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  1. Article ; Online: Novel Treatments for Hereditary ATTRv Amyloidosis.

    González-Duarte, Alejandra

    JAMA

    2023  Volume 330, Issue 15, Page(s) 1433–1434

    MeSH term(s) Humans ; Amyloid Neuropathies, Familial/drug therapy ; Amyloid Neuropathies, Familial/genetics ; Amyloidosis/drug therapy ; Amyloidosis/genetics ; Prealbumin/genetics
    Chemical Substances TTR protein, human ; Prealbumin
    Language English
    Publishing date 2023-09-28
    Publishing country United States
    Document type Editorial ; Comment
    ZDB-ID 2958-0
    ISSN 1538-3598 ; 0254-9077 ; 0002-9955 ; 0098-7484
    ISSN (online) 1538-3598
    ISSN 0254-9077 ; 0002-9955 ; 0098-7484
    DOI 10.1001/jama.2023.15087
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: TRANSTHYRETIN AMYLOIDOSIS THERAPIES: GUIDING THE FUTURE.

    González-Duarte, Alejandra

    Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion

    2021  Volume 73, Issue 5, Page(s) 310–315

    Abstract: Transthyretin (TTR) amyloidosis (ATTR) is a progressive condition characterized by multiorgan accumulation of amyloid deposits composed of transthyretin (TTR) fibrils. Over the past decades, despite being a rare disease, ATTR amyloidosis has enabled top- ... ...

    Abstract Transthyretin (TTR) amyloidosis (ATTR) is a progressive condition characterized by multiorgan accumulation of amyloid deposits composed of transthyretin (TTR) fibrils. Over the past decades, despite being a rare disease, ATTR amyloidosis has enabled top-tier therapeutics. In the 90s, organ transplantation was the mainstream therapeutic option and fostered distinct approaches, such as combined liver-heart transplant and domino (sequential) liver transplantation. Likewise, several TTR molecule stabilizers were developed successfully. Over the past decade, oriented genetic therapies emerged to prevent, control, and, surprisingly, reverse amyloid deposition. Silencing the TTR gene using different strategies is flourishing, and ongoing trials continue to evaluate diverse approaches to optimize their application. The following perspective describes the currently available treatments for ATTR amyloidosis and the prospects on the potential application of these strategies in other medical fields.
    MeSH term(s) Amyloid Neuropathies, Familial/genetics ; Amyloid Neuropathies, Familial/therapy ; Humans ; Liver ; Prealbumin/genetics
    Chemical Substances Prealbumin
    Language English
    Publishing date 2021-11-24
    Publishing country Mexico
    Document type Journal Article
    ZDB-ID 138348-6
    ISSN 0034-8376
    ISSN 0034-8376
    DOI 10.24875/RIC.21000323
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  3. Article ; Online: Early autonomic biomarkers in ATTRv carriers.

    González-Duarte, Alejandra / Norcliffe-Kauffman, Lucy

    Clinical autonomic research : official journal of the Clinical Autonomic Research Society

    2023  Volume 33, Issue 1, Page(s) 9–10

    Language English
    Publishing date 2023-01-31
    Publishing country Germany
    Document type Editorial ; Comment
    ZDB-ID 1080007-4
    ISSN 1619-1560 ; 0959-9851
    ISSN (online) 1619-1560
    ISSN 0959-9851
    DOI 10.1007/s10286-023-00926-0
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  4. Article: AUTHOR'S REPLY.

    González-Duarte, Alejandra

    Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion

    2020  Volume 72, Issue 4, Page(s) 260

    Language English
    Publishing date 2020-10-26
    Publishing country Mexico
    Document type Letter ; Comment
    ZDB-ID 138348-6
    ISSN 0034-8376
    ISSN 0034-8376
    DOI 10.24875/RIC.M20000003
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  5. Article ; Online: Transthyretin Amyloidosis Therapies

    Alejandra González-Duarte

    Revista de Investigación Clínica, Vol 73, Iss

    Guiding the Future

    2021  Volume 5

    Abstract: Transthyretin (TTR) amyloidosis (ATTR) is a progressive condition characterized by multiorgan accumulation of amyloid deposits composed of transthyretin (TTR) fibrils. Over the past decades, despite being a rare disease, ATTR amyloidosis has enabled top- ... ...

    Abstract Transthyretin (TTR) amyloidosis (ATTR) is a progressive condition characterized by multiorgan accumulation of amyloid deposits composed of transthyretin (TTR) fibrils. Over the past decades, despite being a rare disease, ATTR amyloidosis has enabled top-tier therapeutics. In the 90s, organ transplantation was the mainstream therapeutic option and fostered distinct approaches, such as combined liver-heart transplant and domino (sequential) liver transplantation. Likewise, several TTR molecule stabilizers were developed successfully. Over the past decade, oriented genetic therapies emerged to prevent, control, and, surprisingly, reverse amyloid deposition. Silencing the TTR gene using different strategies is flourishing, and ongoing trials continue to evaluate diverse approaches to optimize their application. The following perspective describes the currently available treatments for ATTR amyloidosis and the prospects on the potential application of these strategies in other medical fields. (
    Keywords Transthyretin amyloidosis. Hereditary amyloidosis. siRNA. Lipid nanoparticles ; Internal medicine ; RC31-1245
    Language English
    Publishing date 2021-01-01T00:00:00Z
    Publisher Permanyer
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  6. Article ; Online: Familial dysautonomia.

    González-Duarte, Alejandra / Cotrina-Vidal, Maria / Kaufmann, Horacio / Norcliffe-Kaufmann, Lucy

    Clinical autonomic research : official journal of the Clinical Autonomic Research Society

    2023  Volume 33, Issue 3, Page(s) 269–280

    Abstract: Familial dysautonomia (FD) is an autosomal recessive hereditary sensory and autonomic neuropathy (HSAN, type 3) expressed at birth with profound sensory loss and early death. The FD founder mutation in the ELP1 gene arose within the Ashkenazi Jews in the ...

    Abstract Familial dysautonomia (FD) is an autosomal recessive hereditary sensory and autonomic neuropathy (HSAN, type 3) expressed at birth with profound sensory loss and early death. The FD founder mutation in the ELP1 gene arose within the Ashkenazi Jews in the sixteenth century and is present in 1:30 Jews of European ancestry. The mutation yield a tissue-specific skipping of exon 20 and a loss of function of the elongator-1 protein (ELP1), which is essential for the development and survival of neurons. Patients with FD produce variable amounts of ELP1 in different tissues, with the brain producing mostly mutant transcripts. Patients have excessive blood pressure variability due to the failure of the IXth and Xth cranial nerves to carry baroreceptor signals. Neurogenic dysphagia causes frequent aspiration leading to chronic pulmonary disease. Characteristic hyperadrenergic "autonomic crises" consisting of brisk episodes of severe hypertension, tachycardia, skin blotching, retching, and vomiting occur in all patients. Progressive features of the disease include retinal nerve fiber loss and blindness, and proprioceptive ataxia with severe gait impairment. Chemoreflex failure may explain the high frequency of sudden death in sleep. Although 99.5% of patients are homozygous for the founder mutation, phenotypic severity varies, suggesting that modifier genes impact expression. Medical management is currently symptomatic and preventive. Disease-modifying therapies are close to clinical testing. Endpoints to measure efficacy have been developed, and the ELP1 levels are a good surrogate endpoint for target engagement. Early intervention may be critical for treatment to be successful.
    MeSH term(s) Infant, Newborn ; Humans ; Dysautonomia, Familial ; Neurons ; Mutation
    Language English
    Publishing date 2023-05-19
    Publishing country Germany
    Document type Journal Article ; Review
    ZDB-ID 1080007-4
    ISSN 1619-1560 ; 0959-9851
    ISSN (online) 1619-1560
    ISSN 0959-9851
    DOI 10.1007/s10286-023-00941-1
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  7. Article ; Online: Pure autonomic failure and the differential diagnosis of autonomic peripheral neuropathies.

    González-Duarte, Alejandra / Varma-Doyle, Aditi / Freeman, Roy

    Current opinion in neurology

    2021  Volume 34, Issue 5, Page(s) 675–682

    Abstract: Purpose of review: Pure autonomic failure (PAF) is a peripheral autonomic neurodegenerative disease caused by alpha-synuclein deposition that is predominantly confined to peripheral autonomic neurons. Patients present with insidious features of ... ...

    Abstract Purpose of review: Pure autonomic failure (PAF) is a peripheral autonomic neurodegenerative disease caused by alpha-synuclein deposition that is predominantly confined to peripheral autonomic neurons. Patients present with insidious features of autonomic failure that have a chronic course.In this review, we highlight the features of PAF, the differentiating features from other autonomic neuropathies, the diagnostic tests, and the predictors for conversion to a central synucleinopathy.
    Recent findings: Natural history studies have defined the predictors for and rate of conversion to a central alpha-synucleinopathy. Skin immunohistochemistry techniques and demonstration of length-dependent neuronal loss of both somatic and autonomic small fiber nerves, and intraneural phosphorylated synuclein deposition provide diagnostic biomarkers. In the future, diagnosis maybe supported by measuring cerebrospinal fluid alpha-synuclein oligomers using techniques, such as protein misfolding cyclic amplification assay and real-time quaking-induced conversion.
    Summary: PAF is a sporadic peripheral autonomic neurodegenerative disease that belongs to the group of disorders known as alpha-synucleinopathies. Peripheral autonomic manifestations are similar to those seen in other autonomic neuropathies, particularly, diabetic autonomic neuropathy, amyloid polyneuropathy, and autoimmune autonomic neuropathies. Novel diagnostic procedures like skin immunohistochemistry for alpha-synuclein, and protein amplification techniques are being investigated to provide an earlier and more specific diagnosis. A substantial number of PAF patients' phenoconvert to a central alpha-synucleinopathy.
    MeSH term(s) Autonomic Nervous System Diseases/diagnosis ; Diagnosis, Differential ; Humans ; Neurodegenerative Diseases ; Peripheral Nervous System Diseases/diagnosis ; Pure Autonomic Failure/diagnosis ; Synucleinopathies ; alpha-Synuclein
    Chemical Substances alpha-Synuclein
    Language English
    Publishing date 2021-08-10
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 1182686-1
    ISSN 1473-6551 ; 1350-7540
    ISSN (online) 1473-6551
    ISSN 1350-7540
    DOI 10.1097/WCO.0000000000000985
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  8. Article ; Online: Meropenem-Induced Facial Myoclonus.

    Millar Vernetti, Patricio / Dalamo, Kaia / Khan, Zenith / Gonzalez-Duarte, Alejandra / Frucht, Steven / Kaufmann, Horacio

    Movement disorders clinical practice

    2023  Volume 10, Issue Suppl 3, Page(s) S21–S23

    Language English
    Publishing date 2023-08-24
    Publishing country United States
    Document type Case Reports
    ISSN 2330-1619
    ISSN (online) 2330-1619
    DOI 10.1002/mdc3.13777
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  9. Article ; Online: Is 'happy hypoxia' in COVID-19 a disorder of autonomic interoception? A hypothesis.

    González-Duarte, Alejandra / Norcliffe-Kaufmann, Lucy

    Clinical autonomic research : official journal of the Clinical Autonomic Research Society

    2020  Volume 30, Issue 4, Page(s) 331–333

    MeSH term(s) Autonomic Nervous System/physiology ; Awareness/physiology ; Betacoronavirus ; COVID-19 ; Coronavirus Infections/diagnosis ; Coronavirus Infections/physiopathology ; Humans ; Hypoxia/diagnosis ; Hypoxia/physiopathology ; Interoception/physiology ; Pandemics ; Pneumonia, Viral/diagnosis ; Pneumonia, Viral/physiopathology ; SARS-CoV-2
    Keywords covid19
    Language English
    Publishing date 2020-07-15
    Publishing country Germany
    Document type Letter
    ZDB-ID 1080007-4
    ISSN 1619-1560 ; 0959-9851
    ISSN (online) 1619-1560
    ISSN 0959-9851
    DOI 10.1007/s10286-020-00715-z
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  10. Article ; Online: Autonomic involvement in hereditary transthyretin amyloidosis (hATTR amyloidosis).

    Gonzalez-Duarte, Alejandra

    Clinical autonomic research : official journal of the Clinical Autonomic Research Society

    2018  Volume 29, Issue 2, Page(s) 245–251

    Abstract: Purpose: Hereditary transthyretin amyloidosis (hATTR amyloidosis) is a progressive disease primarily characterized by adult-onset sensory, motor, and autonomic neuropathy. In this article, we discuss the pathophysiology and principal findings of ... ...

    Abstract Purpose: Hereditary transthyretin amyloidosis (hATTR amyloidosis) is a progressive disease primarily characterized by adult-onset sensory, motor, and autonomic neuropathy. In this article, we discuss the pathophysiology and principal findings of autonomic neuropathy in hATTR amyloidosis, the most common methods of assessment and progression, and its relation as a predictive risk factor or a measure of progression in the natural history of the disease.
    Methods: A literature search was performed using the terms "autonomic neuropathy," "dysautonomia," and "autonomic symptoms" in patients with hereditary transthyretin amyloidosis and familial amyloid polyneuropathy.
    Results: Various scales to measure autonomic function have been employed, particularly within the major clinical trials, to assess novel therapies for the disease. Most of the evaluations were taken from diabetic clinical trials. Questionnaires include the COMPASS-31 and Norfolk QOL autonomic nerve function domain, whereas clinical evaluations comprise HRDB and the orthostatic tolerance test. Several treatment options are being employed although only diflunisal and tafamidis have reported improvement in the autonomic abnormalities.
    Conclusions: Autonomic nerves are often affected before motor nerve impairment, and dysautonomia may support the diagnosis of hATTR amyloidosis when differentiating from other adult-onset progressive neuropathies and from other types of amyloidosis. Most of the progression of autonomic dysfunction is seen in early stages of the disease, commonly before motor impairment or affection of the overall quality of life. Unfortunately, there is no current single standardized approach to evaluate dysautonomia in hATTR amyloidosis.
    MeSH term(s) Amyloid Neuropathies, Familial/physiopathology ; Autonomic Nervous System/physiopathology ; Autonomic Nervous System Diseases/physiopathology ; Humans
    Language English
    Publishing date 2018-03-06
    Publishing country Germany
    Document type Journal Article ; Review
    ZDB-ID 1080007-4
    ISSN 1619-1560 ; 0959-9851
    ISSN (online) 1619-1560
    ISSN 0959-9851
    DOI 10.1007/s10286-018-0514-2
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