CHarcot Marie Tooth
Validation of diagnostic codes for Charcot-Marie-Tooth disease in the Danish National Patient Registry
... We chose to perform our validation study on cases diagnosed with CMT in the CDR. Using the DNPR, we identified all discharge diagnoses between 1977 and 2012 consistent with CMT: ICD-10 DG600 (hereditary motor and sensory ...
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Restoring mitofusin balance prevents axonal degeneration in a Charcot Marie Tooth type 2A model
... the Charcot- Marie- Tooth Association (to RHB); NIH grant AG056678 (to RH); NIH grant R35HL135736 (to GWD); and a McDonnell Center for Cellular and Molecular Neurobiology postdoctoral fellowship (to ...
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Original Article Characteristics of demyelinating Charcot-Marie-Tooth disease with concurrent diabetes mellitus
... Charcot-Marie-Tooth disease (CMT), first described by Charcot, Marie, and Tooth et al. in 1886, is the most common type of hereditary motor and sensory peripheral neuropathy [1]. ...
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REVIEW ARTICLE Charcot-Marie-Tooth type 1A disease from patient to laboratory
... Charcot-Marie-Tooth (CMT) disease is a well-known neural or spinal type of muscular atrophy. It is the most familiar disease within a group of conditions called Hereditary Motor and Sensory ...
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Charcot–Marie–Tooth disease: Genetics, epidemiology and complications
... Tooth who described it for the first time. Charcot Marie Tooth disease (CMT) is the most prevalent hereditary neuropathy and its frequency is 1 in 2500. The other name of CMT disease is ...
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Cavovarus deformity in Charcot-Marie-Tooth disease: is there a hindfoot equinus deformity that needs treatment?
... Background: Charcot-Marie-Tooth disease (CMT), one of the most common hereditary neurologic disorders, often results in debilitating cavovarus foot ...
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Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease
... CMAP: compound muscle action potential; CMT: Charcot-Marie-Tooth disease; CMTNS: CMT neuropathy score; EMG: electromyography; dHMN: distal hereditary motor neuronopathy; HMSN: hereditary[r] ...
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Store-operated calcium entry in neural cells. A role in Charcot-Marie-Tooth disease
... Charcot-Marie-Tooth (CMT) disease is a peripheral motor and sensory neuropathy. It is one of the most common inherited neuromuscular diseases with a population prevalence of 1 in 2500 (Reilly et al., ...
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PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies
... to Charcot-Marie-Tooth disease type 1A (CMT1A), (2) PMP22 deletions, leading to Hereditary Neuropathy with liability to Pressure Palsies (HNPP), and (3) PMP22 point mutations, causing both ...
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PMP22 antisense oligonucleotides reverse Charcot Marie Tooth disease type 1A features in rodent models
... as Charcot-Marie- Tooth disease (CMT), are one of the most common heritable dis- eases of the nervous system, affecting approximately 1 in 2,500 individuals ...
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Charcot-Marie-Tooth gene, SBF2, associated with taxane- induced peripheral neuropathy in African Americans
... SBF2 is on chromosome 11p15 and is a member of the myotubularin–related protein family. SBF2 encodes for a gene that, when mutated, is known to be associated with a subtype of Charcot-Marie-Tooth ...
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Improving molecular diagnosis of Chinese patients with Charcot-Marie-Tooth by targeted next-generation sequencing and functional analysis
... Charcot-Marie-Tooth (CMT) disease is the most common hereditary peripheral neuropathy. More than 50 causative genes have been identified. The lack of genotype- phenotype correlations in many CMT ...
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Allele specific RNA interference prevents neuropathy in Charcot Marie Tooth disease type 2D mouse models
... genes. However, the feasibility of these approaches for dominantly inherited diseases — where treatment may require reduction in the expression of a toxic mutant protein resulting from a gain-of-function allele — is ...
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Clinical and genetic study of a large Charcot–Marie–Tooth type 2A family from southern Italy
... Article abstract—The authors report a large pedigree from southern Italy with Charcot–Marie–Tooth disease type 2A (CMT2A). The clinical picture was uniform and characterized by distal muscular ...
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Two novel connexin32 mutations cause early onset X-linked Charcot-Marie-Tooth disease
... librium. The literature describes central symptoms such as deafness, extensor plantar response, transient ataxia, dys- arthria, dysphagia or weakness as well as abnormal VEP, brainstem auditory evoked potentials and ...
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Autophagy Is Up Regulated In A Neuronal Model Of Charcot-Marie Tooth Disease That Overexpresses Dynamin 2 Mutant
... Dominant-Intermediate Charcot-Marie-Tooth disease is one of the most common inherited disorders affecting the peripheral nervous ...dominant-intermediate Charcot Marie Tooth Syn- ...
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Axonal Transport Defects in a Mitofusin 2 Loss of Function Model of Charcot-Marie-Tooth Disease in Zebrafish
... Charcot-Marie-Tooth disease (CMT) represents a group of neurodegenerative disorders typically characterised by demyelination (CMT1) or distal axon degeneration (CMT2) of motor and sensory neurons. ...
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Course of Atypical Manifestations of a Case of Charcot Marie Tooth Disease over 35 Years of Clinical Observation
... Introduction: Atypical manifestations of peripheral neuropathy are not rare, challenging the differential diagnosis. In the past, the diagnosis of hereditary neuropathy was mainly based on the clinical and ...
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Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathy
... Gene mutations in NEFL have been found to underlie Charcot- Marie-Tooth disease (CMT), either the demyelinating CMT1F 4 or axonal CMT2E 10 form. 10,11 Most disease-causing NEFL mutations are ...
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Centrally involved X-linked Charcot-Marie-Tooth disease presenting as a stroke-mimic
... X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) is the second most common hereditary motor sensory neuropathy (HMSN) representing an estimated 10% – 15% of ...
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