Disease relevance of Charcot-Marie-Tooth Disease

• The Charcot-Marie Tooth disease type 1A (CMT1A) duplication and hereditary neuropathy with liability to pressure palsies (HNPP) deletion are reciprocal products of an unequal crossing-over event between misaligned flanking CMT1A-REP repeats [1].
• Isolated cases of hereditary motor and sensory neuropathy type I (HMSN I, Charcot-Marie-Tooth disease type 1) have been thought to be most frequently autosomal recessive [2].
• These data may have important implications in demyelinating diseases studies like Charcot-Marie-Tooth disease type 1B (CMT1B) [3].
• Duplication and deletion of the 1.4-Mb region in 17p12 that is delimited by two 24-kb low copy number repeats (CMT1A-REPs) represent frequent genomic rearrangements resulting in two common inherited peripheral neuropathies, Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsy (HNPP) [4].
• The mother and one son were also ataxic; one other son had additional features of Friedreich's ataxia, and a daughter had peroneal muscular atrophy as well as myoclonic epilepsy and ataxia [5].

High impact information on Charcot-Marie-Tooth Disease

• Charcot-Marie-Tooth disease type 1B (CMT1B) is genetically linked to chromosome 1q21-23 [6].
• We have investigated the peripheral myelin protein gene, PMP-22, in a family with Charcot-Marie-Tooth disease type 1A (CMT1A) [7].
• Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A [7].
• Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease [8].
• X-linked Charcot-Marie-Tooth disease (CMTX) is a form of hereditary neuropathy with demyelination [9].

Biological context of Charcot-Marie-Tooth Disease

• Genetic linkage and heterogeneity in type I Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I) [10].
• Remarkable deviations from control values were found not only in blood but also in the CSF of patients with different neuromuscular diseases, particularly in Duchenne muscular dystrophy and peroneal muscular atrophy, indicative of disturbance of the carbohydrate metabolism in the central nervous system [11].
• Duplication of the PMP-22 gene and its gene dosage effect have been postulated to be involved in the pathogenesis in the majority of individuals with Charcot-Marie-Tooth disease type 1A (CMT1A) [12].
• Schwann cell differentiation in Charcot-Marie-Tooth disease type 1A (CMT1A): normal number of myelinating Schwann cells in young CMT1A patients and neural cell adhesion molecule expression in onion bulbs [13].
• In a retrospective case series, we investigated the possible association between the DNA rearrangement found in patients with Charcot-Marie-Tooth Disease Type 1A (CMT1A) and susceptibility to the neurotoxicity of vincristine [14].

Anatomical context of Charcot-Marie-Tooth Disease

• X-linked Charcot-Marie-Tooth disease is one of a set of diseases caused by mutations in gap junction proteins called connexins [15].
• We immunohistochemically studied Oct6 expression in peripheral nerve specimens from 25 patients with various diseases including Charcot-Marie-Tooth disease type 1A (CMT1A) [16].
• Another member displayed distal motor and sensory involvement in both upper and lower limbs and thus conformed to the clinical pattern of the hypertrophic form of Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I) [17].
• A morphological study using the Golgi impregnation method was carried out on the anterior horn cells at cervical (C), thoracic (Th), and lumbar (L) levels of the spinal cord in a patient with neuronal type of Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type II) and an age-matched control [18].
• Overexpression of the 22-kDa peripheral myelin protein (PMP22) causes the inherited peripheral neuropathy, Charcot-Marie-Tooth disease type 1A (CMT1A) [19].

Gene context of Charcot-Marie-Tooth Disease

• In addition, duplication and deletion of PMP22 are associated with Charcot-Marie-Tooth disease Type 1A (CMT1A) and Hereditary Neuropathy with Liability to Pressure Palsy (HNPP), respectively [20].
• X-linked Charcot-Marie-Tooth disease: phenotypic expression of a novel mutation Ile127Ser in the GJB1 (connexin 32) gene [21].
• Mutations affecting the connexin 32 (Cx32) gene are associated with the X-linked form of the hereditary peripheral neuropathy Charcot-Marie-Tooth disease (CMTX) [22].
• MTM1 and MTM2 are mutated in X-linked myotubular myopathy and Charcot-Marie-Tooth disease (type 4B), respectively, although the mechanisms whereby MTM dysfunction leads to these diseases is unknown [23].
• Charcot-Marie-Tooth disease type 1A (CMT1A) is commonly associated with duplication of the peripheral myelin protein 22 (PMP22) gene [24].

References