Journal of the neurological sciences
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Comparative Study
No evidence for paternal inheritance of mtDNA in patients with sporadic mtDNA mutations.
With the publication of a patient with severe exercise intolerance, in whom the mutated mtDNA in muscle was shown to be paternally inherited, the strict maternal inheritance of mtDNA was challenged. Paternal mtDNA inheritance may have gone unrecognized in cases of mitochondrial disease with no clear maternal pattern of inheritance because mitochondrial haplotypes are rarely investigated in diagnostic analyses. ⋯ No evidence of paternal inheritance of mtDNA was found in this small study. Although these findings indicate that the paternal inheritance of mtDNA is rare, they do not rule out that the phenomenon may occur at a rate that could still affect genetic counselling and anthropological research.
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Comparative Study
Therapeutic effects of normal cells on ABCD1 deficient cells in vitro and hematopoietic cell transplantation in the X-ALD mouse model.
Bone marrow transplantation (BMT) is accepted as an efficient therapy for X-linked adrenoleukodystrophy (ALD). To clarify the mechanisms of this treatment, we examined the effects of hematopoietic cell transplantation (HCT) in an ATP-binding cassette, subfamily D, member 1 (ABCD1) knock out mice and co-culture of ALD patient fibroblasts with normal cells. We treated ABCD1 knock out mice with HCT using lacZ-transgenic mice as donors, which enabled us to detect donor-derived cells. ⋯ This effect was not observed when the cells were co-cultured while separated by a filter membrane. Our data suggest that supplying normal cells for ABCD1 knockout mouse by HCT corrects metabolic abnormalities in ALD tissues through a cell-mediated process. The correction requires direct cell-to-cell contact for recovering normal cell function.
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Dietary supplements containing Ephedra used for weight loss and physical performance enhancement such as "herbal ecstasy" are widely available, and it is estimated that at least 1% of the adult population have taken these products. Ephedra products including Ephedra alkaloids such as phenylpropanolamine or other ephedrine compounds are sold under different names such as Metabolife 356, Ripped Fuel, Thermadrene, and Shape-Fast Plus. ⋯ Ephedrine, like other sympathomimetic agents, predisposes patients to both ischemic and hemorrhagic strokes. People who take over the counter Ephedra products that claim to boost weight loss, increase energy, or bolster physical performance are at risk of adverse events including ischemic and hemorrhagic strokes.
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The term "small fiber sensory neuropathy" (SFSN) refers to an axonal sensory polyneuropathy predominantly affecting cutaneous sensory modalities, often associated with pain and with no evidence of large fiber involvement. We hypothesized that, in most patients, SFSN is the earliest manifestation of a nonspecific axonal neuropathy and will usually progress to involve larger, heavily myelinated sensory and motor fibers. We sought indirect evidence of this through an analysis of the correlation between symptom duration and large fiber involvement in patients with painful sensory neuropathy (PSN). ⋯ In PSN, the incidence of large fiber involvement appears to increase in proportion to symptom duration. This represents indirect evidence that SFSN usually progresses to involve both large and small fibers within 2-10 years.
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The Paced Auditory Serial Attention Task (PASAT) is an attention and information processing task used in patients with diffuse brain disorders, like cerebral trauma and multiple sclerosis (MS). Based on the PASAT we used a adapted version of the test to assess several cognitive functions with fMRI. In this study we investigated the activation pattern on a group and individual level and upon parametric stimulation. ⋯ The group mean activated areas were located mainly in the frontal and parietal lobes and those areas were also activated in the majority of the subjects, indicating limited inter-individual variation, rendering this test suitable for clinical applications in a variety of neurological disorders.