Molecular Epidemiology of Charcot-Marie-Tooth Disease in Northern Ostrobothnia, Finland: A Population-Based Study.

Background: Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuromuscular disorder with a population prevalence of 9.7-82.3/100,000.

A novel mutation of myelin protein zero associated with late-onset predominantly axonal Charcot-Marie-Tooth disease.

We report a case of late-onset predominantly axonal Charcot-Marie-Tooth disease resulting from a novel mutation in the MPZ gene encoding myelin protein zero (P0). Neurological examination, electrophysiological examination and genetic testing were performed on three members of a Finnish family (family A) and one member of a German family (family B). Three other members of the Finnish family were interviewed and genetically tested.

[Encephalopathies due to vitamin deficiency].

Encephalopathy may develop within 1 to 3 weeks upon cessation of thiamine supply. Deficiency of folic acid may require months until encephalopathy develops, whereas this may take years for vitamin B12 deficiency. It may be harmful for the patient if the impairment of cognitive functions is considered to be due to Alzheimer's disease, even though vitamin deficiency is the cause.