Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002736 (amyotrophic lateral sclerosis)
 19,048 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hallervorden-Spatz disease (HSD) is an extremely rare degenerative process. The familial studies point to inherited, autosomal recessive neurodegenerative disorder. Quite recently this disease gene has been identified to chromosome 20p12.3-p13. Clinical manifestations of HSD leading to death after several years of illness are most frequently observed in childhood. HSD in adults is very scarce. The case reported concerns a woman who at the age of 26 years began to suffer from slowly progressing psycho-organic syndrome with muscular rigidity, involuntary movements and dysarthria. The patient was hospitalized several times with successive diagnoses of multiple sclerosis, amyotrophic lateral sclerosis and Huntington's disease. Shortly before death magnetic resonance imaging (MRI) scan showed a decreased signal in both basal ganglia. The patient died at the age of 34 years after an eight-year illness. In the brain autopsy symmetric hyperpigmentation of globus pallidus (GP) and reticular part of substantia nigra (SN) was found. The microscopic observation revealed abundant deposits of brown pigment mostly in GP and SN. In addition, numerous spheroids disseminated in the basal ganglia, mesencephalon and medulla oblongata, as well as Lewy bodies in SN were noted. Pigment deposits expressed intensive iron positive reaction by Perls' Prussian-blue method. Based on the described neuropathological changes occurring mostly in GP and SN, Hallervorden-Spatz disease was diagnosed.
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PMID:Hallervorden-Spatz disease in an adult patient. 1070 43

We are presenting a case of Parkinson-ALS-Dementia complex in 53 years old male. Outstanding bulbar signs with muscular atrophy of tongue, muscular atrophy of shoulder girdle together with massive fasciculations (myoclonus type descending from spinal cord) have been observed. Clear Parkinson's syndrome coexisted--bradykinesia, rigidity with cogwheel resistance, "masking" of the face, disturbances of body balance and significant vegetative signs. Moreover psychological testing has shown psycho-organic syndrome of frontal type, MRI scans proved the existence of slight brain general atrophy that is most prominent in frontal et temporal poles. Diseases of this kind occur all over the world sporadically. The case of ALS--dementia complex was observed in our clinic a year ago.
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PMID:[Parkinsonism-ALS-dementia complex: case report]. 1509 46