Protein abnormalities in neuromuscular diseases. I

Wk, Engel; De, McFarlin; Ga, Drews; Rd, Wochner

doi:10.1001/jama.195.9.754

Cited by 5 publications

(4 citation statements)

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“…Loss of myelinated nerve fibres in the posterior columns of the spinal cord, degenerative changes in the anterior horns, and neuromelanosis, reduction of-the number of satellite cells and nerve cells smaller than normal in spinal root ganglia, have been described in necropsy studies by Boder and Sedgwick (1958), Strich (1966) and Aguilar et al (1968), In biopsy studies of sural nerve, small changes are described: absence of demyelination, few enlarged hyperchromatic Schwann cell nuclei, and presence of lipid cytosomes in Schwann cells Goodman et al, 1959). Muscle biopsy is described usually as normal or, in older patients, with findings suggestive of a denervation atrophy (Engel et al, 1966;Gardner and Goodman, 1969).…”

Section: Discussionmentioning

confidence: 99%

“…In the oldest patients, spinal muscular atrophy , features of peripheral neuropathy (Engel et al, 1966;Gardner and Goodman, 1969), and progressive evolution to resemble Friedreich's ataxia are described (Martin, 1966).…”

Section: Discussionmentioning

confidence: 99%

“…Necropsy reveals cerebellar degeneration (Boder and Sedgwick, 1957), loss of myelinated nerve fibres in the posterior columns of the spinal cord (Boder and Sedgwick, 1958;Strich, 1966), degenerative changes in the anterior horns, more striking in advanced cases (Aguilar et al, 1968;Goodman et al, 1969), and reduced size of the nerve cells with reduced number of the satellite cells in the dorsal root ganglia (Strich, 1966). Accepted 9 September 1976 Muscle biopsy has shown signs of denervation atrophy in advanced cases (Engel et al, 1966;Goodman et al, 1969), especially in distal muscles (Strich, 1966). Only moderate changes in Schwann cells have been described in sural nerve biopsies and necropsies (Strich, 1966;Goodman et al, 1969;Gardner and Goodman, 1969).…”

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confidence: 99%

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Abnormalities in sensory and mixed evoked potentials in ataxia-telangiectasia.

Martínez¹,

Barrio²,

Gutiérrez³

et al. 1977

Journal of Neurology, Neurosurgery & Psychiatry

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SUMMARY Electromyography, motor, sensory and mixed nerve conduction velocity, and H reflex were studied in four patients with ataxia-telangiectasia. The earliest and most striking electrophysiological finding was the reduced amplitude of evoked nerve potentials. In the oldest patient, findings suggestive of spinal atrophy and mild reduction of the motor and sensory nerve conduction velocities were found. Reduced amplitude in the evoked nerve potentials can be observed without clinical evidence of peripheral neuropathy. Electrophysiological abnormalities are more severe in older than in young patients. Sural nerve biopsy in one patient showed mild changes: loss of the largest myelinated fibres and demyelination of some fibres. The ratio between maximum conduction velocity of the sural nerve and the diameter of the largest fibres was in the lower limits of the normal range. The resemblance between electrophysiological abnormalities in Friedreich's ataxia and ataxia-telangiectasia is discussed.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

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Abnormalities in sensory and mixed evoked potentials in ataxia-telangiectasia.

Martínez¹,

Barrio²,

Gutiérrez³

et al. 1977

Journal of Neurology, Neurosurgery & Psychiatry

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“…Zinneman et a1 (1) and Lmwenthal et a1 (2) have described reduced serum concentration of gamma globulin in patients with MyD, and Wochner et al (3) showed the selective reduction of serum IgG. Most other authors have reported similar results (4,5,11,22), however, Oppenheimer et a1 (6) and Grobe et a1 (7) have not found any immunoglobulin abnormalities in their patients with MyD. In addition, there were some reports which showed reduced serum concentration of IgA (8) or IgM (9) as well as reduced serum concentration of IgG.…”

Section: Discussionmentioning

confidence: 88%

Immunoglobulin abnormalities in patients with myotonic dystrophy

Suzumura

Yamada

Matsuoka

et al. 1986

Acta Neurologica Scandinavica

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In order to further investigate immunoglobulin (Ig) abnormalities in patients with myotonic dystrophy (MyD), we examined 65 patients with MyD for their serum concentration of IgG in relation to their immunological functions as well as other clinical and laboratory findings. Turnover of IgG was also examined. We found significant and selective reduction of serum IgG in patients with MyD. The serum concentration of IgG in patients with MyD had a significant negative correlation with duration of illness, which suggested that serum IgG levels in MyD decreased constantly throughout the disease course. Peripheral blood lymphocyte subpopulations, including functional T cell subsets, in vitro lymphocyte proliferation, and in vitro IgG production were normal. The plasma cell population in bone marrow was also normal. The IgG turnover study using 125I-labelled IgG as a tracer revealed an increased extravascular IgG pool, and an increased capillary permeability of intravascular IgG into the extravascular compartment, in patients with MyD. These observations suggested that the Ig abnormalities in patients with MyD were not due to a broader immunological derangements as previously postulated by other authors. The abnormal distribution of IgG is a possible factor leading to reduced serum concentration of IgG in patients with MyD.

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Hereditäre Myopathien

Kuhn

1969

Ergebnisse Der Inneren Medizin Und Kinderheilkunde

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Protein abnormalities in neuromuscular diseases. I

Cited by 5 publications

References 0 publications

Abnormalities in sensory and mixed evoked potentials in ataxia-telangiectasia.

Abnormalities in sensory and mixed evoked potentials in ataxia-telangiectasia.

Immunoglobulin abnormalities in patients with myotonic dystrophy

Hereditäre Myopathien

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