda

Utsunomiya

Nakaura

et al. 2017

Circ J

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Background:We explored the usefulness of myocardial strain analysis on cardiac magnetic resonance imaging (CMR) scans for the identification of cardiac amyloidosis. Methods and Results:The 61 patients with systemic amyloidosis underwent 3.0-T CMR, including CMR tagging and late-gadolinium enhanced (LGE) imaging. The circumferential strain (CS) of LGE-positive and LGE-negative patients was measured on midventricular short-axis images and compared. Logistic regression modeling of CMR parameters was performed to detect patients with LGE-positive cardiac amyloidosis. Of the 61 patients with systemic amyloidosis 48 were LGE-positive and 13 were LGE-negative. The peak CS was significantly lower in the LGE-positive than in the LGE-negative patients (−9.5±2.3 vs. −13.3±1.4%, P<0.01). The variability in the peak CS time was significantly greater in the LGE-positive than in the LGE-negative patients (46.1±24.5 vs. 21.2±20.1 ms, P<0.01). The peak CS significantly correlated with clinical biomarkers. The sensitivity, specificity, and accuracy of the diagnostic model using CS parameters for the identification of LGE-positive amyloidosis were 93.8%, 76.9%, and 90.2%, respectively. Conclusions:Myocardial strain analysis by CMR helped detect LGE-positive amyloidosis without the need for contrast medium. The peak CS and variability in the peak CS time may correlate with the severity of cardiac amyloid deposition and may be more sensitive than LGE imaging for the detection of early cardiac disease in patients with amyloidosis.

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confidence: 99%

Identification and Assessment of Cardiac Amyloidosis by Myocardial Strain Analysis of Cardiac Magnetic Resonance Imaging

Oda

Utsunomiya

Nakaura

et al. 2017

Circ J

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“…Diarrhea in these patients has multiple potential causes and may be caused by autonomic denervation of the bowel; alternatively, abnormal prion protein may have direct toxic effects on the mucosa causing malabsorption, bacterial over-growth, or gastroparesis, as described in familial amyloid polyneuropathy. 27 Presentation with diarrhea led to invasive investigations or surgery in several patients, with concomitant potential for iatrogenic transmission of prions from the gut through contamination of medical or surgical instruments. 28 It is reassuring, however, that murine studies did not show experimental transmissibility, although this finding does not completely rule out the presence of potentially infectious human prions.…”

Section: Discussionmentioning

confidence: 99%

A Novel Prion Disease Associated with Diarrhea and Autonomic Neuropathy

2014

N Engl J Med

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BACKGROUND-Human prion diseases, although variable in clinicopathological phenotype, generally present as neurologic or neuropsychiatric conditions associated with rapid multi-focal central nervous system degeneration that is usually dominated by dementia and cerebellar ataxia. Approximately 15% of cases of recognized prion disease are inherited and associated with coding mutations in the gene encoding prion protein (PRNP). The availability of genetic diagnosis has led to a progressive broadening of the recognized spectrum of disease.

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“…Transthyretin familial amyloid polyneuropathy (TTR-FAP), a rare but life-threatening disease, is the most common form of inherited amyloidosis 80 . Early diagnosis is crucial for initiation of diseasemodifying therapies 81 , and a study published in 2015 suggests that high-resolution 3T MRN can be used to help with early diagnosis 82 .…”

Section: Inflammatory and Inherited Neuropathiesmentioning

confidence: 99%

New technologies for the assessment of neuropathies

et al. 2017

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Peripheral neuropathies are among the most common neurological disorders 1 . In routine clinical practice, diagnosis of peripheral neuropathies is typically based on clinical assessment, nerve conduction studies and needle electromyography, which can determine whether symptoms are caused by primary axonal damage or demyelinating damage. This distinction is often relevant to therapeutic choices and to prognosis, as axonal damage typically reflects an inflammatory (for example, vasculitic) or degenerative (for example, hereditary or idiopathic) process that correlates with disability, whereas demyelinating damage can reflect a hereditary neuro pathy, but more often reflects an acquired immunemediated neuropathy. Besides metabolic, inflammatory or primary degenerative neuropathies, peripheral nerves can also be damaged by compression from adjacent tissue structures, such as tendons, cysts or haematomas. In this case, proper identification of the site, nature and degree of the lesion might be challenging, but is relevant to treatment and prognosis. Moreover, some patients present with symptoms that suggest damage to small nerve fibres, which nerve conduction studies cannot be used to detect.In the past 15 years, several techniques have become available to investigate focal and diffuse peripheral neuropathies, and their reliability has widened the spectrum of diagnostic tools for clinicians and improved assessment of neuropathies. In this Review, we provide an overview of these new and emerging technologies. We first discuss peripheral nerve imaging with MRI and ultrasonography, which can provide information about the precise localization of neuro pathies and the pathological processes involved in large-fibre neuropathies, and can complement clinical and electrophysiological evaluation. We then consider techniques that can provide diagnostic information when the pathological process is restricted to small nerve fibres and is consequently not detectable with nerve conduction studies or neuroimaging. These include skin biopsy, which is established in clinical practice, and the emerging techniques of corneal confocal microscopy, laser-evoked potentials and heat-related and pain-related evoked potentials, and microneurography.Nerve imaging technology Advances in imaging techniques have made it possible to gain great insight into nerve pathology with magnetic resonance and ultrasound. Each approach offers distinct advantages, and can provide different information about damage to large myelinated fibres. Abstract | Technical advances are rapidly changing the clinical and instrumental approach to peripheral nerve diseases. Magnetic resonance neurography, diffusion tensor imaging and nerve ultrasonography are increasingly entering the diagnostic workup of peripheral neuropathies as tools that complement neurophysiology and enable investigation of proximal structures, such as plexuses and roots. Progress in the design of magnetic resonance scanners and sequences, and the development of high-frequency ultrasound probes mean th...

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Familial amyloid polyneuropathy

Cited by 542 publications

References 91 publications

Identification and Assessment of Cardiac Amyloidosis by Myocardial Strain Analysis of Cardiac Magnetic Resonance Imaging

Identification and Assessment of Cardiac Amyloidosis by Myocardial Strain Analysis of Cardiac Magnetic Resonance Imaging

A Novel Prion Disease Associated with Diarrhea and Autonomic Neuropathy

New technologies for the assessment of neuropathies

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