Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013362 (dysarthria)
 3,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
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PMID:Neurodegeneration with features of NIFID and ALS--extended clinical and neuropathological spectrum. 1691 80

While both neuronal intermediate filament inclusion disease (NIFID) and basophilic inclusion body disease (BIBD) show frontotemporal lobar degeneration and/or motor neuron disease, it remains unclear whether, and how, these diseases differ from each other. Here, we compared the clinicopathological characteristics of four BIBD and two NIFID cases. Atypical initial symptoms included weakness, dysarthria, and memory impairment in BIBD, and dysarthria in NIFID. Dementia developed more than 1 year after the onset in some BIBD and NIFID cases. Upper and lower motor neuron signs, parkinsonism, and parietal symptoms were noted in both diseases, and involuntary movements in BIBD. Pathologically, severe caudate atrophy was consistently found in both diseases. Cerebral atrophy was distributed in the convexity of the fronto-parietal region in NIFID cases. In both BIBD and NIFID, the frontotemporal cortex including the precentral gyrus, caudate nucleus, putamen, globus pallidus, thalamus, amygdala, hippocampus including the dentate gyrus, substantia nigra, and pyramidal tract were severely affected, whereas lower motor neuron degeneration was minimal. While alpha-internexin-positive inclusions without cores were found in both NIFID cases, one NIFID case also had alpha-internexin- and neurofilament-negative, but p62-positive, cytoplasmic spherical inclusions with eosinophilic p62-negative cores. These two types of inclusions frequently coexisted in the same neuron. In three BIBD cases, inclusions were tau-, alpha-synuclein-, alpha-internexin-, and neurofilament-negative, but occasionally p62-positive. These findings suggest that: (1) the clinical features and distribution of neuronal loss are similar in BIBD and NIFID, and (2) an unknown protein besides alpha-internexin and neurofilament may play a pivotal pathogenetic role in at least some NIFID cases.
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PMID:Basophilic inclusion body disease and neuronal intermediate filament inclusion disease: a comparative clinicopathological study. 1808 Jan 29