Novel Biallelic PLEKHG5 Variant Associated With Intermediate Charcot-Marie-Tooth Disease: Case Report From South America. [PDF]
J Peripher Nerv SystABSTRACT 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 +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]
GliaPMP22 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 +3 more
europepmc +2 more sources
Comparison of the effect of existential therapy and acceptance and commitment therapy on death anxiety, peak experiences and mental health of patients with charcot marie tooth [PDF]
مجله علوم روانشناختی, 2023 Background: Charcot Marie Tooth (CMT) is a genetic disease in which peripheral nerves are damaged, also known as hereditary sensory and motor neuropathy.
seyedeh asghar faghani tolon +2 more
doaj
MRI biomarker assessment of neuromuscular disease progression: a prospective observational cohort study [PDF]
, 2015 BACKGROUND: A substantial impediment to progress in trials of new therapies in neuromuscular disorders is the absence of responsive outcome measures that correlate with patient functional deficits and are sensitive to early disease processes ...
Fischmann, A +7 more
core +1 more source
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
Rehabilitation interventions for foot drop in neuromuscular disease [PDF]
, 2007 "Foot drop" or "Floppy foot drop" is the term commonly used to describe weakness or contracture of the muscles around the ankle joint.
Disler, Peter B. +3 more
core +1 more source
Diagnosis of Charcot‐Marie‐Tooth Disease [PDF]
BioMed Research International, 2009 Charcot‐Marie‐Tooth (CMT) disease or hereditary motor and sensory neuropathy (HMSN) is a genetically heterogeneous group of conditions that affect the peripheral nervous system. The disease is characterized by degeneration or abnormal development of peripheral nerves and exhibits a range of patterns of genetic transmission.
Banchs, Isabel +7 more
openaire +3 more sources
Бюллетень сибирской медицины, 2011 To assess the life quality in patients with hereditary neuropathy Charcot—Marie—Tooth in the Krasnoyarsk Region. Life quality was assessed in 28 patients with confirmed diagnosis of hereditary neuropathy Charcot—Marie—Tooth, using the «EuroQuality of ...
N. A. Shnayder +2 more
doaj +1 more source
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 +4 more
core +4 more sources
What's the Function of Connexin 32 in the Peripheral Nervous System? [PDF]
, 2018 Connexin 32 (Cx32) is a fundamental protein in the peripheral nervous system (PNS) as its mutations cause the X-linked form of Charcot-Marie-Tooth disease (CMT1X), the second most common form of hereditary motor and sensory neuropathy and a demyelinating
Bortolozzi, Mario
core +1 more source