Progression in nemaline myopathy

Nonaka, Ikuya; Ishiura, Shoichi; Arahata, Kiichi; Ishibashi‐Ueda, Hatsue; Maruyama, Toshisuke

doi:10.1007/bf00687709

Cited by 24 publications

(11 citation statements)

References 23 publications

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“…The myopathological changes in camptocormia differ from those of central core disease by lacking the type-1 fiber hypotrophy—in contrast, we observe a type-1 fiber hypertrophy—and the acid phosphatase reactivity of the lesions that cannot be seen in central core disease. In nemaline myopathy, an acid phosphatase reactivity within lesioned fibers has been described although in a completely different distribution than in camptocormia [29], even when a nemaline myopathy may be the cause of camptocormia in PD, as described in a single case [30]. With electron microscopy, numerous small autophagic vacuoles have been detected in the cores [29], which cannot be seen in camptocormia.…”

Section: Discussionmentioning

confidence: 99%

“…In nemaline myopathy, an acid phosphatase reactivity within lesioned fibers has been described although in a completely different distribution than in camptocormia [29], even when a nemaline myopathy may be the cause of camptocormia in PD, as described in a single case [30]. With electron microscopy, numerous small autophagic vacuoles have been detected in the cores [29], which cannot be seen in camptocormia. Nevertheless, a degradation of proteins may take place in the muscle fiber lesions seen in camptocormia.…”

Section: Discussionmentioning

confidence: 99%

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Myofibrillar disorganization characterizes myopathy of camptocormia in Parkinson’s disease

et al. 2011

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Camptocormia is a highly disabling syndrome that occurs in various diseases but is particularly associated with Parkinson’s disease (PD). Although first described nearly 200 years ago, the morphological changes associated with camptocormia are still under debate and the pathophysiology is unknown. We analyzed paraspinal muscle biopsies of 14 PD patients with camptocormia and compared the findings to sex-matched postmortem controls of comparable age to exclude biopsy site-specific changes. Camptocormia in PD showed a consistent lesion pattern composed of myopathic changes with type-1 fiber hypertrophy, loss of type-2 fibers, loss of oxidative enzyme activity, and acid phosphatase reactivity of lesions. Ultrastructurally, myofibrillar disorganization and Z-band streaming up to electron-dense patches/plaques were seen in the lesions. No aberrant protein aggregation, signs of myositis or mitochondriopathy were found, but the mitochondrial content of paraspinal muscles in patients and controls was markedly higher than known from limb biopsies. Additionally, we were able to demonstrate a link between the severity of the clinical syndrome and the degree of the myopathic changes. Because of the consistent lesion pattern, we propose criteria for the diagnosis of camptocormia in PD from muscle biopsies. The morphological changes show obvious parallels to the muscle pathology of experimental tenotomy reported in the 1970s, which depend on an intact innervation and do not occur after interruption of the myotactic reflexes. A dysregulation of the proprioception could be part of the pathogenesis of camptocormia in Parkinson’s disease, particularly in view of the clinical symptoms of rigidity and loss of muscle strength.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Myofibrillar disorganization characterizes myopathy of camptocormia in Parkinson’s disease

et al. 2011

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“…Infrequently, there is a focal increase in acid phosphatase activity in fibers, which is associated with cases with a fast evolution. This suggests a degenerative process, inducing lysosomal enzyme activation and celular destruction 13,14 . Our cases showed a predominance of type I fibers and increased acid phosphatase activity, regardless the NM clinical form.…”

Section: Fig 1 Hematoxilin-eosin (He) Stain Showing Variation In Fibmentioning

confidence: 99%

“…An NM diagnosis is made with a muscle biopsy in which modified Gomori-trichrome (MGT) staining shows the presence of nemaline bodies in muscle fibers in the subsarcolemmal or intermyofibrilar region 1,2,5,11,12 . The histochemistry also reveals features in NM such as a predominance of type I fibers and an increase in acid phosphatase activity 5,[12][13][14] . An immunohistochemical study of muscle proteins shows the nature of the structural failures in NM.…”

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confidence: 99%

Nemaline myopathy: clinical, histochemical and immunohistochemical features

Youssef

Scola

Lorenzoni

et al. 2009

Arq. Neuro-Psiquiatr.

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-Nemaline myopathy (NM) is a congenital disease that leads to hypotonia and feeding difficulties in neonates. Some cases have a more benign course, with skeletal abnormalities later in life. We analyzed a series of eight patients with NM obtained from a retrospective analysis of 4300 muscle biopsies. Patients were classified as having the typical form in five cases, intermediate form in two cases and severe form in one case. Histochemical analysis showed mixed rods distribution in all cases and predominance of type I fibers in five cases. Immunohistochemical analysis showed abnormal nebulin expression in all patients (four heterogeneous and four absent), homogeneous desmin expression in four cases, strongly positive in three and absent in one, fast myosin expression in a mosaic pattern in six cases and absent in two cases. There was no specific relation between these protein expression patterns and the clinical forms of NM.KEY WORDS: nemaline myopathy, nebulin, desmin, myosin, immunohistochemistry. miopatia nemalínica: achados clínicos, histoquímicos e imuno-histoquímicosResumo -Miopatia nemalínica (NM) é uma doença congênita que leva a hipotonia e dificuldade de sugar em neonatos. Alguns casos possuem uma evolução benigna, com deformidades ósseas tardias. Nós analisamos uma série de oito pacientes com NM obtidos da análise retrospectiva de 4300 biópsias musculares. Os pacientes foram classificados como forma típica em cinco casos, forma intermediária em dois casos e forma severa em um caso. Análise histoquímica mostrou distribuição mista dos rods em todos os casos e predominância de fibras tipo I em cinco casos. Análise imuno-histoquímica mostrou expressão anormal da nebulina em todos os pacientes (quatro heterogênea e quatro ausente), expressão homogenea da desmina em quatro casos, fortemente positiva em tres e ausente em um, expressão da miosina (rápida) com padrão em mosaico em seis casos e ausente em dois casos. Não há relação específica entre a expressão destas proteínas e as formas clínicas da NM.

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“…See table 1. Six patients received no therapy (Patients 4,6,7,9,12,14). Three of these died in 2 to 5 years (Patients 4, 9, 12); one patient was stable or improved 23 years later; one was weaker 14 months later (Patient 14); and 1 was lost to follow-up (Patient 7).…”

mentioning

confidence: 99%