A Large Family with CMT 1A and Type 2 Diabetes Mellitus

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Int J Neurosci. 2006 Feb;116(2):103-114.

A LARGE FAMILY WITH CHARCOT-MARIE-TOOTH TYPE 1A AND TYPE 2 DIABETES

MELLITUS.

Koc F, Sarica Y, Yerdelen D, Baris I, Battaloglu E, Sert M.

Departments of Neurology, Cukurova University Medical School, Adana,

Turkey.

Charcot-Marie-Tooth (CMT) disease is a hereditary demyelinating

peripheral neuropathy, and CMT Type 1A is the most common form. In

most cases, CMT1A is usually caused by duplication at chromosome

17p11.2-12. Type 2 diabetes mellitus (Type 2 DM) is a common

metabolic disorder, characterized by chronic hyperglycemia that can

be associated with micro- and/or macrovascular complications. Only a

few studies reported CMT1A duplication in association with Type 2 DM.

This article explores the characteristics of a large family of 69

members with respect to CMT1A and Type 2 DM. CMT1A was detected in 28

of them. Molecular genetic study was performed in 22, and duplication

was detected in all of them. Six of the 22 members with CMT1A also

had Type 2 DM based on the American Diabetes Association diagnostic

criteria. Association of these two conditions may be coincidental;

however, the occurence of these two diseases in this large family may

also suggest a genetic basis. More extensive reports and further

investigations of such families having this combination will

certainly provide a better understanding of this link.