Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027066 (myoclonus)
 4,275 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Six maintenance hemodialysis patients with dialysis dementia (severe mental deterioration, speech disturbances, apraxia, facial grimacing, and myoclonus) were studied. They were matched with respect to age, duration of dialysis, and underlying renal disease with six patients who had no dementia and who acted as controls for the electroencephalographic (EEC) studies. The dementia patients had marked slowing of the EEG rhythm to 5--7 Hz with high voltage biphasic or triphasic spikes, and were clearly separated by frequency distribution analysis from the controls. Radio-iodinated serum albumin (RISA) cisternography in dementia patients demonstrated ventricular reflux, prolonged stasis, late appearance of the parasagittal strip, and persistence of RISA for up to 72--96 hr, which suggest an alteration in cerebrospinal fluid (CSF) dynamics.
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PMID:Electroencephalographic and radionuclide studies in dialysis dementia. 65 Nov 29

In the four years between 1972 and 1976 twenty out of 160 maintenance dialysis patients developed dialysis dementia. Their illness was characterized by an insidious onset of mental deterioration, speech disturbance, apraxia, and myoclonus. The disease progressed inexorably to a fatal outcome, the onset of seizures being an ominous sign, and the average duration of the illness being seven months. Routine biochemical studies were unremarkable, and osteodystrophy was not a prominent feature. Serial electroencephalograms (EEG) showed progressive slowing of the rhythm, usually antedating the neurologic symptoms. Brain scan and flow studies were normal. Radio-iodinated serum albumin (RISA) scans in seven patients showed changes suggesting altered cerebrospinal fluid (CSF) dynamics. Treatment was generally ineffective, but ventriculo-peritoneal shunting produced transient neurologic improvement in one patient. Epidemiologic investigations showed high aluminum levels in city water during the period of the outbreak.
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PMID:Dialysis dementia -- the Chicago experience. 75 Jun 11

We describe two brothers with early onset cerebellar ataxia associated with hypoalbuminemia (EOCAH). Choreo-athetoid movements preceded the cerebellar ataxia, and serum pseudocholinesterase elevation preceded the hypoalbuminemia. The parents are first cousins. Patient 1, the 22-year-old elder brother, developed choreoathetoid movements of the neck and extremities at the age of eighteen months. He later developed slowly progressive cerebellar ataxia with decreased tendon reflexes. The choreoathetoid movements ceased at about 16 years of age. A recent examination revealed cerebellar ataxia, action myoclonus of the neck and upper limbs, diminished tendon reflexes, mild sensory disturbance in the lower extremities, and very slight amyotrophy of the feet. Patient 2, the 18-year-old younger brother, developed choreo-athetoid movements at the age of 6 years, followed by slowly progressive cerebellar ataxia with disminished tendon reflexes. No scoliosis, ECG abnormalities, or edema was detected. Serum biochemistry studies revealed elevated pseudocholinesterase (6,226 to 2,390 IU) in the patient's early teens. Serum albumin levels tended to be low (3.7 to 4.1 g/dl). Serum triglyceride and beta-lipoprotein levels were elevated in the patients' late teens. Genetic studies showed slight linkage of D9S15. The maximum lod score was 0.289 (recombination fraction rate was 0.14).
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PMID:[Familial early onset cerebellar ataxia with hypoalbuminemia]. 766 33