Severe demyelinating hypertrophic polyneuropathy caused by a de novo frameshift

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J Neurol Sci. 2009 Jun 15;281(1-2):113-5.

Severe demyelinating hypertrophic polyneuropathy caused by a de novo frameshift

mutation within the intracellular domain of myelin protein zero (MPZ/P0).

Zschüntzsch J, Dibaj P, Pilgram S, Kötting J, Gerding WM, Neusch C.

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

Germany.

Hereditary motor and sensory neuropathy (HMSN), also known as

Charcot-Marie-Tooth disease (CMT) is a group of clinically and genetically

heterogeneous neuropathies classically divided into demyelinating (CMT1) and

axonal forms (CMT2). The most common demyelinating form is CMT1A with an

underlying duplication in the gene coding for the peripheral myelin protein 22

(PMP22).

Less frequently, mutations in the myelin protein zero gene (MPZ/P(0)) account

for demyelinating CMT1B, Dejerine-Sottas syndrome (DSS), or congenital

hypomyelinating neuropathy (CHN). Here, we report a patient with a severe,

early-onset hypertrophic and dysmyelinating neuropathy. The patient exhibits a

novel frameshift mutation with an insertion of a single T-nucleotide on position

c.618_619 of the MPZ gene resulting in a premature stop M207fsX38.