Dejerine-Sottas

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Peripheral neuropathies in the young child

December 30, 2004

Filed under: Journal articles

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.

Reinnervation research from The Miami Project to Cure Paralysis

December 24, 2004

Filed under: Stem Cell Research

Thanks again to CMTUS for this interesting article about current stem cell based reinnervation research. Looks promising! Click more to read the rest.
Abstract from Neuroscience. 2005;130(3):619-30
The immunophilin ligand FK506, but not the P38 kinase inhibitor SB203580, improves function of adult rat muscle reinnervated from transplants of embryonic neurons.
Grumbles RM, Casella GT, Rudinsky MJ, Godfrey S, Wood PM, Thomas CK.
The Miami Project to Cure Paralysis, Department of Neurological Surgery, University of Miami School of Medicine, Lois Pope Life Center, 1095 NW 14(th) Terrace (R48), Miami, FL 33136 USA.
Injury to the adult CNS often involves death of motoneurons, resulting in the paralysis and progressive atrophy of muscle. There is no effective therapy to replace motoneurons in the CNS. Our strategy to replace neurons and to rescue denervated muscles is to transplant dissociated embryonic day 14-15 (E14-15) ventral spinal cord cells into the distal stump of a peripheral nerve near the denervated muscles. Here, we test whether long-term delivery of two pharmacological inhibitors to denervated muscle, FK506 or SB203580, enhances reinnervation of muscle from embryonic cells transplanted in the tibial nerve of adult Fischer rats. FK506, SB203580 (2.5 mg/kg) or saline was delivered under the fascia of the medial gastrocnemius muscle for 4 weeks, beginning when muscles were denervated by section of the sciatic nerve.

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