title: Influence of comorbidities on the phenotype of patients affected by Charcot-Marie-Tooth neuropathy type 1A.
abstract: Charcot-Marie-Tooth type 1A (CMT1A) is the most common inherited neuropathy. The phenotype of patients affected by CMT1A is highly variable and may be influenced by several conditions. We evaluated how comorbidities such as diabetes, hypothyroidism, exposure to toxins and obesity can modify or exacerbate the clinical and neurophysiological phenotype of CMT1A patients. Disability was measured using the classic CMT neuropathy score. Compared to controls, all groups of CMT1A patients with comorbidities had higher CMT neuropathy score. In particular, patients with CMT1A and diabetes mellitus show motor subscores which are significantly higher than in control CMT1A. Amplitudes of ulnar CMAP are lower in patients with CMT1A and diabetes mellitus, but not at a significant level. As expected, motor nerve conduction velocity is not influenced by any of the comorbidities. The presence of concomitant diseases shows a tendency to worsen the clinical and neurophysiological CMT1A phenotype, especially in patients with CMT1A and diabetes mellitus, where higher values in the CMT neuropathy score and clinical motor subscore have been observed.
authors.affiliation: Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal Infantile Sciences, University of Genoa, Italy.
authors.forename: Giulia
authors.initials: G
authors.lastname: Ursino
authors.forename: M Antonia
authors.initials: MA
authors.lastname: Alberti
authors.forename: Marina
authors.initials: M
authors.lastname: Grandis
authors.forename: Lizia
authors.initials: L
authors.lastname: Reni
authors.forename: Davide
authors.initials: D
authors.lastname: Pareyson
authors.forename: Emilia
authors.initials: E
authors.lastname: Bellone
authors.forename: Chiara
authors.initials: C
authors.lastname: Gemelli
authors.forename: Mario
authors.initials: M
authors.lastname: Sabatelli
authors.forename: Chiara
authors.initials: C
authors.lastname: Pisciotta
authors.forename: Marco
authors.initials: M
authors.lastname: Luigetti
authors.forename: Lucio
authors.initials: L
authors.lastname: Santoro
authors.forename: Laura
authors.initials: L
authors.lastname: Massollo
authors.forename: Angelo
authors.initials: A
authors.lastname: Schenone
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D015897:Comorbidity; D048909:Diabetes Complications / Q000453:epidemiology*; D006801:Humans; D007037:Hypothyroidism / Q000453:epidemiology*; D008875:Middle Aged; D009498:Neurotoxins / Q000633:toxicity; D009765:Obesity / Q000453:epidemiology*; D012189:Retrospective Studies
chemical_list: D009498:Neurotoxins
keywords: CMT; CMT1A; Diabetes; Hypothyroidism; Obesity; Phenotype; Toxic