Journal ArticleDOI
Is Werdnig-Hoffmann disease a pure lower motor neuron disorder?
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TLDR
It is suggested that early infantile forms of degenerative lower motor neuron disease which show prominent involvement of thalamic, primary sensory, and other neurons are but one end of the spectrum of WHD.Abstract:
It is not widely recognized that the pathology of Werdnig-Hoffman disease (WHD) may include cells other than the lower motor neuron. In the early infantile (acute) forms of this degenerative disease, neuropathologic involvement may extend well beyond the lower motor neuron territory to include neurons in spinal sensory ganglion and thalamus. The present report describes the neuropathologic findings of four patients with early infantile degenerative motor neuron disease, compares them to other reported patients, and discusses the relationship of these patients to those with classic WHD. We found involvement of thalamic and primary sensory neurons, although mild, to be a common finding in classic WHD. We suggest that early infantile forms of degenerative lower motor neuron disease which show prominent involvement of thalamic, primary sensory, and other neurons are but one end of the spectrum of WHD.read more
Citations
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The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy
Natalie Roy,Natalie Roy,Mani S. Mahadevan,Michael Mclean,Michael Mclean,Gary Shutter,Zahra Yaraghi,Zahra Yaraghi,Reza Farahani,Reza Farahani,Stephen Baird,Anne Besner-Johnston,Charles Lefebvre,Charles Lefebvre,Xiaolin Kang,Xiaolin Kang,Maysoon Salih,Huguette L. Aubry,Katsuyuki Tamai,Xiaoping Guan,Panayiotis A. Ioannou,Thomas O. Crawford,Pieter J. de Jong,Linda C. Surh,Joh-E Ikeda,Joh-E Ikeda,Robert G. Korneluk,Robert G. Korneluk,Alex MacKenzie,Alex MacKenzie +29 more
TL;DR: It is suggested that mutations in the NAIP locus may lead to a failure of a normally occurring inhibition of motor neuron apoptosis resulting in or contributing to the SMA phenotype.
Journal ArticleDOI
Alternative Splicing Events Are a Late Feature of Pathology in a Mouse Model of Spinal Muscular Atrophy
Dirk Bäumer,Sheena Lee,George Nicholson,Joanna L. Davies,Nicholas J. Parkinson,Lyndsay M. Murray,Thomas H. Gillingwater,Olaf Ansorge,Kay E. Davies,Kevin Talbot,Kevin Talbot +10 more
TL;DR: It is concluded that the majority of splicing changes occur late in SMA and may represent a secondary effect of cell injury, though one cannot rule out significant early changes in a small number of transcripts crucial to motor neuron survival.
Journal ArticleDOI
59th ENMC International Workshop: Spinal Muscular Atrophies: recent progress and revised diagnostic criteria 17–19 April 1998, Soestduinen, The Netherlands
Klaus Zerres,Kay E. Davies +1 more
Journal ArticleDOI
Expression of the SMN Gene, the Spinal Muscular Atrophy Determining Gene, in the Mammalian Central Nervous System
TL;DR: The results support the relevance of SMN for the motor neuron function and the pathogenetic role of the SMN gene in the neuronal degeneration associated with SMA.
Journal ArticleDOI
SMN deficiency disrupts brain development in a mouse model of severe spinal muscular atrophy
Thomas M. Wishart,Jack P.-W. Huang,Lyndsay M. Murray,Douglas J. Lamont,Chantal A. Mutsaers,Jenny Ross,Pascal Geldsetzer,Olaf Ansorge,Kevin Talbot,Simon H. Parson,Thomas H. Gillingwater +10 more
TL;DR: It is shown that reduced levels of SMN lead to impaired perinatal brain development in a mouse model of severe SMA and provides the first insights into cellular and molecular pathways disrupted in the brain in a severe form of SMA.
References
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Journal ArticleDOI
Familial Amyotrophic Lateral Sclerosis A Subgroup Characterized by Posterior and Spinocerebellar Tract Involvement and Hyaline Inclusions in the Anterior Horn Cells
TL;DR: In the Marianas Islands type upper motor neuron features may be more prominent initially, the mean age of onset is a few years less than that of the classic type, and, pathologically, in addition to the usual findings in ALS, there are characteristic and often widespread neurofibrillary changes, even in relatively young patients.
Journal ArticleDOI
Infantile Muscular Atrophy
TL;DR: The purpose of the present article is to call attention to the wide spectrum of its onset and severity and to correlate these features with the pathological changes.
Journal ArticleDOI
Anoxic-ischemic encephalopathy in the human neonatal period. The significance of brain stem involvement.
TL;DR: Evaluation of 16 cases of a single acute asphyxial episode either at or following birth indicates that such involvement is a frequent and characteristic aspect of anoxic encephalopathy in the infant.
Journal ArticleDOI
Progressive neuropathologic lesions in vitamin E-deficient rhesus monkeys.
TL;DR: Morphologic and morphometric studies indicated that the distal segments of the axons were affected most severely and large-caliber myelinated fibers are selectively involved in sensory axonopathy in vitamin E-deficient monkeys.
Journal ArticleDOI
The nosology of the spinal muscular atrophies.
TL;DR: It is essential to recognize the heterogeneity among the spinal muscular atrophies when giving a prognosis and for genetic counselling.
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The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy
Natalie Roy,Natalie Roy,Mani S. Mahadevan,Michael Mclean,Michael Mclean,Gary Shutter,Zahra Yaraghi,Zahra Yaraghi,Reza Farahani,Reza Farahani,Stephen Baird,Anne Besner-Johnston,Charles Lefebvre,Charles Lefebvre,Xiaolin Kang,Xiaolin Kang,Maysoon Salih,Huguette L. Aubry,Katsuyuki Tamai,Xiaoping Guan,Panayiotis A. Ioannou,Thomas O. Crawford,Pieter J. de Jong,Linda C. Surh,Joh-E Ikeda,Joh-E Ikeda,Robert G. Korneluk,Robert G. Korneluk,Alex MacKenzie,Alex MacKenzie +29 more