Results 11 to 20 of about 30,367 (239)

Novel Biallelic PLEKHG5 Variant Associated With Intermediate Charcot-Marie-Tooth Disease: Case Report From South America. [PDF]

J Peripher Nerv Syst
ABSTRACT Background and Aims Biallelic pathogenic variants in PLEKHG5 are associated with two distinct recessive phenotypes, including distal hereditary motor neuropathy AR type 4 and intermediate Charcot‐Marie‐Tooth disease type C (CMT). No South American cases have been previously reported.
Vidon RO, Tomaselli PJ, Bittar-Braune C, Pitta IJ, de Lacerda GCB, Jardim M.   +5 more
europepmc   +2 more sources

Aberrant Molecular Myelin Architecture in Charcot-Marie-Tooth Disease Type 1A and Hereditary Neuropathy With Liability to Pressure Palsies. [PDF]

Glia
PMP22 copy number variation disrupts myelin architecture at SLIs and Nodes of Ranvier. Adherens junction and axoglial domain defects are often more severe in CMT1A than HNPP. Findings support PMP22 functioning as a structural organizer of myelin. ABSTRACT Charcot–Marie–Tooth Disease Type 1A (CMT1A) and Hereditary Neuropathy with Liability to Pressure ...
Moss KR, Arowolo MA, Gutierrez DR, Höke A.   +3 more
europepmc   +2 more sources

White Matter Microstructural Correlates of Auditory Brainstem Responses in Patients With Charcot-Marie-Tooth Disease. [PDF]

Brain Behav
We quantitatively analyzed the cerebral white matter microstructure in patients with CMT using DTI. We identified cerebral white matter microstructural abnormalities in CMT patients, including the FMA and ILF. These alterations correlated with ABR interpeak latencies, suggesting impaired central auditory processing due to disrupted axonal‐myelin ...
Wang P, An Z, Huang Y, Qi W, Han X, Xia Y, Chen Z, Yang Z, Zhao P, Liu Y.   +9 more
europepmc   +2 more sources

INF2-Related Charcot-Marie-Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights. [PDF]

Ann Clin Transl Neurol
ABSTRACT Background INF2 mutations cause focal segmental glomerulosclerosis (FSGS) and Charcot–Marie–Tooth disease (CMT). Accurate genetic diagnosis is critical, as INF2‐related FSGS is typically resistant to immunotherapy yet rarely recurs after transplantation, and its associated neuropathy can mimic treatable immune‐mediated disorders such as ...
Yano C, Ando M, Higuchi Y, Yuan JH, Yoshimura A, Hobara T, Nagatomo R, Kojima F, Hiramatsu Y, Nozuma S, Nakamura T, Sakiyama Y, Matsuoka C, Yamashita T, Kimura T, Miyazaki A, Kinjo C, Yokochi K, Yamanaka N, Matsuda N, Suichi T, Hanaoka Y, Kojima H, Todo K, Ishiura H, Mitsui J, Tsuji S, Takashima H.   +27 more
europepmc   +2 more sources

Charcot–Marie–Tooth disease [PDF]

European Journal of Human Genetics, 2009
Charcot-Marie-Tooth (CMT) disease is a heterogeneous group of genetic disorders presenting with the phenotype of a chronic progressive neuropathy affecting both the motor and sensory nerves. During the last decade over two dozen genes have been identified in which mutations cause CMT. The disease illustrates a multitude of genetic principles, including
Kinga, Szigeti, James R, Lupski
openaire   +4 more sources

Clinical and genetic characteristics of Charcot–Marie–Tooth disease type 4D (type Lom) in Russia

Нервно-мышечные болезни, 2020
Introduction. Charcot–Marie–Tooth disease type 4D is a hereditary demyelinating neuropathy, that occurs with the high frequency in patients of Roma origin.
A. F. Murtazina, O. A. Shchagina, T. B. Milovidova, E. L. Dadali, G. E. Rudenskaya, S. A. Kurbatov, T. V. Fedotova, S. S. Nikitin, P. A. Sparber, M. D. Orlova, A. V. Polyakov   +10 more
doaj   +1 more source

Intermediate Charcot-Marie-Tooth disease [PDF]

Neuroscience Bulletin, 2014
Charcot-Marie-Tooth (CMT) disease is a common neurogenetic disorder and its heterogeneity is a challenge for genetic diagnostics. The genetic diagnostic procedures for a CMT patient can be explored according to the electrophysiological criteria: very slow motor nerve conduction velocity (MNCV) (45 m/s).
Lei, Liu, Ruxu, Zhang
openaire   +2 more sources

Mice Hemizygous for a Pathogenic Mitofusin-2 Allele Exhibit Hind Limb/Foot Gait Deficits and Phenotypic Perturbations in Nerve and Muscle. [PDF]

, 2016
Charcot-Marie-Tooth disease type 2A (CMT2A), the most common axonal form of hereditary sensory motor neuropathy, is caused by mutations of mitofusin-2 (MFN2). Mitofusin-2 is a GTPase required for fusion of mitochondrial outer membranes, repair of damaged
Bannerman, Peter, Burns, Travis, Miers, Laird, Pleasure, David, Xu, Jie   +4 more
core   +10 more sources

X-linked Charcot-Marie-Tooth Disease [PDF]

Journal of the Peripheral Nervous System, 2005
AbstractThe X‐linked form of Charcot‐Marie‐Tooth disease (CMT1X) is the second most common form of hereditary motor and sensory neuropathy. The clinical phenotype is characterized by progressive muscle atrophy and weakness, areflexia, and variable sensory abnormalities; central nervous system manifestations occur, too.
Scherer, Steven S., Kleopa, Kleopas A.
openaire   +2 more sources

Report of a Patient with Multiple Mutations Leading to Charcot-Marie-Tooth Disease and Distal Spinal Muscular Atrophy: A Case Report

Iranian Journal of Public Health, 2020
The Charcot-Marie-Tooth disease is a group of progressive disorders that affects the peripheral nerves and results in loss of sensation and atrophy of muscles in lower limbs.
Atefeh MEHRABI, Dariush D. FARHUD, Karim NAYERNIA, Hossein SADIGHI, Marjan ZARIF-YEGANEH   +4 more
doaj   +1 more source