Open AccessNeurodegeneration with Features of NIFID and ALS—Extended Clinical and Neuropathological Spectrum
Author(s) -
Roeber Sigrun,
Bäzner Hansjoerg,
Hennerici Michael,
Porstmann Romy,
Kretzschmar Hans A.
Publication year - 2006
Publication title -
brain pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.986
H-Index - 132
eISSN - 1750-3639
pISSN - 1015-6305
DOI - 10.1111/j.1750-3639.2006.00013.x
Subject(s) - neurodegeneration , disease , dysarthria , neuroscience , amyotrophic lateral sclerosis , medicine , pathology , dominance (genetics) , inclusion bodies , psychology , biology , audiology , biochemistry , escherichia coli , gene
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 α‐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.