Familial cardioneuromyopathy with hyaline masses and nemaline rods: A novel phenotype

Selcen, Duygu; Krueger, Bruce R.; Engel, Andrew G.

doi:10.1002/ana.10096

Cited by 16 publications

(6 citation statements)

References 54 publications

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“…Autoantibody testing has not been previously reported in this disease, but a case in which ANA positivity along with a muscle biopsy showing inflammation led to a mistaken diagnosis of PM has been described [8]. The myopathy in Patient 2 is less well-defined pathologically but resembles the syndrome of hyaline masses and nemaline rods recently described in familial cardioneuromyopathy [4]. Autoantibody studies have not been reported in this syndrome.…”

Section: Discussionmentioning

confidence: 99%

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Autoantibody profiles in two patients with non-autoimmune muscle disease implicate a role for gliadin autoreactivity

Olsen¹,

Prather²,

Li³

et al. 2010

Neuromuscular Disorders

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The objective of this case study was to characterize autoreactivity in two patients with non-autoimmune forms of muscle disease who had positivity for antinuclear antibodies (ANA) and Ro (SSA) autoantibodies. Serum samples from these two patients were applied to an autoantigen protein array with more than 70 specificities and were compared to samples from healthy controls and patients with systemic lupus erythematosus. Both myopathy patients had high levels of gliadin autoreactivity in serum and one patient had an overall autoantibody profile with lupus-like features. The findings suggest that some disorders of muscle that are considered nonautoimmune, may in fact have autoimmune features. Further examination of the role of subclinical gluten autoreactivity in the pathogenesis of myopathy syndromes has the potential to suggest improved approaches to diagnosis and treatment of these conditions.

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Section: Discussionmentioning

confidence: 99%

“…The sedimentation rate and CK were within normal ranges. A quadriceps muscle biopsy showed desmin-reactive hyaline bodies in the sarcoplasm of multiple myofibers, compatible with myofibrillar myopathy [4] (Figure 2). Intermittent prednisone treatment resulted in slight improvement, but she remained very weak.…”

Section: Case Reportmentioning

confidence: 99%

Autoantibody profiles in two patients with non-autoimmune muscle disease implicate a role for gliadin autoreactivity

Olsen¹,

Prather²,

Li³

et al. 2010

Neuromuscular Disorders

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“…It inhibits apoptosis by preventing the activation of procaspase 3, in which process phosphorylation of Ser59 is essential [19–21]. Ample evidence indicates the involvement of αB‐crystallin in the ubiquitin proteasome system [17,22–25], and in the aggresomal response to misfolded proteins in degenerative neuro‐ and myopathies [26–33].…”

mentioning

confidence: 99%

Mimicking phosphorylation of the small heat‐shock protein αB‐crystallin recruits the F‐box protein FBX4 to nuclear SC35 speckles

Engelsman¹,

Bennink²,

Doerwald³

et al. 2004

European Journal of Biochemistry

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The mammalian small heat shock protein aB-crystallin can be phosphorylated at three different sites, Ser19, Ser45 and Ser59. We compared the intracellular distribution of wildtype, nonphosphorylatable and all possible pseudophosphorylation mutants of aB-crystallin by immunoblot and immunocytochemical analyses of stable and transiently transfected cells. We observed that pseudophosphorylation at two (especially S19D/S45D) or all three (S19D/S45D/ S59D) sites induced the partial translocation of aB-crystallin from the detergent-soluble to the detergent-insoluble fraction. Double immunofluorescence studies showed that the pseudophosphorylation mutants localized in nuclear speckles containing the splicing factor SC35. The aB-crystallin mutants in these speckles were resistant to mild detergent treatment, and also to DNase I or RNase A digestion, indicating a stable interaction with one or more speckle proteins, not dependent on intact DNA or RNA. We further found that FBX4, an adaptor protein of the ubiquitin-protein isopeptide ligase SKP1/CUL1/F-box known to interact with pseudophosphorylated aB-crystallin, was also recruited to SC35 speckles when cotransfected with the pseudophosphorylation mutants. Because SC35 speckles also react with an antibody against aB-crystallin endogenously phosphorylated at Ser45, our findings suggest that aB-crystallin has a phosphorylation-dependent role in the ubiquitination of a component of SC35 speckles.

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“…Other gene defects implicated in nemaline myopathy comprise the slow α‐tropomyosin 3 gene at 1q22‐23, 199,200 the β‐tropomyosin 2 gene, 201 the troponin T1 gene, 202 and the sarcomeric actin gene at 1q42 187,203 , 204 . There has been also an association between nemaline rods and hyaline masses reported in a familial cardioneuromyopathy with adult onset 205 …”

Section: Nemaline Myopathymentioning

confidence: 99%

Diagnostic immunohistochemistry in neuromuscular disorders

Tews

Goebel

2005

Histopathology

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Most neuromuscular disorders display only non-specific myopathological features in routine histological preparations. However, a number of proteins, including sarcolemmal, sarcomeric, and nuclear proteins as well as enzymes with defects responsible for neuromuscular disorders, have been identified during the past two decades, allowing a more specific and firm diagnosis of muscle diseases. Identification of protein defects relies predominantly on immunohistochemical preparations and on Western blot analysis. While immunohistochemistry is very useful in identifying abnormal expression of primary protein abnormalities in recessive conditions, it is less helpful in detecting primary defects in dominantly inherited disorders. Abnormal immunohistochemical expression patterns can be confirmed by Western blot analysis which may also be informative in dominant disorders, although its role has yet to be established. Besides identification of specific protein defects, immunohistochemistry is also helpful in the differentiation of inflammatory myopathies by subtyping cellular infiltrates and demonstrating up-regulation of subtle immunological parameters such as cell adhesion molecules. The role of immunohistochemistry in denervating disorders, however, remains controversial in the absence of a reliable marker of muscle fibre denervation. Nevertheless, as well as the diagnostic value of immunocytochemical analysis it may also widen understanding of muscle fibre pathology as well as help in the development of therapeutic strategies.

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Familial cardioneuromyopathy with hyaline masses and nemaline rods: A novel phenotype

Cited by 16 publications

References 54 publications

Autoantibody profiles in two patients with non-autoimmune muscle disease implicate a role for gliadin autoreactivity

Autoantibody profiles in two patients with non-autoimmune muscle disease implicate a role for gliadin autoreactivity

Mimicking phosphorylation of the small heat‐shock protein αB‐crystallin recruits the F‐box protein FBX4 to nuclear SC35 speckles

Diagnostic immunohistochemistry in neuromuscular disorders

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