Neurobiol Dis. 2005 Apr;18(3):656-68.
Giambonini-Brugnoli G, Buchstaller J, Sommer L, Suter U, Mantei N.
Point mutations affecting PMP22 can cause hereditary demyelinating and dysmyelinating peripheral neuropathies. In addition, duplication and deletion of PMP22 are associated with Charcot-Marie-Tooth disease Type 1A (CMT1A) and Hereditary Neuropathy with Liability to Pressure Palsy (HNPP), respectively.

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Link to article on PubMed
by Lee YC, Soong BW, Liu YT, Lin KP, Kao KP, Wu ZA.
The Neurological Institute, Taipei Veterans General Hospital #201, Sec. 2, Shih-Pai Road, Peitou District, Taipei, Taiwan 11217 (ROC).
BACKGROUND : Myelin protein zero gene (MPZ) mutations may account for a small proportion of cases of Charcot-Marie-Tooth disease (CMT). Different MPZ mutations may be associated with different clinical and electrophysiological phenotypes.
OBJECTIVES : To expand our understanding of the characteristics of nerve conduction velocity (NCV) in patients with different MPZ mutations, the authors collected and analysed the NCV values from patients with MPZ mutations.
MATERIALS AND METHODS : The NCVs of fourteen patients from six families carrying MPZ mutations of Val58Asp, Ser63Phe, Thr65Ile,Arg98Cys, Arg98His, and Ser233fs were collected retrospectively. Five of them had received nerve conduction studies (NCS) twice. The mutations were verified by polymerase chain reaction (PCR) amplifications and nucleotide sequencing. Scatterplot analyses of median motor NCV (MNCV) versus specific MPZ mutation were performed.
RESULTS : The median MNCV varied widely, with a mean of 16.3 m/s (SD=7.7 m/s) and a range of 5.1-32.9 m/s. Median MNCVs of patients with particular MPZ mutations were similar. Moreover, Median MNCV did not change significantly over time.
CONCLUSIONS : There was concordance between median MNCV and specific MPZ mutations. However, median MNCV is not an ideal measure with which to distinguish CMT1B patients with MPZ mutations from CMT1A patients with PMP22 mutations.

From the Institute for Neuromuscular Research at The Children’s Hospital at Westmead, Australia comes a new article, by R. Ouvrier, that mentions Dejerine-Sottas. The full text is currently only available from E-med, but here’s the abstract:
Most childhood neuropathy cases are genetic in origin but about 15-20 percent are clearly acquired. The axonal degenerative forms are sometimes of metabolic origin and are occasionally specifically treatable. Until recently, their molecular basis has been poorly understood. The inherited demyelinating neuropathies, on the other hand, are caused by a variety of mutations of specific myelin proteins and are much better characterised at the molecular genetic level. In the light of a biopsy series of 260 cases of peripheral neuropathy in children, the presenting syndromes are reviewed. Particular emphasis is placed on the diagnostic approach to individual neuropathy syndromes and their likely molecular biological basis. Such syndromes include congenital hypomyelinating neuropathy, severe infantile axonal neuropathy with respiratory failure (SMARD), the Dejerine-Sottas syndrome, hereditary sensory and autonomic neuropathies, HMSN of axonal type with onset in early childhood and the now numerous forms of Charcot-Marie-Tooth disease including recently elucidated recessive forms of CMT, such as those due to EGR2, N-myc DRGI, periaxin, GDAP1 and myotubularin mutations as well as giant axonal neuropathy. Unfortunately, specific treatment is not yet available for such cases but the expansion of the understanding of these conditions gives real hope for an eventual cure.