Type 2 Research from Cyprus

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Abstract from Neurogenetics 2002 Oct;4(2):93-6

A novel NF-L mutation Pro22Ser is associated with CMT2

Georgiou DM, Zidar J, Korosec M, Middleton LT, Kyriakides T,

Christodoulou K.

The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.

Charcot-Marie-Tooth (CMT) disease is the most-common form of inherited

motor and sensory neuropathy. The autosomal dominant axonal form of the

disease (CMT2) is currently subdivided into seven types based on genetic

localization. These are CMT2A (1p35-p36), CMT2B (3q13-q22), CMT2C

(unknown), CMT2D (7p14), CMT2E (8p21),

HMNSP (3q13.1), and CMT2F (7q11-q21). Two loci have thus far been

identified for autosomal recessive CMT2; ARCMT2A (1q21.1-q21.3) and

ARCMT2B (19q13.3). Mutations in four genes (connexin 32, myelin protein

zero, neurofilament-light, and kinesin) have been associated with the

CMT2 phenotype. We identified a novel neurofilament-light missense

mutation (C64T) that causes the disease in a large Slovenian CMT2

family. This novel mutation shows complete co-segregation with the

dominantly inherited CMT2 phenotype in our family.