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Quick update on Vitamin C

October 21, 2004

No vitamin C trials are planned in Germany; researchers from the University of Tuebingen are critical of the success, on the grounds that when taking a high dose of Vitamin C each person will feel more energetic and need less sleep. However, Italian Vitamin C trials begin January 2005, so more information is yet to come.

Ascorbic acid, a first generation medication for Charcot Marie Tooth disease type 1A?

October 17, 2004

From CMTUS comes word of a Med Sci (Paris) article about the effects of ascorbic acid (vitamin C) on CMT1A in mice. Transgenic mice with the disease given ascorbic acid performed significantly better on treadmill and muscle grip tests. Furthermore, nerve biopsies of the sciatic nerve showed remyelination of the nerves with normal-shaped myelin.
Though this study focused on CMT1A, it might have ramifications for Dejerine-Sottas (considered by some to be CMT3) as the gene they focused on was PMP22, which is also affected in Dejerine-Sottas. Please do not take this article as medical advice and self-medicate without consulting your doctor; further studies need to be done.
Click “more” to read the translated article.


Clinicopathological and genetic study of early-onset demyelinating neuropathy

October 10, 2004

Filed under: Genetics

Bit of bad news here: researchers studied 20 people with Dejerine-Sottas, CMT4 and other related diseases, and found several new mutations.

Abstract from Brain. 2004 Oct 6
Parman Y, Battaloglu E, Baris I, Bilir B, Poyraz M, Bissar-Tadmouri N, Williams A, Ammar N, Nelis E, Timmerman V, De Jonghe P, Necefov A, Deymeer F, Serdaroglu P, Brophy PJ, Said G.
Department of Neurology, Istanbul University, Istanbul Medical Faculty, Turkey.
Summary: Autosomal recessive demyelinating Charcot-Marie-Tooth disease (CMT4), Dejerine-Sottas disease and congenital hypomyelinating neuropathy are variants of hereditary demyelinating neuropathy of infancy, a genetically heterogeneous group of disorders. To explore the spectrum of early-onset demyelinating neuropathies further, we studied the clinicopathological and genetic aspects of 20 patients born to unaffected parents. In 19 families out of 20, consanguinity between the parents or presence of an affected sib suggested autosomal recessive transmission. Screening of various genes known to be involved in CMT4 revealed six mutations of which five are novel. Four of these novel mutations occurred in the homozygous state and include: one in GDAP1, one in MTMR2, one in PRX and one in KIAA1985. One patient was heterozygous for a novel MTMR2 mutation and still another was homozygous for the founder mutation, R148X, in NDRG1. All patients tested negative for mutations in EGR2. Histopathological examination of nerve biopsy specimens showed a severe, chronic demyelinating neuropathy, with onion bulb formation, extensive demyelination of isolated fibres and axon loss. We did not discern a specific pattern of histopathology that could be correlated to mutations in a particular gene.