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

Neuronal intranuclear inclusion disease is a rare, neurodegenerative disorder with onset in childhood. We report a single case natural history over 10 years and present a review of juvenile parkinsonism and neuronal intranuclear inclusion disease. Our patient was initially seen at the University of Rochester at age 12 years after 4 years of progressive dysarthria, dysphagia, and clumsiness. His neurologic examination was notable for parkinsonism. He had excellent initial response to levodopa, but subsequently developed dopa-induced motor fluctuations, dyskinesias, psychosis, and dystonia. Later in the course, he developed multiple nonmotor symptoms and ultimately died from respiratory failure. Neuropathology demonstrated large eosinophilic nuclear inclusions and small ubiquitin-related modifier 1 (SUMO-1) immunoreactivity, confirming the diagnosis of neuronal intranuclear inclusion disease. This diagnosis should be considered in a patient presenting with juvenile parkinsonism. Clues to the diagnosis include early-onset dopa-induced dyskinesias, gastrointestinal dysfunction, and oculogyric crises.
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PMID:Neuronal Intranuclear Inclusion Disease: Longitudinal Case Report of Motor and Nonmotor Symptoms. 3130 25

We report an autopsy case of amyotrophic lateral sclerosis (ALS), in which an abnormally large number of skein-like inclusions (SLIs) was found in anterior horn cells. The patient was a 73-year-old man, who presented with dysarthria. His motor neuron symptoms were predominantly of the upper-neuron type, and cognitive impairment was also noted. He died of septic shock 13 months after onset of the first neurological symptoms. Autopsy revealed marked loss of upper motor neurons, severe degeneration of the pyramidal tract, mild to moderate loss of anterior horn cells, and the appearance of many SLIs, which were immunoreactive for both pTDP-43 (phosphorylated transactivation responsive DNA-binding protein of 43 kDa) and ubiquitin, in anterior horn cells. Intra-axonal pTDP-43-positive granules arranged in a bead-like fashion were also found. The appearance of pTDP-43-positive intracytoplasmic inclusions in the brain was mostly restricted to the motor cortex. An Alzheimer type tau-pathology was found mainly in the hippocampus (Braak stage III), and many argyrophilic grains were distributed in the limbic area. Atypical ALS showing a rapid clinical course associated with cognitive impairment and predominant involvement of the upper motor neurons has recently been reported. The present case shares some clinical and pathologic findings with this type of atypical ALS. The appearance of a large number of SLIs is an unusual finding. Although its pathologic significance remains unknown, it cannot simply be ascribed to the relative preservation of anterior horn cells.
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PMID:Amyotrophic lateral sclerosis with appearance of many skein-like inclusions in anterior horn cells. 3193 14


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