نتایج جستجو برای: neuroaxonal dystrophy

تعداد نتایج: 22776  

2007
Peter von Rohr Michela Pedroni

Scope of the work In Figure 3 of [4] a comparison between two textbooks is shown and analyzed. The goal of this project is to implement an analogous comparison for courses. Intended results The result of this project is to compare two courses as described in [4] and to present the comparison graphically. The comparison of two different courses will be based on the representation of the courses ...

Journal: :Orphanet Journal of Rare Diseases 2020

Journal: :International journal of experimental pathology 2003
A F Van Rijk M A M Sweers G F M Merkx M Lammens H Bloemendal

We recently described a transgenic mouse strain overexpressing hamster alphaA-crystallin, a small heat shock protein, under direction of the hamster vimentin promoter. As a result myelin was degraded and axonal dystrophy in both central nervous system (especially spinal cord) and peripheral nervous system occurred. Homozygous transgenic mice developed hind limb paralysis after 8 weeks of age an...

Journal: :Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc 1993
K P Carmichael E W Howerth J E Oliver K Klappenbach

A syndrome resembling previously described feline hereditary neuroaxonal dystrophy (FHND) was diagnosed in a litter of cats. The disorder was characterized by a sudden onset of hind limb ataxia that slowly progressed to hind limb paresis and paralysis. The cats were between 6 and 9 months old when clinical signs were first noted. Histologically, there was marked ballooning of axonal processes, ...

Journal: :Arquivos De Neuro-psiquiatria 2023

Case presentation: A previously healthy 3-year-old girl was admitted with a history of loss developmental milestones since 18 months age. So far, only language delay had been noticed. It evolved from then on, frequent falls, incoordination, and truncal hypotonia. Throughout the next year, she lost ability to walk. During same began have episodes tonic seizures, partial control after introductio...

Journal: :AJNR. American journal of neuroradiology 2004
R Nuri Sener

BACKGROUND AND PURPOSE Neuroaxonal dystrophy is a rare progressive disorder of childhood characterized by mental deterioration and seizures. The diffusion-weighted and conventional MR imaging findings are reported for six cases. METHODS Six patients aged 19 months to 9 years with proved neuroaxonal dystrophy (one with the infantile form, five juvenile forms) underwent imaging at 1.5 T. Echo-p...

Journal: :The Journal of neuroscience : the official journal of the Society for Neuroscience 2011
Goichi Beck Yuki Sugiura Koei Shinzawa Shinsuke Kato Mitsutoshi Setou Yoshihide Tsujimoto Saburo Sakoda Hisae Sumi-Akamaru

Infantile neuroaxonal dystrophy (INAD) is a fatal neurodegenerative disease characterized by the widespread presence of axonal swellings (spheroids) in the CNS and PNS and is caused by gene abnormality in PLA2G6 [calcium-independent phospholipase A(2)β (iPLA(2)β)], which is essential for remodeling of membrane phospholipids. To clarify the pathomechanism of INAD, we pathologically analyzed the ...

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