Neurodegeneration with features of NIFID and ALS - extended clinical and neuropathological spectrum
Heterogeneous clinical and neuropathological features have been observed in the recently described neuronal intermediate filament inclusion disease (NIFID). The immunohistological findings common to all cases are alpha-internexin and neurofilament-positive neuronal cytoplasmic inclusions, which have...
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| Main Authors: | , , , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
4 August 2006
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| In: |
Brain pathology
Year: 2006, Volume: 16, Issue: 3, Pages: 228-234 |
| ISSN: | 1750-3639 |
| DOI: | 10.1111/j.1750-3639.2006.00013.x |
| Online Access: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1111/j.1750-3639.2006.00013.x
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| Author Notes: | Sigrun Roeber, Hansjoerg Bäzner, Michael Hennerici, Romy Porstmann, Hans A. Kretzschmar |
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| 245 | 1 | 0 | |a Neurodegeneration with features of NIFID and ALS - extended clinical and neuropathological spectrum |c Sigrun Roeber, Hansjoerg Bäzner, Michael Hennerici, Romy Porstmann, Hans A. Kretzschmar |
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| 520 | |a Heterogeneous clinical and neuropathological features have been observed in the recently described neuronal intermediate filament inclusion disease (NIFID). The immunohistological findings common to all cases are alpha-internexin and neurofilament-positive neuronal cytoplasmic inclusions, which have not been found in comparable density in other neurodegenerative disorders. Notwithstanding these common features, the cases reported so far have shown differences concerning age at onset, constellation and dominance of symptoms as well as type and distribution of additional neuropathological findings. Here we present the first NIFID case that exhibits severe involvement of lower motor neurons. Also, this patient may have had a clinical onset of disease in early childhood, as she was diagnosed as having dysarthria, which could not be attributed to any other cause at the age of 3 years. This case is a further contribution to the spectrum of this novel neurodegenerative disease. | ||
| 650 | 4 | |a Adolescent | |
| 650 | 4 | |a Adult | |
| 650 | 4 | |a Amyotrophic Lateral Sclerosis | |
| 650 | 4 | |a Brain | |
| 650 | 4 | |a Cerebral Palsy | |
| 650 | 4 | |a Child | |
| 650 | 4 | |a Child, Preschool | |
| 650 | 4 | |a Diagnosis, Differential | |
| 650 | 4 | |a Female | |
| 650 | 4 | |a Humans | |
| 650 | 4 | |a Immunohistochemistry | |
| 650 | 4 | |a Inclusion Bodies | |
| 650 | 4 | |a Infant | |
| 650 | 4 | |a Infant, Newborn | |
| 650 | 4 | |a Intermediate Filaments | |
| 650 | 4 | |a Nerve Degeneration | |
| 650 | 4 | |a Neurodegenerative Diseases | |
| 650 | 4 | |a Neurons | |
| 650 | 4 | |a Pantothenate Kinase-Associated Neurodegeneration | |
| 650 | 4 | |a Rett Syndrome | |
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| 700 | 1 | |a Kretzschmar, Hans A. |e VerfasserIn |4 aut | |
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