☆ 4.3 Review

Familial dysautonomia

CLINICAL AUTONOMIC RESEARCH (2023)

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Article Genetics & Heredity

Development of an oral treatment that rescues gait ataxia and retinal degeneration in a phenotypic mouse model of familial dysautonomia

Elisabetta Morini et al.

Summary: Familial dysautonomia (FD) is a rare neurodegenerative disease caused by a splicing mutation in ELP1. The mutation leads to reduced ELP1 production and is accompanied by severe gait ataxia and retinal degeneration. Using kinetin as a starting point, researchers have developed novel splicing modulator compounds (SMCs) to correct the ELP1 splicing defect and restore normal ELP1 levels in the nervous system. The oral administration of the compound PTC258 in a mouse model of FD shows promising results in restoring correct ELP1 splicing, improving symptoms, and preventing neuronal degeneration.

AMERICAN JOURNAL OF HUMAN GENETICS (2023)

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Article Genetics & Heredity

A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotype

Marija Kojic et al.

Summary: A novel mutation in the ELP1 gene has been identified and shown to be associated with intellectual disability and global developmental delay. This mutation affects the ability of ELP1 to bind tRNAs and compromises the function of the Elongator complex. These findings provide new insights into the genetic factors underlying neurodevelopmental disorders.

JOURNAL OF HUMAN GENETICS (2023)

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Article Genetics & Heredity

Rescue of a familial dysautonomia mouse model by AAV9-Exon-specific U1 snRNA

Giulia Romano et al.

Summary: This study successfully delivered ExSpeU1 small nuclear RNA using AAV9-U1-FD vector in a mouse model of FD, which increased the inclusion of ELP1 exon 20 and production of functional protein. The treatment rescued the majority of FD mouse mortality and improved motor function, renal function, and cardiac function. RNA-seq analysis showed minimal global changes in gene expression and splicing. This therapeutic strategy shows high specificity and potential for treating FD.

AMERICAN JOURNAL OF HUMAN GENETICS (2022)

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Article Multidisciplinary Sciences

Norepinephrine transporter defects lead to sympathetic hyperactivity in Familial Dysautonomia models

Hsueh-Fu Wu et al.

Summary: This study demonstrates that sympathetic neurons in patients with familial dysautonomia are hyperactive and exhibit deficits in norepinephrine transporter, suggesting potential mechanisms underlying the disease.

NATURE COMMUNICATIONS (2022)

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Article Biochemistry & Molecular Biology

Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century

Shamam Waldman et al.

Summary: We obtained genome-wide data from 33 Ashkenazi Jews dating back to the 14th century, and found that they are genetically similar to modern Ashkenazi Jews but show more variability in their Eastern European-related ancestry. The study also reveals that the ancient Ashkenazi Jewish community had already experienced a significant reduction in size, indicating substructure in medieval Ashkenazi Jews.

CELL (2022)

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Article Multidisciplinary Sciences

Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia

Masahiko Ajiro et al.

Summary: Research has shown that the small molecule splice modulator RECTAS can enhance the inclusion of exon 20 of the IKBKAP gene causing familial dysautonomia by promoting the binding of the splicing enhancer factor SRSF6. RECTAS interacts with CDC-like kinases (CLKs) and enhances SRSF6 phosphorylation to achieve its effects. By regulating cellular CLK activity, RECTAS can bidirectionally manipulate exon 20 splicing, which has been validated in multiple FD disease models.

NATURE COMMUNICATIONS (2021)

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Article Medicine, General & Internal

Baroreflex Dysfunction

Horacio Kaufmann et al.

NEW ENGLAND JOURNAL OF MEDICINE (2020)

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Article Peripheral Vascular Disease

Carbidopa for Afferent Baroreflex Failure in Familial Dysautonomia A Double-Blind Randomized Crossover Clinical Trial

Lucy Norcliffe-Kaufmann et al.

HYPERTENSION (2020)

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Article Clinical Neurology

Afferent Baroreflex Dysfunction: Decreased or Excessive Signaling Results in Distinct Phenotypes

Lucy Norcliffe-Kaufmann et al.

SEMINARS IN NEUROLOGY (2020)

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Review Neurosciences

Chemoreflex failure and sleep-disordered breathing in familial dysautonomia: Implications for sudden death during sleep

Jose-Alberto Palma et al.

AUTONOMIC NEUROSCIENCE-BASIC & CLINICAL (2019)

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Review Clinical Neurology

Hereditary Sensory and Autonomic Neuropathies: Adding More to the Classification

Coreen Schwartzlow et al.

CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS (2019)

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Review Clinical Neurology

The Vagus and Glossopharyngeal Nerves in Two Autonomic Disorders

Lucy Norcliffe-Kaufmann

JOURNAL OF CLINICAL NEUROPHYSIOLOGY (2019)

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Article Biochemical Research Methods

Development of a Screening Platform to Identify Small Molecules That Modify ELP1 Pre-mRNA Splicing in Familial Dysautonomia

Monica Salani et al.

SLAS DISCOVERY (2019)

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Article Genetics & Heredity

ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia

Elisabetta Morini et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2019)

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Article Clinical Neurology

Founder mutation in IKBKAP gene causes vestibular impairment in familial dysautonomia

Joel V. Gutierrez et al.

CLINICAL NEUROPHYSIOLOGY (2018)

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Article Biochemistry & Molecular Biology

Antisense oligonucleotides correct the familial dysautonomia splicing defect in IKBKAP transgenic mice

Rahul Sinha et al.

NUCLEIC ACIDS RESEARCH (2018)

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Review Cardiac & Cardiovascular Systems

Respiratory care in familial dysautonomia: Systematic review and expert consensus recommendations

Mikhail Kazachkov et al.

RESPIRATORY MEDICINE (2018)

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Article Neurosciences

Impaired sensorimotor control of the hand in congenital absence of functional muscle spindles

Lyndon J. Smith et al.

JOURNAL OF NEUROPHYSIOLOGY (2018)

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Review Clinical Neurology

Transcranial Doppler in autonomic testing: standards and clinical applications

Lucy Norcliffe-Kaufmann et al.

CLINICAL AUTONOMIC RESEARCH (2018)

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Article Clinical Neurology

Dexmedetomidine for refractory adrenergic crisis in familial dysautonomia

Ryan C. Dillon et al.

CLINICAL AUTONOMIC RESEARCH (2017)

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Article Endocrinology & Metabolism

Cerebral autoregulation and symptoms of orthostatic hypotension in familial dysautonomia

Cristina Fuente Mora et al.

JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM (2017)

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Review Neurosciences

Familial dysautonomia: History, genotype, phenotype and translational research

Lucy Norcliffe-Kaufmann et al.

PROGRESS IN NEUROBIOLOGY (2017)

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Article Clinical Neurology

Sudden Unexpected Death During Sleep in Familial Dysautonomia: A Case-Control Study

Jose-Alberto Palma et al.

SLEEP (2017)

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Article Clinical Neurology

Sudden Unexpected Death During Sleep in Familial Dysautonomia: A Case-Control Study

Jose-Alberto Palma et al.

SLEEP (2017)

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Article Clinical Neurology

Intranasal dexmedetomidine for adrenergic crisis in familial dysautonomia

Christy L. Spalink et al.

CLINICAL AUTONOMIC RESEARCH (2017)

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Article Clinical Neurology

Mother-induced hypertension in familial dysautonomia

Lucy Norcliffe-Kaufmann et al.

CLINICAL AUTONOMIC RESEARCH (2016)

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Review Biochemistry & Molecular Biology

Familial Dysautonomia: Mechanisms and Models

Paula Dietrich et al.

GENETICS AND MOLECULAR BIOLOGY (2016)

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Article Neurosciences

Increasing cutaneous afferent feedback improves proprioceptive accuracy at the knee in patients with sensory ataxia

Vaughan G. Macefield et al.

JOURNAL OF NEUROPHYSIOLOGY (2016)

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Article Physiology

Chewing-induced hypertension in afferent baroreflex failure: a sympathetic response?

Cristina Fuente Mora et al.

EXPERIMENTAL PHYSIOLOGY (2015)

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Review Pharmacology & Pharmacy

Current treatments in familial dysautonomia

Jose-Alberto Palma et al.

EXPERT OPINION ON PHARMACOTHERAPY (2014)

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Article Otorhinolaryngology

Onabotulinum toxin A for the treatment of sialorrhea in familial dysautonomia

Sam J. Daniel et al.

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY (2014)

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Article Gastroenterology & Hepatology

Cyclic Vomiting Associated With Excessive Dopamine in Riley-day Syndrome

Lucy J. Norcliffe-Kaufmann et al.

JOURNAL OF CLINICAL GASTROENTEROLOGY (2013)

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Article Peripheral Vascular Disease

Developmental abnormalities, blood pressure variability and renal disease in Riley Day syndrome

L. Norcliffe-Kaufmann et al.

JOURNAL OF HUMAN HYPERTENSION (2013)

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Article Clinical Neurology

Hyperdopaminergic crises in familial dysautonomia A randomized trial of carbidopa

Lucy Norcliffe-Kaufmann et al.

NEUROLOGY (2013)

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Article Genetics & Heredity

Genome-wide analysis of familial dysautonomia and kinetin target genes with patient olfactory ecto-mesenchymal stem cells

Nathalie Boone et al.

HUMAN MUTATION (2012)

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Review Clinical Neurology

Mechanisms of disease in hereditary sensory and autonomic neuropathies

Annelies Rotthier et al.

NATURE REVIEWS NEUROLOGY (2012)

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Article Clinical Neurology

Afferent baroreflex failure in familial dysautonomia

Lucy Norcliffe-Kaufmann et al.

NEUROLOGY (2010)

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News Item Multidisciplinary Sciences

Chasing a Disease To the Vanishing Point

Jennifer Couzin-Frankel

SCIENCE (2010)

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Article Pediatrics

Pregabalin: A New Approach to Treatment of the Dysautonomic Crisis

Felicia B. Axelrod et al.

PEDIATRICS (2009)

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Article Clinical Neurology

Cardiac sympathetic hypo-innervation in familial dysautonomia

David S. Goldstein et al.

CLINICAL AUTONOMIC RESEARCH (2008)

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Article Medicine, General & Internal

Clonidine improves postprandial baroreflex control in familial dysautonomia

H Marthol et al.

EUROPEAN JOURNAL OF CLINICAL INVESTIGATION (2003)

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Article Genetics & Heredity

Identification of the first non-Jewish mutation in familial dysautonomia

M Leyne et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2003)

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Article Genetics & Heredity

Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia

SA Slaugenhaupt et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2001)

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