Neurofibrillary accumulation in the zebra (Equus burchelli)

Higgins, Robert; Vandevelde, M.; Hoff, E. J.; Jagar, J. E.; Cork, L C; Silberman, Martín

doi:10.1007/bf00684532

Cited by 26 publications

(5 citation statements)

References 17 publications

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“…Particularly striking examples h~ve been reported in different types of motor neuron diseases, including familial ALS (Hughes and Jerrome 1970;Takahashi et al 1972;Hirano et al 1984b), sporadic ALS (Carpenter 1968;Schochet et al 1969;Hirano et al 1984a), and infantile spinal muscular atrophy (Byers and Banker 1961;Chou and Fakadej 1971;Wiley et al 1987), as well as in spontaneous motor neuron disease in various animal species including dog (Delahunta and Shively 1974;Cork et al 1982), zebra (Higgins et al 1977), rabbit (Shields and Vandevelde 1978), cat (Vandevelde et al 1976) and pig (Higgins et al 1983). The present results, in conjunction with similar findings using transgenic technology of force accumulation of human NF-H in mouse motor neurons (Cote et al 1993), provide an unambiguous demonstration that primary alterations in neurofilament economy can 1) lead to structural changes of the type seen in these neurodegenerative disorders and 2) ultimately lead to axonal breakdown and loss.…”

Section: Discussionmentioning

confidence: 95%

“…Remarkable neurofilament accumulation in the anterior horn a-motor neurons has been found in all such cases (Delahunta and Shively 1974;Vandevelde et al 1976;Higgins et al 1977;Shields and Vandevelde 1978; Cork et al 1982;Higgins et al 1983). These studies have demonstrated that aberrant neurofilament accumulation is a common intermwiate in both early-and late-onset motor neuron disease.…”

Section: Introductionmentioning

confidence: 96%

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Neurofilaments and Motor Neuron Disease

Cleveland

Xu²

1995

Alzheimer’s Disease: Lessons From Cell Biology

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SummaryMotor neuron disease is clinically characterized by progressive muscle wasting leading to total muscle paralysis. In the most prominent disease, amyotrophic lateral sclerosis, or ALS, a long history of pathological study has firmly established that the primary lesion site is in spinal and cortical motor neurons. Although widespread loss of these neurons is seen late in the pathogenic progression, the earliest detectable abnormalities are aberrant accumulations of neurofilaments in cell bodies and proximal axons.To test whether accumulation of neurofilaments directly contributes to the pathogenic process, transgenic mice that produce high levels of neurofilaments in motor neurons have been generated. These transgenic mice show most of the hallmarks observed in motor neuron disease, including swollen perikarya with eccentrically localized nuclei, proximal axonal swellings, axonal degeneration and severe skeletal muscle atrophy. These data indicate that excessive accumulation of neurofilaments can trigger selective motor neuron failure. Since such accumulation is seen both in sporadic and familial ALS, it is almost certain to be a key intermediate in the pathway of pathogenesis leading to neuronal loss.

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Section: Discussionmentioning

confidence: 95%

Section: Introductionmentioning

confidence: 96%

Neurofilaments and Motor Neuron Disease

Cleveland

Xu²

1995

Alzheimer’s Disease: Lessons From Cell Biology

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“…1C) Motor neuron disease, with symptoms resembling infan tile spinal muscular atrophy, has also been described in a number o f animal species. Remarkable neurofilament accu mulation in the anterior horn a-m otor neurons has been found in all such cases (D elahunta and Shively, 1974;Vandevelde et al, 1976;H iggins et al, 1977Shields and V andevelde, 1978;C ork et al, 1982). T hese studies have collectively fueled the speculation that neurofilam ent accu m ulation may represent a com m on initial pathology o f the m otor neuron disease process.…”

Section: Introductionmentioning

confidence: 97%

Involvement of neurofilaments in motor neuron disease

Xu¹,

Cork²,

Griffin

et al. 1993

Journal of Cell Science

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Motor neuron disease is clinically characterized by pro gressive muscle wasting leading to total muscle paraly sis. A long history of pathological study of patients has firmly established that the primary lesion site is in spinal and cortical motor neurons. In addition to the wide spread loss of these neurons, neuronal abnormalities including massive accumulation of neurofilaments in cell bodies and proximal axons have been also widely observed, particularly in the early stages of the disease. To test whether high accumulation of neurofilaments directly contributes to the pathogenic process, trans genic mice that produce high levels of neurofilaments in motor neurons have been generated. These transgenic mice show most of the hallmarks observed in motor neuron disease, including swollen perikarya with eccen trically localized nuclei, proximal axonal swellings, axonal degeneration and severe skeletal muscle atrophy. These data indicate that extensive accumulation of neurofllaments in motor neurons can trigger a neurode generative process and may be a key intermediate in the pathway of pathogenesis leading to neuronal loss.

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“…In ALS, there is preferential loss of the large, neurofilament-rich motor axons, although degeneration of large, neurofilament-rich sensory axons is also seen at a lower frequency [ 131. Moreover, immunocytochemistry and electron microscopic examination have clearly shown that accumulation and abnormal assembly of neurofilaments in motor neuron cell bodies and s o n s are common, conspicuous findings in many patients with sporadic [14, 151, cats [16], pigs [17], zebras [18], and rabbits [19].…”

mentioning

confidence: 99%

Sequence variants in human neurofilament proteins: Absence of linkage to familial amyotrophic lateral sclerosis

Vechio

Bruijn

Xu³

et al. 1996

Annals of Neurology

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Neurofilaments, assembled from NF-L (68 kd), NF-M (95 kd), and NF-H (115 kd), are the most abundant structural components in large myelinated axons, particularly those of motor neurons. Aberrant neurofilament accumulation in cell bodies and axons of motor neurons is a prominent pathological feature of several motor neuron diseases, including sporadic and familial amyotrophic lateral sclerosis (ALS). Transgenic methods have proved in mice that mutation in or increased expression of neurofilament subunits can be primary causes of motor neuron disease that mimics the neurofilamentous pathology often reported in human disease. To examine whether mutation in neurofilament subunits causes or predisposes to ALS, we used single-strand conformation polymorphism coupled with DNA sequencing to search for mutations in the entirety of the human NF-L, NF-M, and NF-H genes from 100 familial ALS patients known not to carry mutations in superoxide dismutase 1 (SOD1), as well as from 75 sporadic ALS patients. Six polypeptide sequence variants were identified in rod and tail domains of NF-L, NF-M, or NF-H. However, all were found at comparable frequency in DNAs from normal individuals and no variant cosegregated with familial disease. Two deletions found previously in NF-H genes of sporadic ALS patients were not seen in this group of familial or sporadic ALS patients.

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Neurofibrillary accumulation in the zebra (Equus burchelli)

Cited by 26 publications

References 17 publications

Neurofilaments and Motor Neuron Disease

Neurofilaments and Motor Neuron Disease

Involvement of neurofilaments in motor neuron disease

Sequence variants in human neurofilament proteins: Absence of linkage to familial amyotrophic lateral sclerosis

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