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Familial amyloid neuropathy(FAP)

MedGen UID:
414031
Concept ID:
C2751492
Disease or Syndrome
Synonyms: AMYLOID CARDIOMYOPATHY; Amyloid polyneuropathy transthyretin related; Amyloidosis Transthyretin related; AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED; Familial amyloid polyneuropathy; Familial Amyloid Polyneuropathy Type 1(Portuguese-Swedish-Japanese type); Familial Amyloid Polyneuropathy Type II (Indiana/Swiss or Maryland/German type); Familial Transthyretin Amyloidosis; Hereditary oculoleptomeningeal amyloid angiopathy; Transthyretin amyloidosis; TTR amyloid neuropathy
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): TTR (18q12.1)
 
OMIM®: 105210
Orphanet: ORPHA85447

Disease characteristics

Excerpted from the GeneReview: Hereditary Transthyretin Amyloidosis
Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. The disease usually begins in the third to fifth decade in persons from endemic foci in Portugal and Japan; onset is later in persons from other areas. Typically, sensory neuropathy starts in the lower extremities with paresthesias and hypesthesias of the feet, followed within a few years by motor neuropathy. In some persons, particularly those with early-onset disease, autonomic neuropathy is the first manifestation of the condition; findings can include: orthostatic hypotension, constipation alternating with diarrhea, attacks of nausea and vomiting, delayed gastric emptying, sexual impotence, anhidrosis, and urinary retention or incontinence. Cardiac amyloidosis is mainly characterized by progressive cardiomyopathy. Individuals with leptomeningeal amyloidosis may have the following CNS findings: dementia, psychosis, visual impairment, headache, seizures, motor paresis, ataxia, myelopathy, hydrocephalus, or intracranial hemorrhage. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  GeneReview Scope  |  Diagnosis  |  Clinical Characteristics  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  Chapter Notes  |  References
Authors:
Yoshiki Sekijima   view full author information

Additional descriptions

From OMIM
Hereditary amyloidoses are a clinically and genetically heterogeneous group of autosomal dominantly inherited diseases characterized by the deposit of unsoluble protein fibrils in the extracellular matrix (summary by Hund et al., 2001). Patients with transthyretin amyloidosis typically present with polyneuropathy, carpal tunnel syndrome, autonomic insufficiency, cardiomyopathy, and gastrointestinal features, occasionally accompanied by vitreous opacities and renal insufficiency. In later stages of the disease severe diarrhea with malabsorption, cachexia, incapacitating neuropathy, severe cardiac disturbances, and marked orthostatic hypotension dominate the clinical picture. Death usually occurs 5 to 15 years after onset of symptoms. Before the emergence of molecular genetics, hereditary amyloidoses were classified into 4 subtypes according to symptom constellation and ethnic origin (summary by Hund et al., 2001). The course of disease beginning with sensorimotor polyneuropathy that starts in early adulthood symmetrically at the legs and progresses rather rapidly to incapacitate the patient within a few years has been labeled familial amyloid polyneuropathy type I (FAP I), also known as Portuguese, Portuguese-Swedish-Japanese, or Andrade type. FAP I can be considered the prototype of the manifestation of hereditary TTR amyloidosis. The overwhelming majority of cases of FAP I result from a val30-to-met (V30M; 176300.0001) substitution. A course of disease with neuropathy beginning at the hands and frequent carpal tunnel operations has been designated FAP II, also known as the Indiana/Swiss (176300.0006) or Maryland/German (176300.0003) type. Vitreous opacities occur early in the disease course, whereas impotence and renal insufficiency are rare. Amyloidosis due to mutations in the APOA1 gene (107650) has been referred to as FAP III or Iowa type (see 105200 and 107680.0010). The Finnish type of amyloidosis (105120) has been referred to as FAP IV and is caused by mutations in gelsolin (137350). Systems based on clinical phenotypes have historically been used to classify the amyloidoses, but emphasis on the characterization of the amyloid fibril protein has proved more useful (Saraiva, 2002). In addition to hereditary amyloidosis, 2 other major forms of systemic amyloidosis exist. Immunoglobulin (AL) amyloidosis, formerly known as primary amyloidosis, is caused by the accumulation of monoclonal immunoglobulin (Ig) light chains as amyloid fibrils. Reactive (AA) amyloidosis, formerly known as secondary amyloidosis, is associated with chronic inflammatory diseases (e.g., rheumatoid arthritis, 180300; familial Mediterranean fever, 249100), and fibrils are derived from the circulating acute-phase reactant serum amyloid A protein (see 104750). Ando et al. (2005) provided a review of transthyretin-related familial amyloid polyneuropathy. The authors stated that the phenotypes can be classified into neuropathic, oculoleptomeningeal, and cardiac.  http://www.omim.org/entry/105210
From MedlinePlus Genetics
Transthyretin amyloidosis is a progressive condition characterized by the buildup of abnormal protein deposits called amyloids (amyloidosis) in the body's organs and tissues. These protein deposits most frequently occur in the peripheral nervous system, which is made up of nerves that connect the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound. Protein deposits in these nerves result in a loss of sensation or in muscle weakness in the extremities (peripheral neuropathy). The autonomic nervous system, which controls involuntary body functions such as blood pressure, heart rate, and digestion, may also be affected by amyloidosis. In some cases, the brain and spinal cord (central nervous system) are affected. Other areas of amyloidosis include the heart, kidneys, eyes, and gastrointestinal tract. The age at which symptoms begin to develop varies widely among individuals with this condition, typically ranging from age 20 to 70.

There are two major forms of transthyretin amyloidosis, which are distinguished by their symptoms and the body systems they affect.

The neuropathic form of transthyretin amyloidosis primarily affects the peripheral and autonomic nervous systems, resulting in peripheral neuropathy and difficulty controlling bodily functions. Impairments to bodily functions can include sexual impotence, diarrhea, constipation, problems with urination, and a sharp drop in blood pressure upon standing (orthostatic hypotension). Some people experience heart and kidney problems as well. Various eye problems may occur, such as cloudiness of the clear gel that fills the eyeball (vitreous opacity), dry eyes, increased pressure in the eyes (glaucoma), or pupils with an irregular or "scalloped" appearance. Some people with this form of transthyretin amyloidosis develop carpal tunnel syndrome, which is characterized by numbness, tingling, and weakness in the hands and fingers.

The cardiac form of transthyretin amyloidosis affects the heart. People with cardiac amyloidosis may have an abnormal heartbeat (arrhythmia), an enlarged heart (cardiomegaly), or orthostatic hypertension. These abnormalities can lead to progressive heart failure and death. Occasionally, people with the cardiac form of transthyretin amyloidosis have mild peripheral neuropathy.

A less common form of transthyretin amyloidosis, called the leptomeningeal form, primarily affects the central nervous system. In people with this form, amyloidosis occurs in the leptomeninges, which are two thin layers of tissue that cover the brain and spinal cord. A buildup of proteins in this tissue can cause stroke and bleeding in the brain, an accumulation of fluid in the brain (hydrocephalus), difficulty coordinating movements (ataxia), muscle stiffness and weakness (spastic paralysis), seizures, and loss of intellectual function (dementia). Eye problems similar to those seen in the neuropathic form of transthyretin amyloidosis may also occur; people with leptomeningeal transthyretin amyloidosis who have these eye problems are said to have the oculoleptomeningeal form.  https://medlineplus.gov/genetics/condition/transthyretin-amyloidosis

Clinical features

From HPO
Urinary incontinence
MedGen UID:
22579
Concept ID:
C0042024
Finding
Loss of the ability to control the urinary bladder leading to involuntary urination.
Impotence
MedGen UID:
1720680
Concept ID:
CN208474
Finding
Inability to develop or maintain an erection of the penis.
Cardiomegaly
MedGen UID:
5459
Concept ID:
C0018800
Finding
Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography.
Cardiomyopathy
MedGen UID:
209232
Concept ID:
C0878544
Disease or Syndrome
A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.
Stroke-like episode
MedGen UID:
346558
Concept ID:
C1857287
Finding
No consensus exists on what a stroke-like episode is, but these episodes can be functionally defined as a new neurological deficit, occurring with or without the context of seizures, which last longer than 24 hours.
Constipation
MedGen UID:
1101
Concept ID:
C0009806
Sign or Symptom
Infrequent or difficult evacuation of feces.
Diarrhea
MedGen UID:
8360
Concept ID:
C0011991
Sign or Symptom
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.
Episodic vomiting
MedGen UID:
333228
Concept ID:
C1838993
Finding
Paroxysmal, recurrent episodes of vomiting.
Sensorineural hearing impairment
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Anxiety
MedGen UID:
1613
Concept ID:
C0003467
Finding
Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.
Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Confusion
MedGen UID:
3587
Concept ID:
C0009676
Mental or Behavioral Dysfunction
Lack of clarity and coherence of thought, perception, understanding, or action.
Dysarthria
MedGen UID:
8510
Concept ID:
C0013362
Mental or Behavioral Dysfunction
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Abnormal autonomic nervous system physiology
MedGen UID:
8511
Concept ID:
C0013363
Disease or Syndrome
A functional abnormality of the autonomic nervous system.
Hallucinations
MedGen UID:
6709
Concept ID:
C0018524
Mental or Behavioral Dysfunction
Perceptions in a conscious and awake state that, in the absence of external stimuli, have qualities of real perception. These perceptions are vivid, substantial, and located in external objective space.
Headache
MedGen UID:
9149
Concept ID:
C0018681
Sign or Symptom
Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.
Hemiparesis
MedGen UID:
6783
Concept ID:
C0018989
Finding
Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength.
Spasticity
MedGen UID:
7753
Concept ID:
C0026838
Sign or Symptom
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Paraplegia
MedGen UID:
45323
Concept ID:
C0030486
Disease or Syndrome
Severe or complete weakness of both lower extremities with sparing of the upper extremities.
Peripheral neuropathy
MedGen UID:
18386
Concept ID:
C0031117
Disease or Syndrome
Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Spastic paraparesis
MedGen UID:
52432
Concept ID:
C0037771
Sign or Symptom
Mild or moderate loss of motor function accompanied by spasticity in the lower extremities. This condition is a manifestation of CENTRAL NERVOUS SYSTEM DISEASES that cause injury to the motor cortex or descending motor pathways.
Tremor
MedGen UID:
21635
Concept ID:
C0040822
Sign or Symptom
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
Hyperreflexia
MedGen UID:
57738
Concept ID:
C0151889
Finding
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
Polyneuropathy
MedGen UID:
57502
Concept ID:
C0152025
Disease or Syndrome
A generalized disorder of peripheral nerves.
Auditory hallucination
MedGen UID:
115932
Concept ID:
C0233762
Sign or Symptom
Perception of sounds without auditory stimulus.
Abnormal pyramidal sign
MedGen UID:
68582
Concept ID:
C0234132
Sign or Symptom
Functional neurological abnormalities related to dysfunction of the pyramidal tract.
Positive Romberg sign
MedGen UID:
66017
Concept ID:
C0240914
Finding
The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception.
Truncal ataxia
MedGen UID:
96535
Concept ID:
C0427190
Sign or Symptom
Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting.
Dementia
MedGen UID:
99229
Concept ID:
C0497327
Mental or Behavioral Dysfunction
A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.
Hyporeflexia
MedGen UID:
195967
Concept ID:
C0700078
Finding
Reduction of neurologic reflexes such as the knee-jerk reaction.
Limb ataxia
MedGen UID:
196692
Concept ID:
C0750937
Finding
A kind of ataxia that affects movements of the extremities.
Peripheral axonal neuropathy
MedGen UID:
266071
Concept ID:
C1263857
Disease or Syndrome
An abnormality characterized by disruption of the normal functioning of peripheral axons.
Increased CSF protein concentration
MedGen UID:
329971
Concept ID:
C1806780
Finding
Increased concentration of protein in the cerebrospinal fluid.
Orthostatic hypotension due to autonomic dysfunction
MedGen UID:
358344
Concept ID:
C1868528
Finding
Constrictive median neuropathy
MedGen UID:
868610
Concept ID:
C4023009
Anatomical Abnormality
Injury to the median nerve caused by its entrapment at the wrist as it traverses through the carpal tunnel. Clinically, constrictive median neuropathy is characterized by pain, paresthesia, and weakness in the median nerve distribution of the hand.
Intention tremor
MedGen UID:
1642960
Concept ID:
C4551520
Sign or Symptom
A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger).
Leptomeningeal enhancement
MedGen UID:
1671079
Concept ID:
C4732837
Anatomical Abnormality
Contrast material enhancement of the pia mater or enhancement that extends into the subarachnoid spaces of the sulci and cisterns is leptomeningeal enhancement. Leptomeningeal enhancement is usually associated with meningitis, which may be bacterial, viral, or fungal. The primary mechanism of this enhancement is breakdown of the blood-brain barrier without angiogenesis.
Muscle weakness
MedGen UID:
57735
Concept ID:
C0151786
Finding
Reduced strength of muscles.
Pulmonary edema
MedGen UID:
11026
Concept ID:
C0034063
Pathologic Function
Fluid accumulation in the lungs.
Amyloidosis
MedGen UID:
272
Concept ID:
C0002726
Disease or Syndrome
The presence of amyloid deposition in one or more tissues. Amyloidosis may be defined as the extracellular deposition of amyloid in one or more sites of the body.
Facial tics
MedGen UID:
124458
Concept ID:
C0278151
Finding
Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face.
Ptosis
MedGen UID:
2287
Concept ID:
C0005745
Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Diplopia
MedGen UID:
41600
Concept ID:
C0012569
Disease or Syndrome
Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
High myopia
MedGen UID:
78759
Concept ID:
C0271183
Disease or Syndrome
A severe form of myopia with greater than -6.00 diopters.
Horizontal nystagmus
MedGen UID:
124399
Concept ID:
C0271385
Disease or Syndrome
Nystagmus consisting of horizontal to-and-fro eye movements.
Vertical nystagmus
MedGen UID:
75749
Concept ID:
C0271386
Disease or Syndrome
Vertical nystagmus may present with either up-beating or down-beating eye movements or both. When present in the straight-ahead position of gaze it is referred to as upbeat nystagmus or downbeat nystagmus.
Visual impairment
MedGen UID:
777085
Concept ID:
C3665347
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
Amyloid deposition in the vitreous humor
MedGen UID:
870340
Concept ID:
C4024784
Finding
Deposition of hyaline extracellular material (amyloid) into the vitreous humor, which can manifest as vitreous opacities and reduced visual acuity.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial amyloid neuropathy

Professional guidelines

PubMed

Corcia P, Blasco H, Beltran S, Piegay AS, Vourc'h P
Rev Neurol (Paris) 2023 Jan-Feb;179(1-2):54-60. Epub 2022 Nov 3 doi: 10.1016/j.neurol.2022.09.001. PMID: 36336493
Wixner J, Suhr OB, Anan I
Expert Rev Gastroenterol Hepatol 2018 Jan;12(1):73-81. Epub 2017 Nov 20 doi: 10.1080/17474124.2018.1397511. PMID: 29073801

Suggested Reading

PubMed

Berk JL, Suhr OB, Obici L, Sekijima Y, Zeldenrust SR, Yamashita T, Heneghan MA, Gorevic PD, Litchy WJ, Wiesman JF, Nordh E, Corato M, Lozza A, Cortese A, Robinson-Papp J, Colton T, Rybin DV, Bisbee AB, Ando Y, Ikeda S, Seldin DC, Merlini G, Skinner M, Kelly JW, Dyck PJ; Diflunisal Trial Consortium
JAMA 2013 Dec 25;310(24):2658-67. doi: 10.1001/jama.2013.283815. PMID: 24368466Free PMC Article

Recent clinical studies

Etiology

Lebray P, Varnous S
Clin Res Hepatol Gastroenterol 2019 Apr;43(2):123-130. Epub 2019 Jan 8 doi: 10.1016/j.clinre.2018.08.009. PMID: 30635235
Wixner J, Törnblom H, Karling P, Anan I, Lindberg G
Neurogastroenterol Motil 2018 Sep;30(9):e13354. Epub 2018 Apr 14 doi: 10.1111/nmo.13354. PMID: 29655299
Saporta MA
Continuum (Minneap Minn) 2014 Oct;20(5 Peripheral Nervous System Disorders):1208-25. doi: 10.1212/01.CON.0000455885.37169.4c. PMID: 25299278
Telles-Correia D, Cortez-Pinto H, Barbosa A, Mega I, Monteiro E
BMC Gastroenterol 2009 Jul 15;9:54. doi: 10.1186/1471-230X-9-54. PMID: 19604387Free PMC Article
Nelson GA, Edward DP, Wilensky JT
Ophthalmology 1999 Jul;106(7):1363-6. doi: 10.1016/S0161-6420(99)00726-5. PMID: 10406623

Diagnosis

Corcia P, Blasco H, Beltran S, Piegay AS, Vourc'h P
Rev Neurol (Paris) 2023 Jan-Feb;179(1-2):54-60. Epub 2022 Nov 3 doi: 10.1016/j.neurol.2022.09.001. PMID: 36336493
Sommer C
Curr Opin Neurol 2018 Oct;31(5):534-540. doi: 10.1097/WCO.0000000000000601. PMID: 30080717
Conceição I, González-Duarte A, Obici L, Schmidt HH, Simoneau D, Ong ML, Amass L
J Peripher Nerv Syst 2016 Mar;21(1):5-9. doi: 10.1111/jns.12153. PMID: 26663427Free PMC Article
Grisold W, Grisold A
Curr Neurol Neurosci Rep 2015 Jul;15(7):48. doi: 10.1007/s11910-015-0565-x. PMID: 26008813
Saporta MA
Continuum (Minneap Minn) 2014 Oct;20(5 Peripheral Nervous System Disorders):1208-25. doi: 10.1212/01.CON.0000455885.37169.4c. PMID: 25299278

Therapy

Dinh PC Jr, Monahan PO, Fosså SD, Sesso HD, Feldman DR, Dolan ME, Nevel K, Kincaid J, Vaughn DJ, Martin NE, Sanchez VA, Einhorn LH, Frisina R, Fung C, Kroenke K, Travis LB
J Natl Cancer Inst 2024 Mar 7;116(3):455-467. doi: 10.1093/jnci/djad236. PMID: 37966940Free PMC Article
Keohane D, Schwartz J, Gundapaneni B, Stewart M, Amass L
Amyloid 2017 Mar;24(1):30-36. Epub 2017 Apr 10 doi: 10.1080/13506129.2017.1301419. PMID: 28393570
Grisold W, Grisold A
Curr Neurol Neurosci Rep 2015 Jul;15(7):48. doi: 10.1007/s11910-015-0565-x. PMID: 26008813
Feurle GE
Digestion 1987;36(1):13-7. doi: 10.1159/000199393. PMID: 3493933

Prognosis

Lebray P, Varnous S
Clin Res Hepatol Gastroenterol 2019 Apr;43(2):123-130. Epub 2019 Jan 8 doi: 10.1016/j.clinre.2018.08.009. PMID: 30635235
Luigetti M, Primiano G, Bisogni G, Cuccagna C, Carrozzo R, Obici L, Bernardo D, Sancricca C, Servidei S
Amyloid 2018 Dec;25(4):261-262. Epub 2018 Sep 7 doi: 10.1080/13506129.2018.1506919. PMID: 30193540
Grisold W, Grisold A
Curr Neurol Neurosci Rep 2015 Jul;15(7):48. doi: 10.1007/s11910-015-0565-x. PMID: 26008813
Shivji ZM, Ashby P
Muscle Nerve 1999 Sep;22(9):1283-6. doi: 10.1002/(sici)1097-4598(199909)22:9<1283::aid-mus19>3.0.co;2-#. PMID: 10454728
Nelson GA, Edward DP, Wilensky JT
Ophthalmology 1999 Jul;106(7):1363-6. doi: 10.1016/S0161-6420(99)00726-5. PMID: 10406623

Clinical prediction guides

Dinh PC Jr, Monahan PO, Fosså SD, Sesso HD, Feldman DR, Dolan ME, Nevel K, Kincaid J, Vaughn DJ, Martin NE, Sanchez VA, Einhorn LH, Frisina R, Fung C, Kroenke K, Travis LB
J Natl Cancer Inst 2024 Mar 7;116(3):455-467. doi: 10.1093/jnci/djad236. PMID: 37966940Free PMC Article
Lebray P, Varnous S
Clin Res Hepatol Gastroenterol 2019 Apr;43(2):123-130. Epub 2019 Jan 8 doi: 10.1016/j.clinre.2018.08.009. PMID: 30635235
Wixner J, Törnblom H, Karling P, Anan I, Lindberg G
Neurogastroenterol Motil 2018 Sep;30(9):e13354. Epub 2018 Apr 14 doi: 10.1111/nmo.13354. PMID: 29655299
Conceição I, González-Duarte A, Obici L, Schmidt HH, Simoneau D, Ong ML, Amass L
J Peripher Nerv Syst 2016 Mar;21(1):5-9. doi: 10.1111/jns.12153. PMID: 26663427Free PMC Article
Feurle GE, Linke RP, Kuhn E, Wagner A
J Neurol 1984;231(5):237-43. doi: 10.1007/BF00313658. PMID: 6394723

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