Disease relevance of CMTX2

• Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy [1].
• Charcot-Marie-Tooth disease (CMT) is the most common inherited neuromuscular disease and is characterized by considerable clinical and genetic heterogeneity [2].
• Sensory motor neuropathy is associated with various inherited disorders including Charcot-Marie-Tooth disease, X-linked adrenoleukodystrophy/adrenomyeloneuropathy and Refsum disease [3].
• Disorganization of the neurofilament network is a prominent feature of several neurodegenerative disorders including amyotrophic lateral sclerosis (ALS), infantile spinal muscular atrophy and axonal Charcot-Marie-Tooth disease [4].
• Mutations affecting microtubule motor function have been shown to cause hereditary forms of Charcot-Marie-Tooth disease (type 2A), hereditary spastic paraplegia and motor neuron disease [5].

Psychiatry related information on CMTX2

• Charcot-Marie-Tooth disease type 2 with restless legs syndrome [6].
• Benign autosomal dominant syndrome of neuronal Charcot-Marie-Tooth disease, ptosis, parkinsonism, and dementia [7].
• Six patients had hereditary ataxia, 10 essential tremor, 4 Huntington's chorea, 2 ataxia telangiectasia, and 3 Charcot-Marie-Tooth disease [8].
• Duplications involving 17p11.2 have been reported in Charcot-Marie-Tooth disease, Dejerine-Sottas syndrome, and in a few sporadic patients with mental retardation and minor anomalies, however, no significant clinical similarity was found among these cases and the propositus [9].
• Delusional disorder and Charcot-Marie-tooth disease [10].

High impact information on CMTX2

• Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21 [11].
• Charcot-Marie-Tooth disease type 2A was previously mapped to an interval containing KIF1B [12].
• Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta [12].
• Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A [13].
• Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B [14].

Chemical compound and disease context of CMTX2

• Myotonic pupils in Charcot-Marie-Tooth disease. Successful relief of symptoms with 0.025% pilocarpine [15].
• Pupillary abnormalities in certain patients with CMTD appear secondary to a parasympathetic denervation of the iris sphincter and ciliary muscle, as shown by a positive methacholine test, and probably represent part of the autonomic nervous system dysfunction associated with the polyneuropathy in CMTD [15].
• The unusual clinical features of CMTD were associated with fasciculation, cramps, myokymia, impaired muscular relaxation and percussion myotonia with their electromyographic (EMG) correspondent, responsive to valproic acid (VPA) therapy [16].
• 5'-AMP aminohydrolase activities in red blood cells from normal human adults and from patients with pseudohypertrophic dystrophy, myotonic dystrophy, limb girdle dystrophy, neuromuscular atrophy, Charcot-Marie Tooth Disease, and spinal muscular atrophy were examined [17].

Biological context of CMTX2

• Proof of genetic heterogeneity in X-linked Charcot-Marie-Tooth disease [18].
• Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A [19].
• Charcot-Marie-Tooth disease (CMT) is the most common inherited neuropathy in humans and has been associated with a partial duplication of chromosome 17 (CMT type 1A) [20].
• These studies have yielded some surprising findings, including the discovery that two very different mutational mechanisms (duplication and point mutation) can result in a similar clinical phenotype in Charcot-Marie-Tooth disease type 1A, and that mutations involving the same gene can give rise to different clinical phenotypes [21].
• The novel disorder, named "hereditary motor and sensory neuropathy-Russe" (HMSNR), presented as a severe disabling form of Charcot-Marie-Tooth disease with prominent sensory loss, moderately reduced motor nerve conduction velocity, and a high threshold for electrical nerve stimulation [22].

Anatomical context of CMTX2

• X-linked dominant Charcot-Marie-Tooth disease and other potential gap-junction diseases of the nervous system [23].
• Mutations in P0 (MPZ), the major myelin protein of the peripheral nervous system, cause the inherited demyelinating neuropathy Charcot-Marie-Tooth disease type 1B [24].
• Charcot-Marie-Tooth disease (CMT), also known as hereditary motor and sensory neuropathy, is a heterogeneous group of slowly progressive, degenerative disorders of peripheral nerve [25].
• Autosomal dominant of Charcot-Marie-Tooth disease (CMT), whose gene is type 1B (CMT1B), has slow nerve conduction with demyelinated Schwann cells [26].
• A HOX gene mutation in a family with isolated congenital vertical talus and Charcot-Marie-Tooth disease [27].

Associations of CMTX2 with chemical compounds

• Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A) [28].
• Pyruvate oxidation in Charcot-Marie-Tooth disease [29].
• Dietary essential fatty acids, vitamin E, and Charcot-Marie-Tooth disease [30].
• Evolutionary and structural analyses of GDAP1, involved in Charcot-Marie-Tooth disease, characterize a novel class of glutathione transferase-related genes [31].
• Uneventful administration of cisplatin to a man with X-linked Charcot-Marie-Tooth disease (CMT) [32].

Other interactions of CMTX2

• MTM1, the archetypal member of this family, is mutated in X-linked myotubular myopathy, whereas mutations in the MTM-related (MTMR)2 gene cause the type 4B1 Charcot-Marie-Tooth disease, a severe hereditary motor and sensory neuropathy [33].
• The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth disease [34].
• We demonstrate here that the myotubularin-related protein MTMR2, which is mutated in the neurodegenerative disorder, type 4B Charcot-Marie-Tooth disease, is also highly specific for PI(3)P as a substrate [35].
• Mutations in the myelin protein zero gene associated with Charcot-Marie-Tooth disease type 1B [36].
• Screening for connexin 32 mutations in Charcot-Marie-Tooth disease families with possible X-linked inheritance [37].

Analytical, diagnostic and therapeutic context of CMTX2

• An animal model for Charcot-Marie-Tooth disease type 4B1 [38].
• Phenotypic analysis of neurofilament light gene mutations linked to Charcot-Marie-Tooth disease in cell culture models [39].
• Southern blot analysis using PMP-22 as a probe indicated that the PMP-22 gene was duplicated in 5 patients from unrelated Japanese families with Charcot-Marie-Tooth disease type 1 [40].
• Charcot-Marie-Tooth disease type 1: molecular pathogenesis to gene therapy [41].
• Linkage mapping of the gene for Charcot-Marie-Tooth disease type 2 to chromosome 1p (CMT2A) and the clinical features of CMT2A [42].

References