Rare CMT 1 / HMSN caused by a novel mutation in LITAF

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Neuromuscular Disorders (October 2009) Volume 19, Issue 10, Pages 701-703

Hereditary motor and sensory neuropathy caused by a novel mutation in LITAF

Wanda Gerdinga, Judith Koettinga, Jörg Epplena, Clemens Neuschb

Abstract:

Hereditary motor-sensory neuropathy (HMSN) Type 1/CMT 1 is a disorder of the

peripheral nervous system. The underlying genetic cause is heterogeneous, and

mutations in LITAF (Lipopolysaccharide-induced TNF- & #945; factor) represent a

rare cause of CMT Type.

1. In this report, a novel missense mutation is presented in the LITAF gene

(c.430G>A p.V144M) in a German CMT family exhibiting typical

electrophysiological features of a demyelinating neuropathy with conduction

blocks and variable age at onset. Molecular genetic characterization of

demyelinating HMSN should therefore include screening of the LITAF gene if

typical signs of a non-homogenous demyelinating neuropathy combined with

dominant familial occurrence are evident.

Keywords: HMSN Type 1, CMT 1C, LITAF, Mutation

a Human Genetics, Ruhr-University, MA 5/39, 44780 Bochum, Germany

b Department of Neurology, Georg-August-University, 37099 Göttingen, Germany