scholarly journals Increased α‐tocopherol metabolism in horses with equine neuroaxonal dystrophy

2021 ◽  
Author(s):  
Erin N. Hales ◽  
Hadi Habib ◽  
Gianna Favro ◽  
Scott Katzman ◽  
R. Russell Sakai ◽  
...  
Keyword(s):  
Neuroaxonal Dystrophy

The Role of Mitochondria in the Genesis of Neuroaxonal Dystrophy in the Brains of Aging Mice

1975 ◽  
Vol 33 ◽  
pp. 372-373
Author(s):  
J.E. Johnson
Keyword(s):  
Electron Microscopy ◽  
Present Report ◽  
Light And Electron Microscopy ◽  
Dorsal Column ◽  
Neuroaxonal Dystrophy ◽  
Nucleus Gracilis ◽  
Dystrophic Axons ◽  
The Brain ◽  
Nucleus Cuneatus

Although neuroaxonal dystrophy (NAD) has been examined by light and electron microscopy for years, the nature of the components in the dystrophic axons is not well understood. The present report examines nucleus gracilis and cuneatus (the dorsal column nuclei) in the brain stem of aging mice.Mice (C57BL/6J) were sacrificed by aldehyde perfusion at ages ranging from 3 months to 23 months. Several brain areas and parts of other organs were processed for electron microscopy.At 3 months of age, very little evidence of NAD can be discerned by light microscopy. At the EM level, a few axons are found to contain dystrophic material. By 23 months of age, the entire nucleus gracilis is filled with dystrophic axons. Much less NAD is seen in nucleus cuneatus by comparison. The most recurrent pattern of NAD is an enlarged profile, in the center of which is a mass of reticulated material (reticulated portion; or RP).

Effects of sorbinil, dietary myo-inositol supplementation, and insulin on resolution of neuroaxonal dystrophy in mesenteric nerves of streptozocin-induced diabetic rats

Diabetes ◽  
1991 ◽  
Vol 40 (5) ◽  
pp. 574-582 ◽  
Author(s):  
R. E. Schmidt ◽  
S. B. Plurad ◽  
B. D. Coleman ◽  
J. R. Williamson ◽  
R. G. Tilton
Keyword(s):  
Diabetic Rats ◽  
Neuroaxonal Dystrophy

Electrophysiological studies in American Quarter horses with neuroaxonal dystrophy

2012 ◽  
Vol 15 ◽  
pp. 3-7 ◽  
Author(s):  
Carrie J. Finno ◽  
Monica Aleman ◽  
Ron Ofri ◽  
Steven R. Hollingsworth ◽  
John E. Madigan ◽  
...  
Keyword(s):  
Neuroaxonal Dystrophy ◽  
Electrophysiological Studies

scholarly journals Inherited neuroaxonal dystrophy in dogs causing lethal, fetal-onset motor system dysfunction and cerebellar hypoplasia

2010 ◽  
Vol 518 (18) ◽  
pp. 3771-3784 ◽  
Author(s):  
John C. Fyfe ◽  
Raba' A. Al-Tamimi ◽  
Rudy J. Castellani ◽  
Diana Rosenstein ◽  
Daniel Goldowitz ◽  
...  
Keyword(s):  
Motor System ◽  
Neuroaxonal Dystrophy ◽  
Cerebellar Hypoplasia

scholarly journals The Natural History of Infantile Neuroaxonal Dystrophy

2020 ◽  
Author(s):  
Fadie D Altuame ◽  
Gretchen Foskett ◽  
Paldeep Atwal ◽  
Sarah Endemann ◽  
Mark Midei ◽  
...  
Keyword(s):  
Natural History ◽  
Neurodegenerative Disorder ◽  
Gastrointestinal Disease ◽  
Cerebellar Atrophy ◽  
Neuroaxonal Dystrophy ◽  
Fine Motor ◽  
Speech Impairment ◽  
Infantile Neuroaxonal Dystrophy ◽  
Significant Difference ◽  
History Of

Abstract Background: Infantile neuroaxonal dystrophy (INAD) is a rapidly progressive neurodegenerative disorder of early onset causing premature death. It results from biallelic pathogenic variants in PLA2G6, which encodes a calcium‐independent phospholipase A2. Objective: We aim to outline the natural history of INAD and provide a comprehensive description of its clinical, radiological, laboratory, and molecular findings. Materials and Methods: We comprehensively analyzed the charts of 28 patients: 16 patients from Riyadh, Saudi Arabia, 8 patients from North and South America and 4 patients from Europe with a molecularly confirmed diagnosis of PLA2G6‐associated neurodegeneration (PLAN) and a clinical history consistent with INAD.Results: In our cohort, speech impairment and loss of gross motor milestones were the earliest signs of the disease. As the disease progressed, loss of fine motor milestones and bulbar dysfunction were observed. Temporo-frontal function was among the last of the milestones to be lost. Appendicular spastic hypertonia, axial hypotonia, and hyperreflexia were common neurological findings. Other common clinical findings include nystagmus (60.7%), seizures (42.9%), gastrointestinal disease (42.9%), skeletal deformities (35.7%), and strabismus (28.6%). Cerebellar atrophy and elevations in serum AST and LDH levels were consistent features of INAD. There was a statistically significant difference when comparing patients with non-sense/truncating variants compared with missense/in-frame deletions in the time of initial concern (p = 0.04), initial loss of language (p = 0.001), initial loss of fine motor skills (p = 0.009), and initial loss of bulbar skills (p = 0.007).Conclusion: INAD is an ultra-rare neurodegenerative disorder that presents in early childhood, with a relentlessly progressive clinical course. Knowledge of the natural history of INAD may serve as a resource for healthcare providers to develop a targeted care plan and may facilitate the design of clinical trials to treat this disease.

Infantile Neuroaxonal Dystrophy or Seitelberger’s Disease

1971 ◽  
pp. 30-39 ◽  
Author(s):  
Magdeleine Berard-Badier ◽  
Danielle Gambarelli ◽  
Nicole Pinsard ◽  
Jacques Hassoun ◽  
Maurice Toga
Keyword(s):  
Neuroaxonal Dystrophy ◽  
Infantile Neuroaxonal Dystrophy ◽  
Seitelberger's Disease
Sign in / Sign up

Export Citation Format

Share Document