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At least 595 records · Page 33Linked to original sources
PubMed2004

Resistance training exercise and creatine in patients with Charcot-Marie-Tooth disease.

Resistance exercise and creatine supplementation independently improve strength and function in patients with certain neuromuscular diseases. The purpose of this study was to examine the effects of resistance training with and without creatine supplementation on muscle, strength, and function in patients with Charcot-Marie-Tooth (CMT) disease. Twenty patients with CMT consumed 5 g/day creatine or placebo while participating in resistance training for 12 weeks. Energy metabolites, muscle fiber type and size, strength, and timed activities of daily living were measured before and after training. There were no differences between creatine or placebo groups for any outcome. For the groups combined, exercise training increased type I muscle fiber diameter (48.2 +/- 14.2 microm vs. 55.4 +/- 14.8 microm), strength, and activities of daily living (ADL) times. Thus, patients respond to resistance training with muscle fiber adaptations, and improvements in strength and function. Creatine was not beneficial.

Activities of Daily Living↗
PubMed1996

A new mutation of the Po gene in patients with Charcot-Marie-Tooth disease type 1B: screening of the Po gene by heteroduplex analysis.

Most of Charcot-Marie-Tooth (CMT) 1 families are associated with a duplication in chromosome 17p11.2-p12, which includes the gene encoding peripheral myelin protein-22 (PMP-22). Point mutations of the Po gene have been identified in a few of the CMT 1 families in whom no duplication was found. We investigated a new mutation of the Po gene in one of those families. A to G substitution of nucleotide 389 in exon 3 resulted in Lys 131 Arg substitution. This structural change of extracellular domain of Po would alter the function of Po and result in an impairment of peripheral myelin compaction.

Adult↗
PubMed2001

Inflammatory pathological changes in a 2-year-old boy with Charcot-Marie-Tooth disease.

We report histopathological findings in a 2-year-old boy with Charcot-Marie-Tooth (CMT) 1A, which had some similarities to those of chronic inflammatory demyelinating polyneuropathy. These findings are unusual in adult CMT patients but are reported in some patients with corticosteroid-responsive hereditary motor and sensory neuropathy (HMSN) that are characterized by rapid worsening of symptoms. We administered betamethasone based on the inflammatory pathological features but no improvement was seen. Active demyelination is also reported as an early morphological feature in HMSN. It is probable that edema, active demyelination and a few onion bulb formations, which were recognized in this patient, are characteristic early histological changes of HMSN rather than those of corticosteroid-responsive HMSN.

Charcot-Marie-Tooth Disease↗
PubMed2003

Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease.

In a previous study, we have shown that N-myc downstream-regulated gene 1 (NDRG1), classified in databases as a tumor suppressor and heavy metal-response protein, is mutated in hereditary motor and sensory neuropathy Lom (HMSNL), a severe autosomal recessive form of Charcot-Marie-Tooth (CMT) disease. The private founder mutation R148X, causing HMSNL in patients of Romani ethnicity, has so far remained the only molecular defect linking NDRG1 to a specific disease phenotype. Here we report the first study aiming to assess the overall contribution of this gene to the pathogenesis of peripheral neuropathies, in cases where the most common causes of CMT disease have been excluded. Sequence analysis of NDRG1 in 104 CMT patients of diverse ethnicity identified one novel disease-causing mutation, IVS8-1G>A (g.2290787G>A), which affects the splice-acceptor site of IVS8 and results in the skipping of exon 9. The phenotype of the IVS8-1G>A homozygote was very closely related to that of HMSNL patients. In addition, we have detected homozygosity for the known R148X mutation in two affected individuals. Mutations in NDRG1 thus accounted for 2.88% of our overall group of patients, and for 4.68% of cases with demyelinating neuropathies. No other variants were identified in the coding sequence, whereas 12 single nucleotide polymorphisms were observed in the introns. Hum Mutat 22:129-135, 2003.

Adolescent↗