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Recurrent Stroke-like Events Preceding the X-linked Charcot-Marie-Tooth Disease Diagnosis (P6.011)
CONCLUSIONS:The transient encephalopathic syndrome with focal paresis, dysarthria, and ataxia is an under recognized early presentation of CMT1X and it continues to be clinically challenging due to its rarity. Thus, this case emphasizes the need for awareness among practitioners to consider CMT1X in the differential diagnosis of acute encephalopathy with symmetric cerebral white matter signal alterations with restricted diffusion to avoid unnecessary work-up and the associated costs.Study Supported by: noneDisclosure: Dr. Kimbason has nothing to disclose. Dr. Anilkumar has nothing to disclose. Dr. Bronov has nothing to disclose.
Source: Neurology - April 9, 2014 Category: Neurology Authors: Kimbason, T., Anilkumar, A., Bronov, O. Tags: Child Neurology V Source Type: research

Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disorder information page compiled by the National Institute of Neurological Disorders and Stroke (NINDS).
Source: NINDS Disorders: National Institute of Neurological Disorders and Stroke - October 26, 2014 Category: Neurology Source Type: research

Recurrent Stroke-Like Symptoms After Cesarean Section Deliveries in a Female Patient With X-Linked Charcot-Marie-Tooth Type 1
Conclusion: The diagnosis of CMTX1 should be considered, even in female patients, when the disease presents with recurrent stroke-like symptoms and abnormal white matter signals on MRI. The puerperium after delivery may be one of the precipitating factors.
Source: Frontiers in Neurology - January 27, 2020 Category: Neurology Source Type: research

A Novel Variant in Non-coding Region of GJB1 Is Associated With X-Linked Charcot-Marie-Tooth Disease Type 1 and Transient CNS Symptoms
Conclusion A novel GJB1 variant of c.-170T>G in non-coding region was found in this big Chinese CMTX1 pedigree. This is the first report of variant in non-coding DNA sequence associated with transient CNS symptoms. Thyroid malfunction may contribute to the CNS symptoms in this case. Ethics Statement This study has been reviewed and approved by the Ethics Committee of the China-Japan Union Hospital of Jilin University. Each member of the family provided written informed consent to the participation in the study, the genetic test, and authorized to publish the study including the photos in accordance with the Decl...
Source: Frontiers in Neurology - April 23, 2019 Category: Neurology Source Type: research

Diagnostic Challenges due to Atypical presentations of CMT in Charcot Marie Tooth Disease type 4C associated with SH3TC2 mutations (P5.124)
Conclusions:Our results suggest that certain mutations in the SH3TC2 gene can present with clinical features atypical of classic presentations of CMT. These atypical features have been described previously, and our results confirm the diagnostic challenge associated with CMT 4C.Study Supported by:This work was supported by intramural funding from the National Institute of Neurological Disorders and Stroke (NINDS), NIH (AM). The work was supported by a grant from the National Institute of Neurological Disorders and Stroke (MES) and Office of Rare Diseases (MES, U54NS065712), Muscular Dystrophy Association (MES), Charcot-Mar...
Source: Neurology - April 17, 2017 Category: Neurology Authors: Jerath, N., Grunseich, C., Baloui, H., Nnamdi-Emeratom, C., Schindler, A., Chrast, R., Shy, M., Mankodi, A. Tags: Neuromuscular and Clinial Neurophysiology (EMG): Peripheral Neuropathy II Source Type: research

A case with CMTX1 disease showing transient ischemic-attack-like episodes
We describe a 15-year-old male patient with CMTX1 who had stroke-like findings along with foot deformities and peripheral neuropathy. Strokes and stroke-like attacks are rarely seen in children and adolescents. Herein, neurological signs, MRI findings and genetic results of a CMTX1 case are presented and discussed.
Source: Polish Journal of Neurology and Neurosurgery - November 10, 2017 Category: Neurosurgery Source Type: research

A case with CMTX1 disease showing transient ischemic-attack-like episodes.
We describe a 15-year-old male patient with CMTX1 who had stroke-like findings along with foot deformities and peripheral neuropathy. Strokes and stroke-like attacks are rarely seen in children and adolescents. Herein, neurological signs, MRI findings and genetic results of a CMTX1 case are presented and discussed. PMID: 29153916 [PubMed - as supplied by publisher]
Source: Neurologia i Neurochirurgia Polska - November 9, 2017 Category: Neurology Authors: Aktan Z, Akcakaya NH, Tekturk P, Deniz E, Koyuncu B, Yapici Z Tags: Neurol Neurochir Pol Source Type: research

Interosseous membrane window size for tibialis posterior tendon transfer–geometrical and m.r.i. Analysis
Tibialis posterior transfer was first reported by Ober in 1933.[1] He described the circumtibial technique. This transfer allows the foot to recover (at least partially) its dorsiflexion motion in pathologies such as Charcot-Marie-Tooth, leprosy, mononeuropathy, common peroneal nerve injury, stroke, Duchenne muscular dystrophy, [2–5,7] whenever the deformity is flexible.
Source: Foot and Ankle Surgery - September 17, 2015 Category: Orthopaedics Authors: Pablo Wagner, Cristian Ortiz, Omar Vela, Paul Arias, Diego Zanolli, Emilio Wagner Source Type: research

Interosseous membrane window size for tibialis posterior tendon transfer—Geometrical and MRI analysis
Tibialis posterior transfer was first reported by Ober in 1933 [1]. He described the circumtibial technique. This transfer allows the foot to recover (at least partially) its dorsiflexion motion in pathologies such as Charcot-Marie-Tooth, leprosy, mononeuropathy, common peroneal nerve injury, stroke, Duchenne muscular dystrophy [2–5,7], whenever the deformity is flexible.
Source: Foot and Ankle Surgery - September 17, 2015 Category: Orthopaedics Authors: Pablo Wagner, Cristian Ortiz, Omar Vela, Paul Arias, Diego Zanolli, Emilio Wagner Source Type: research

Recurrent Episodes of Stroke-Like Symptoms in a Patient with Charcot-Marie-Tooth Neuropathy X Type 1
Charcot-Marie-Tooth disease (CMT), also known as hereditary motor sensory neuropathy, is a heterogeneous group of disorders best known for causing inherited forms of peripheral neuropathy. The X-linked form, CMTX1, is caused by mutations in the gap junction protein beta 1 (GJB1) gene, expressed both by peripheral Schwann cells and central oligodendrocytes. Central manifestations are known but are rare, and there are few case reports of leukoencephalopathy with transient or persistent neurological deficits in patients with this CMT subtype. Here, we report the case of a man with multiple male and female family members affec...
Source: Case Reports in Neurology - December 23, 2015 Category: Neurology Source Type: research

Recurrent Episodes of Stroke-Like Symptoms in a Patient with Charcot-Marie-Tooth Neuropathy X Type 1 (CMTX1) (P5.028)
Conclusion: This case illustrates CMT1X as a rare cause of transient neurological deficit and demonstrates the associated reversible abnormalities on MRI imaging.Disclosure: Dr. Wu has nothing to disclose. Dr. Said Said has nothing to disclose. Dr. Sabat has nothing to disclose. Dr. Wicklund has received personal compensation for activities with Genzyme as a speaker. Dr. Wicklund has received research support from Eli-Lilly & Company, Sarepta Therapeutics, BioMarin, and Genzyme. Dr. Stahl has nothing to disclose.
Source: Neurology - April 3, 2016 Category: Neurology Authors: Wu, N., Said Said, S., Sabat, S., Wicklund, M., Stahl, M. Tags: Genetics of Peripheral Neuropathies Source Type: research

CNS involvement in CMTX1 caused by a novel connexin 32 mutation: a 6-year follow-up in neuroimaging and nerve conduction
Abstract X-linked Charcot-Marie-Tooth disease, type 1 (CMTX1) is one of the most common inherited neurological disorders. Obvious CNS involvement is relatively rare in CMTX1 patients. A 24-year-old male with CMTX1 presented with three transient stroke-like attacks, and was followed up regularly for 6 years with brain MRI and electrophysiological examination. Transient symmetrical high signals on T2 imaging and restricted diffusion were found in bilateral deep white matter. Electrophysiological measurement revealed a sensorimotor peripheral neuropathy with slightly reduced nerve conduction velocities. A novel thym...
Source: Neurological Sciences - April 19, 2016 Category: Neurology Source Type: research

Interosseous membrane window size for tibialis posterior tendon transfer —Geometrical and MRI analysis
Tibialis posterior transfer was first reported by Ober in 1933 [1]. He described the circumtibial technique. This transfer allows the foot to recover (at least partially) its dorsiflexion motion in pathologies such as Charcot-Marie-Tooth, leprosy, mononeuropathy, common peroneal nerve injury, stroke, Duchenne muscular dystrophy [2 –5,7], whenever the deformity is flexible.
Source: Foot and Ankle Surgery - September 16, 2015 Category: Orthopaedics Authors: Pablo Wagner, Cristian Ortiz, Omar Vela, Paul Arias, Diego Zanolli, Emilio Wagner Source Type: research

NIH grant will fund new JAX Resource for Research of Peripheral Neuropathy
(Jackson Laboratory) The National Institute of Neurological Disorders and Stroke has made a grant to The Jackson Laboratory to develop mouse models for inherited peripheral neuropathies and neurodegenerative diseases including Charcot-Marie-Tooth disease.
Source: EurekAlert! - Medicine and Health - August 17, 2016 Category: Global & Universal Source Type: news

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