Parkinson's disease, Huntington's disease and tardive dyskinesia. Neurochemical pathology and treatment.
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Basal Ganglia↗
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Specificity of biophysical and biochemical alterations in erythrocyte membranes in neurological diseases: Huntington's disease, Friedreich's ataxia, Alzheimer's disease, amyotrophic lateral sclerosis, and myotonic and Duchenne muscular dystrophy.
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Alzheimer Disease↗
Cellular immune responses in Huntington disease. Specificity of brain antigenicity detected with Huntington disease lymphocytes.
This study confirms the production of migration inhibition factor by Huntington disease lymphocytes in response to antigen found in Huntington disease but not normal brain tissue. Huntington disease lymphocytes also respond to the presence of multiple sclerosis brain tissue with migration inhibition factor production.
Brain↗
Huntington disease: early indentification by H reflex testing.
This investigation was undertaken to determine the potential use of the H reflex of Hoffmann as a means of early detection of Huntington disease. Three groups of subjects were tested: 9 having Huntington disease, 8 first-generation offspring "at risk" of Huntington disease, and 30 normal persons as controls. The deep peroneal nerve was stimulated by a monopolar needle electrode, and the muscle potentials of the anterior tibialis and the extensor digitorum brevis were recorded with surface elctrodes. The action potentials were examined for the direct M response and the presence or absence of an H reflex response. The H reflex response was found in the anterior tibialis muscle, at least unilaterally if not bilaterally, in eight of nine subjects with Huntington disease and in five of eight persons at risk. The H reflex was present in 1 of 30 controls unilaterally. This significant difference between the patients with Huntington disease and at risk subjects compared to the control group, indicates that H reflex testing may be useful for the early identification of at risk individuals who will ultimately develop Huntington disease. This would be most helpful in family counseling terms, and also may aid in further understanding of this complex diseases.
Adolescent↗
Huntington disease associated with Alzheimer disease.
The clinicopathological study of a case of Huntington disease with early severe dementia is presented. The pathological findings were those of Huntington disease (atrophy with neuronal loss and astrocytosis in the neostriatum) and Alzheimer disease (neuronal loss with numerous senile plaques and neurofibrillary tangles in the neocortex). Ultrastructural study of neurofibrillary tangles showed that they were composed of twisted tubules similar to those found in Alzheimer disease.
Alzheimer Disease↗
Isoniazid therapy of Huntington disease.
We describe clinical and biochemical changes in seven patients with Huntington disease given isoniazid (INH) in dosages three to five greater than normally used in tuberculosis. Because INH inhibits the enzyme gamma-aminobutyric acid aminotransferase (GABA-T), and increases GABA content in the brains of experimental animals, it might correct the brain GABA deficiency characteristic of Huntington disease. Of six patients treated long enough to be clinically evaluated, one showed marked and two others showed signifciant improvement. High-dose INH therapy carries serious toxic risks, which are influenced by patients' acetylator phenotypes. Nevertheless, results are sufficiently promising to warrant further controlled trials of INH or other GABA-T inhibitors in Huntington disease.
4-Aminobutyrate Transaminase↗
Years of life lost due to Huntington disease.
Many genetic diseases shorten the lives of people who have them. Hence, it makes sense to speak of years of life lost due to cystic fibrosis or sickle-cell anemia or numerous other genetic disorders. In conventional practice, years of life lost is calculated for causes of death only, but a genetic disease is better understood as a risk-altering state or condition: it acts not at the time of death only but from birth onwards. Therefore, we must reformulate the concept of years of life lost before applying it to genetic conditions. This has already been done for congenital genetic diseases. This paper extends the reformulation to diseases with delayed onset. Huntington disease (HD) is used as an example.
Actuarial Analysis↗
Erythrocyte membrane alterations in Huntington disease: effects of gamma-aminobutyric acid.
The interaction of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA) with erythrocyte membranes from patients with Huntington disease and normal controls has been studied by electron spin resonance. GABA affects the physical state of erythrocyte membrane proteins in control and Huntington disease differently. In addition, after exposure of spin-labeled Huntington disease erythrocyte membranes to 0.1 mM GABA, the relevant electron spin resonance parameters reflecting the physical state of membrane proteins are indistinguishable from those of untreated control membranes. These findings support the concept that this disease is associated with a generalized membrane defect.
Electron Spin Resonance Spectroscopy↗
The visually evoked potential in Huntington disease.
The visually evoked potential was abnormal in 17 of 18 patients with Huntington disease. Both early and late wave components were affected, and the averaged amplitude for the patients was reduced in comparison with 50 normal control subjects. Despite striking attenuation and disorganization of the complex, latency of initial wave components was normal. The abnormality was not present in patients with a variety of other nonfocal cerebral disorders nor in 13 children of patients with Huntington disease.
Adolescent↗
Platelet uptake of serotonin and dopamine in Huntington disease.
We investigated kinetic and pharmacologic properties of the uptake of serotonin and dopamine by blood platelets from patients with Huntington disease and from persons at high genetic risk of developing Huntington disease. Uptake proved normal.
Adult↗
Bicaudate index in computerized tomography of Huntington disease and cerebral atrophy.
Ventricular sizes on computerized tomographic (CT) scans were compared in seven patients with Huntington disease, 20 patients with cerebral atrophy, and 20 normal controls. The bicaudate index--the ratio of the width of both lateral ventricles at the level of the heads of the caudate nuclei to the distance between the outer tables of the skull at the same level--significantly discriminated among the three groups. The bicaudate indices were: Huntington disease 0.209 +/- 0.007, cerebral atrophy 0.121 +/- 0.006, and controls 0.092 +/- 0.003.
Adult↗
Treatment of Huntington disease with a cholinergic agonist.
The involuntary movements of Huntington disease may be related to cholinergic hypofunction in the striatum. For this reason, the effect of a direct cholinergic agonist, arecoline, was studied in six patients with this disorder. Rather than improving the chorea, arecoline tended to exacerbate the choreic movements. Arecoline did produce significant alterations of blood pressure, heart rate, and body temperature, probably by central cholinergic stimulation.
Adult↗
Long term treatment of Huntington disease with L-glutamate and pyridoxine.
Decreased levels of gamma aminobutyric acid (GABA) and its synthetic enzyme, glutamic acid decarboxylase, have been found in the brains of patients with Huntington disease. In an attempt to augment GABA-mediated neurotransmission, daily doses of 25 gm of L-glutamate (the substrate for glutamic acid decarboxylase) and 500 mg of pyridoxine, its cofactor, were given to five patients with Huntington disease. This regimen was continued for 2 years. Assessment of motor and behavioral function indicated no improvement on this regimen.
Adult↗
R.H.I.S.A. -- cysternography study in sporadic choreo-athetotic syndrome accompanied with dementia (sporadic Huntington disease).
Seven patients who suffered from choreo-athetotic movements, accompanied by slowly progressive mental and affective decline over several years, without hereditary background, were admitted for clinical and psychodiagnostic tests. Laboratory examinations and anamnestic data were negative, and therefore a presumed diagnosis of sporadic Huntington disease was made. In order to verify the diagnosis, we had done P.E.G. -- Contrast study, and R.H.I.S.A. -- Cysternography. The P.E.G. -- Contrast demonstrated an enlargement of the sub-arachnoidal space and a symmetrical enlargement of the ventricular System, that may represent cortical and sub-cortical atrophy. The R.H.I.S.A. -- Cysternography Study showed in our patients the characteristics of the Mixed type Pattern: combined ventricular penetration with delayed para-sagittal absorption. Considering the results of the R.H.I.S.A. Studies, that correspond to the P.E.G. -- Contrast Studies, and its invulnerability towards patients, we presume that R.H.I.S.A. may be preferred as a diagnostic tool in Sporadic Huntington Disease.
Aged↗
Bromocriptine and dopaminergic function in Huntington disease.
The cerebrospinal fluid (CSF) content of homovanillic acid (HVA) was assayed in 10 patients with Huntington disease. On doses of less than 40 mg of bromocriptine daily, there was clinical improvement and the CSF HVA concentration increased. On higher doses of bromocriptine, chorea worsened and the CSF HVA concentration decreased. Bromocriptine at low dosage seems to act as a partial dopamine antagonist, with phenothiazine-like effects, and at higher doses it acts as a direct dopamine-receptor stimulating agent.
Adult↗
Membrane fluidity and fatty acid composition of phospholipids in erythrocyte membranes of patients with Huntington disease.
A study was undertaken to determine whether alterations in the configuration of erythrocyte membranes of patients with Huntington disease, reported by other investigators, could be reflected in membrane fluidity-viscosity. Since membrane fluidity appears to be related to the fatty acid composition of membrane phospholipids, these were also examined. Membrane fluidity, which was determined by measuring the intrinsic fluorescence of membranous tryptophan, was found to be normal. Although the range of fatty acid distribution within the various phospholipids tended to vary somewhat, the pattern was not significantly different from that of the controls.
Erythrocyte Membrane↗
An outline for the analysis of dementia. The memory disorder of Huntingtons disease.
Methods have been developed for assessing the cognitive parameters contributing to a memory disorder. Our findings suggest that individuals with Huntington disease have impairments in the encoding of new information and the consistent retrieval from storage of learned material. Their difficulties lie particularly in the realm of episodic memory.
Adult↗
Huntington disease: normal lipid composition of purified neuronal perikarya and whole cortex.
This is the first report of the lipid composition of human neurons. Neuronoal perikarya were isolated from frozen samples of the cerebral cortex of persons with Huntington disease and two normal controls. These were analyzed for total lipid, individual lipids, and gangliosides. No differences were detected between diseased and normal cells. In addition, gray matter samples from the same patients, and one additional patient and control sample, were analyzed and found not to differ. Thus the ultrastructural abnormalities seen in cortical biopsies are not reflected in the concentration of the major lipid classes.
Cerebral Cortex↗