Charcot-Marie-Tooth Disease, Type 1D

Last update 08 May 2025

Basic Info

Synonyms

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1D

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Introduction

A form of Charcot-Marie-Tooth disease type 1, caused by mutations in the EGR2 gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood). Usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis.

Clinical Trials associated with Charcot-Marie-Tooth Disease, Type 1D

NCT05902351

/ RecruitingNot Applicable

Global Registry for Inherited Neuropathies Natural History Study for Charcot Marie Tooth Disease

The goal of this Natural History Study for Charcot-Marie-Tooth is to acquire, record, and analyze patient-reported data and associated genetic reports, Electronic Health Records (EHRs) and clinical notes to identify the burden, diagnostic journey, and prevalence of disease that will aid scientists in their work toward finding a cure.
Participants will be asked to complete a Natural History Survey.

Start Date01 Nov 2013

Sponsor / Collaborator

Hereditary Neuropathy Foundation, Inc.

100 Clinical Results associated with Charcot-Marie-Tooth Disease, Type 1D

100 Translational Medicine associated with Charcot-Marie-Tooth Disease, Type 1D

0 Patents (Medical) associated with Charcot-Marie-Tooth Disease, Type 1D

Literatures (Medical) associated with Charcot-Marie-Tooth Disease, Type 1D

01 Sep 2024·Annals of Neurology

Brain Iron Dysregulation in Iron Deficiency Anemia‐Related Restless Leg Syndrome Revealed by Neuron‐Derived Extracellular Vesicles: A Case–Control Study

Article

Author: Earley, Christopher J ; Manolopoulos, Apostolos ; Kapogiannis, Dimitrios ; Pucha, Krishna Ananthu ; York, William

Brain iron deficiency (ID) and, to a degree, systemic ID have been implicated in restless leg syndrome (RLS) pathogenesis. Previously, we found increased ferritin in neuron‐derived extracellular vesicles (NDEVs) in RLS, suggesting a mechanism for depleting intracellular iron by secreting ferritin‐loaded NDEVs. In this study, we hypothesized that increased NDEV ferritin occurs even in RLS accompanied by systemic ID and that neuronal intracellular iron depletion in RLS also manifests as NDEV abnormalities in other iron regulatory proteins, specifically, decreased transferrin receptor (TfR) and increased ferroportin. To address these hypotheses, we studied 71 women with ID anemia, 36 with RLS, and 35 without RLS. Subjects with RLS again showed higher NDEV ferritin and also decreased TfR, suggesting diminished neuronal capacity for iron uptake. Findings inform a more complete understanding of the pathogenic role of neuronal iron homeostasis and dissociate it from peripheral ID. ANN NEUROL 2024;96:560–564

07 May 2024·Journal of the American Heart Association

Imbalance of Iron Availability and Demand in Patients With Acute and Chronic Heart Failure

Article

Author: Ulmer, Hanno ; Ungericht, Maria ; Zaruba, Marc‐Michael ; Weiss, Guenter ; Hirsch, Jakob ; Hechenberger, Stefan ; Lanser, Lukas ; Messner, Moritz ; Poelzl, Gerhard ; Koller, Bernhard ; Obersteiner, Stefan

BackgroundIron deficiency (ID) is a frequent comorbidity in patients with acute (AHF) and chronic heart failure (CHF) associated with morbidity and death. We aimed to better characterize iron homeostasis in patients with heart failure applying different biomarkers and to evaluate the accuracy of current ID definition by the European Society of Cardiology/American College of Cardiology/American Heart Association to indicate tissue iron availability and demand.Methods and ResultsWe performed a retrospective cohort study investigating 277 patients with AHF and 476 patients with CHF between February 2021 and May 2022. Patients with AHF had more advanced ID than patients with CHF, reflected by increased soluble transferrin receptor and soluble transferrin receptor–ferritin index, and lower ferritin, serum iron, transferrin saturation, hepcidin, and reticulocyte hemoglobin. Decreased iron availability or increased tissue iron demand, reflected by increased soluble transferrin receptor–ferritin index and decreased reticulocyte hemoglobin, was found in 84.1% (AHF) and 28.0% (CHF) with absolute ID and in 50.0% (AHF) and 10.5% (CHF) with combined ID according to the current European Society of Cardiology/American College of Cardiology/American Heart Association–based ID definition. Low hepcidin expression as an indicator of systemic ID was found in 91.1% (AHF) and 80.4% (CHF) of patients with absolute ID and in 32.3% (AHF) and 18.8% (CHF) of patients with combined ID. ID definitions with higher specificity reduce the need for iron supplementation by 25.5% in patients with AHF and by 65.6% in patients with CHF.ConclusionsOur results suggest that the current European Society of Cardiology/American College of Cardiology/American Heart Association–based ID definition might overestimate true ID, particularly in CHF. More stringent thresholds for ID could more accurately identify patients with heart failure with reduced tissue iron availability who benefit from intravenous iron supplementation.

01 Sep 2023·Journal of the Peripheral Nervous System

EGR2 gene‐linked hereditary neuropathies present with a bimodal age distribution at symptoms onset

Author: Kuntzer, Thierry ; Poinsignon, Vianney ; Bouligand, Jérôme ; Chanson, Jean-Baptiste ; Echaniz-Laguna, Andoni ; Cauquil, Cécile ; Tard, Céline ; Ion, Ioana Maria ; Guyant-Marechal, Lucie ; Lia, Anne-Sophie

AbstractBackgroundMutations in the Early‐Growth Response 2 (EGR2) gene cause various hereditary neuropathies, including demyelinating Charcot–Marie‐Tooth (CMT) disease type 1D (CMT1D), congenital hypomyelinating neuropathy type 1 (CHN1), Déjerine–Sottas syndrome (DSS), and axonal CMT (CMT2).MethodsIn this study, we identified 14 patients with heterozygous EGR2 mutations diagnosed between 2000 and 2022.ResultsMean age was 44 years (15–70), 10 patients were female (71%), and mean disease duration was 28 years (1–56). Disease onset was before age 15 years in nine cases (64%), after age 35 years in four cases (28%), and one patient aged 26 years was asymptomatic (7%). All symptomatic patients had pes cavus and distal lower limbs weakness (100%). Distal lower limbs sensory symptoms were observed in 86% of cases, hand atrophy in 71%, and scoliosis in 21%. Nerve conduction studies showed a predominantly demyelinating sensorimotor neuropathy in all cases (100%), and five patients needed walking assistance after a mean disease duration of 50 years (47–56) (36%). Three patients were misdiagnosed as inflammatory neuropathy and treated with immunosuppressive drugs for years before diagnosis was corrected. Two patients presented with an additional neurologic disorder, including Steinert's myotonic dystrophy and spinocerebellar ataxia (14%). Eight EGR2 gene mutations were found, including four previously undescribed.Interpretation.Our findings demonstrate EGR2 gene‐related hereditary neuropathies are rare and slowly progressive demyelinating neuropathies with two major clinical presentations, including a childhood‐onset variant and an adult‐onset variant which may mimic inflammatory neuropathy. Our study also expands the genotypic spectrum of EGR2 gene mutations.

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