Huntingtons Disease
New England Journal of MedicinePublished 13 November 1986
Jeffrey S. Flier, Lisa H. Underhill, Joseph B. Martin, James F. Gusella
Citations550
SJR quartileQ1
SJR score19.08
SNIP13.47
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TL;DR
Manifestations neurologiques et psychiatriques dans la choree de Huntington, les neurotransmetteurs dans theorettes de Huntington ou d’explorations genetiques moleculaires.
Abstract
HUNTINGTON'S disease is an autosomal dominant disorder that usually begins in mid-life and is characterized by a progression of involuntary choreiform movements, psychological change, and dementia.1 George Huntington and his father and grandfather first studied the illness in families in East Hampton, Long Island, New York. The ancestry of some cases has been traced to immigrants from Bures, England, in 1649.2 , 3 Other evidence also suggests that the disease is of European origin; cases in South Africa have been traced to Dutch settlers who emigrated there in 1658,4 and cases in Tasmania have been traced to ancestors from Somerset, England.3 These . . .
Keywords
MedicineNeuroscienceBiochemistry, Genetics and Molecular Biology
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2,604 Citations1985Jean‐Paul Vonsattel, Richard H. Myers +4 more
These studies indicate that analyses of the caudate nucleus in grade 4 would reflect mainly its astrocytic composition with a component of remote neurons projecting to the striatum, which would reflect early cellular and biochemical changes in HD.
NatureA polymorphic DNA marker genetically linked to Huntington's disease
2,341 Citations1983James F. Gusella, Nancy S. Wexler +12 more
The chromosomal localization of the Huntington's disease gene is the first step in using recombinant DNA technology to identify the primary genetic defect in this disorder.
Proceedings of the National Academy of SciencesMaternal inheritance of human mitochondrial DNA.
1,369 Citations1980Richard E. Giles, Hugues Blanc +2 more
The results of this study demonstrate that human mitochondrial DNA is maternally inherited and represents a convenient way to obtain data on mitochondrial DNA variation in both individuals and populations.
NatureReplication of the neurochemical characteristics of Huntington's disease by quinolinic acid
1,282 Citations1986M. Flint Beal, Neil W. Kowall +4 more
It is demonstrated that lesions due to quinolinic acid closely resemble those of HD as they result in marked depletions of both GABA and substance P, with selective sparing of somatostatin/neuropeptide Y neurones.
NatureLesion of striatal neurons with kainic acid provides a model for Huntington's chorea
1,247 Citations1976Joseph T. Coyle, Robert Schwarcz
It is reported that the injection of kainic acid into the rat striatum causes neuronal degeneration, neurochemical alterations and behavioural responses resembling Huntington's chorea, which could provide an animal model for the study of the disease.
NatureCloning the gene for an inherited human disorder—chronic granulomatous disease—on the basis of its chromosomal location
836 Citations1986Brigitte Royer‐Pokora, Louis M. Kunkel +7 more
The gene that is abnormal in the X-linked form of the phagocytic disorder chronic granulomatous disease has been cloned without reference to a specific protein by relying on its chromosomal map position.
ScienceSelective Sparing of a Class of Striatal Neurons in Huntington's Disease
758 Citations1985Robert J. Ferrante, N. W. Kowall +4 more
A distinct subpopulation of striatal aspiny neurons, containing the enzyme nicotinamide adenine dinucleotide phosphate diaphorase, is preserved in the caudate nucleus in Huntington's disease, and the resistance of these neurons suggests that the gene defect in Huntington't disease may be modifiable by the local biochemical environment.
ScienceEvidence for Degenerative and Regenerative Changes in Neostriatal Spiny Neurons in Huntington's Disease
622 Citations1985G. A. Graveland, R. Sanders Williams +1 more
The findings provide evidence for simultaneous degeneration and growth of spiny neurons in Huntington's disease and support the view that a specific population of neostriatal neurons is selectively involved in its pathogenesis.
Annals of NeurologyCerebral metabolism and atrophy in huntington's disease determined by <sup>18</sup>FDG and computed tomographic scan
454 Citations1982David E. Kuhl, Michael E. Phelps +4 more
The results suggest the possibility that the caudate may be hypometabolic in some asymptomatic subjects who are potential carriers of the autosomal dominant gene for HD.
Brain ResearchA Golgi study of neuronal types in the neostriatum of monkeys
357 Citations1976Marian DiFiglia, Pedro Pasik +1 more
Findings indicate that the neostriatum has 2 distinct types of spiny neurons with long axons (spiny I and II), some of which may contribute to the efferent system.
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327 Citations1981Paul E. Cooper, Madelyn H. Fernstrom +3 more
The regional distribution of somatostatin-, substance P- and neurotensin-like immunoreactivity was determined in 41 areas of 10 human brains and this distribution is consistent with the idea that peptides function as neurotransmitters within the central nervous system.
Brain ResearchRegional distribution of methionine-enkephalin and substance P-like immunoreactivity in normal human brain and in Huntington's disease
288 Citations1980P.C. Emson, Alberto Arregui +3 more
The present results confirm that there is a substantial drop in the substance P content of the globus pallidus and substantia nigra, and there was also a reduction in the Met-enkephalin content of these areas, and this result suggests the loss of striato-pallidal and Striato-nigral substance P and enkphalin-containing projections in Huntington's disease.
Brain ResearchSurvival of basal ganglia neuropeptide Y-somatostatin neurones in Huntington's disease
253 Citations1985D. Dawbarn, M.E. de Quidt +1 more
The content of both SRIF-LI and NPY-LI was found to be significantly increased in the basal ganglia of Huntington's disease brains compared with a control group.
The Journal of Comparative NeurologyImmunocytochemical localization of enkephalin in the neostriatum of rat brain: A light and electron microscopic study
240 Citations1980Virginia M. Pickel, Khushdev K. Sumal +3 more
The morphology and synaptic relations of the neurons showing ELI suggest that they may belong to the general group of medium‐sized spiny cells characterized in Golgi studies by Kemp and Powell ('71a), at least some of the peptide‐containing neurons may also have a myelinated efferent axon.
ScienceTwo Types of Somatostatin Receptors Differentiated by Cyclic Somatostatin Analogs
230 Citations1985Vinh T. Tran, M. Flint Beal +1 more
It was found that the pituitary and pancreas have predominantly one type of somatostatin receptor whereas the brain has both, and that different regions of the brain have various proportions of the two types.
Psychological MedicineThe association of affective disorder with Huntington's Disease in a case series and in families
223 Citations1983Susan E. Folstein, Margaret H. Abbott +3 more
Major affective disorder clinically similar to the disorder found in conditions other than Huntington's Disease was found in 41% of patients with HD in a consecutive case series ascertained through multiple sources in a defined geographical area.
Journal of NeuroscienceSomatostatin regulates dopamine release in rat striatal slices and cat caudate nuclei
203 Citations1983MF Chesselet, T Reisine
The results suggest that somatostatin in the striatum may play a role in the local and the distal control of dopamine release from the terminals of dopaminergic nigrostriatal neurons.
Annals of NeurologySomatostatin is increased in the basal ganglia in Huntington disease
186 Citations1983Neil Aronin, Paul E. Cooper +5 more
Concentrations of radioimmunoassayable somatostatin are increased in extracts of the caudate and putamen and internal globus pallidus in Huntington disease and a single peak of immunoreactive substance P corresponding to synthetic substance P was found by high performance liquid chromatography.
Journal of NeuroscienceUltrastructural features of immunoreactive somatostatin neurons in the rat caudate nucleus
183 Citations1982Marian DiFiglia, Neil Aronin
The morphologic features of iSS neurons closely correspond to the category of medium size aspiny neurons which have been recognized in Golgi studies and in electron microcospic studies of Golgiimpregnated and intracellular horseradish peroxidase-labeled neurons, and they differ from those ofmedium size spiny neurons identified by similar Golgi-electron microscopic methods.
The LancetREDUCED GLUTAMIC-ACID- DECARBOXYLASE ACTIVITY OF POST-MORTEM BRAIN IN HUNTINGTON'S CHOREA
168 Citations1973Edward D. Bird, Angus Mackay +2 more
Activity of glutamic-acid decarboxylase was found to be reduced by 80-90% in the basal ganglia of the choreic group when compared with the controls, suggesting that there may be a selective reduction in the activity of G.A.B.A.-containing neurons in basal Ganglia in patients with Huntington's chorea.
Journal of NeuroscienceDepletion of somatostatin-like immunoreactivity in the rat central nervous system by cysteamine
166 Citations1982Stephen M. Sagar, Donald W. Landry +4 more
Results indicate that CSH has a generalized, rapid, and largely reversible effect in depleting SLI from the rat CNS, and is largely reversible within 1 week.
NeurologyHuntington's disease
165 Citations1984Joseph B. Martin
Your contributions to the investigation of this tragic disorder are presented and a review of current ideas about the disease is reviewed.
The Journal of Comparative NeurologyA Golgi study of the human neostriatum: Neurons and afferent fibers
160 Citations1985Gerda A. Graveland, Roger Williams +1 more
Journal of NeuroscienceLight and electron microscopic localization of immunoreactive Leu- enkephalin in the monkey basal ganglia
160 Citations1982Marian DiFiglia, Neil Aronin +1 more
It appears likely that immunoreactive Leu-enkephalin is found within medium size spiny neurons (spiny type 1 in the monkey), which are known to have axon collaterals intrinsic to the caudate-putamen and to project to the globus pallidus and substantia nigra.
Life SciencesCholine in tardive dyskinesia and Huntington's disease
154 Citations1976Kenneth L. Davis, Leo E. Hollister +2 more
Choline chloride may ameliorate these movement disorders by increasing central cholinergic activity, but other mechanisms are possible, and its practical importance as a treatment needs further elucidation.
Proceedings of the National Academy of SciencesAutoradiographic visualization of angiotensin-converting enzyme in rat brain with [3H]captopril: localization to a striatonigral pathway.
146 Citations1984Stephen M. Strittmatter, Mathew M. S. Lo +2 more
Although in vitro [3H]captopril autoradiography reveals ACE in a striatonigral pathway, there is no evidence for angiotensin II involvement in such a neuronal pathway.
Journal of NeurocytologyUltrastructure of Golgi-impregnated and gold-toned spiny and aspiny neurons in the monkey neostriatum
139 Citations1980Marian DiFiglia, Tauba Pasik +1 more
Results offer unequivocal evidence for the differences in the ultrastructure of these two most common categories of medium-size neostriatal neurons, which may help in their proper identification in standard material, as well as information on the types and distributions of synaptic inputs onto these neurons.
The Annual Review of Pharmacology and ToxicologyChemical Pathology of Huntington's Disease
133 Citations1980Edward D. Bird
Postmortem brain frozen at the time of autopsy has been collected from patients dying with HD and compared with postmortem brain from psychotic patients and cases without neuropsychiatric disease, and a number of alterations in neurotransmitters and their biosynthetic enzymes have been found.
ScienceDNA Markers for Nervous System Diseases
130 Citations1984Gusella James F, Rudolph E. Tanzi +8 more
The discovery of a DNA marker linked to Huntington's disease has opened new avenues of research into this disorder and may ultimately permit cloning and characterization of the defective gene.
Psychological MedicineConduct disorder and affective disorder among the offspring of patients with Huntington's Disease
130 Citations1983Susan E. Folstein, Mary Lousie Franz +3 more
The findings indicated an increased frequency of conduct disorder in disrupted families, most especially in those where the HD parent had an early onset of symptoms and the non-HD parent showed psychiatric disorder.
NatureDeletion of Huntington's disease-linked G8 (D4S10) locus in Wolf–Hirschhorn syndrome
128 Citations1985James F. Gusella, Rudolph E. Tanzi +7 more
The discovery of this linkage marker G8 raises the possibility of developing a presymptomatic test for Huntington's disease, and of eventually isolating the disease gene based on its map position4.
Archives of NeurologyRigid and Akinetic Forms of Huntington's Chorea
102 Citations1962J. B. Bittenbender, F. A. QUADFASEL
William Osler considered Huntington's original description of chronic chorea a model of cogent observation and concise presentation and an enhanced appreciation of the variations of tone.
Annals of NeurologyHuntington'S disease: Treatment with muscimol, A GABA‐mimetic drug
87 Citations1978Ira Shoulson, David Goldblatt +2 more
The therapeutic failure of muscimol indicates that the GABA disturbance in Huntington's disease does not alone account for the clinical features of this disorder and supports a functional relationship between GABA‐ergic activity and the genesis of both dystonia and EEG abnormalities in humans.
Brain ResearchReduction in cholecystokinin-like immunoreactivity in the basal ganglia in Huntington's disease
83 Citations1980P.C. Emson, Jens F. Rehfeld +2 more
NeurologyPhysostigmine in choreiform movement disorders
80 Citations1974Daniel Tarsy, Norman A. Leopold +1 more
Intravenous physostigmine reduced chorea in Huntington's disease in only two of 12 patients, whereas choreiform movements were abolished or suppressed in five of seven patients with L-dopa-induced dyskinesias.
NeurologySomatostatin is increased in the nucleus accumbens in Huntington's disease
78 Citations1984M. Flint Beal, Edward D. Bird +2 more
The elevated concentrations of SLI in the basal ganglia in Huntington's disease do not appear to result from haloperidol therapy, and the dose-dependent reduction of SLI in striatum, parietal cortex, and hippocampus is confirmed.
The LancetMATERNAL TRANSMISSION IN HUNTINGTON'S DISEASE
76 Citations1983Richard H. Myers, David Goldman +5 more
The effect of maternal transmission on age at onset of Huntington's disease was examined and suggests a model where the late-onset form of HD is related to a maternally transmitted factor such as the mitochondrion and its genome.
ScienceHuntington's Disease: Two Families with Differing Clinical Features Show Linkage to the G8 Probe
75 Citations1985Susan E. Folstein, John A. Phillips +12 more
Although the data support the existence of a singleHD locus, use of the G8 probe for presymptomatic testing in these kindreds would have resulted in a 12 percent error rate in genotype assignment at the HD locus.
NeurologyHuntington's disease
73 Citations1976Ira Shoulson, Ronald Kartzinel +1 more
Dipropylacetic acid (DPA), an anticonvulsant known to raise brain gamma-aminobutyric acid (GABA), was administered orally to eight patients with Huntington's disease and combined DPA and GABA treatment led to an apparent increase in the central turnover of both dopamine and serotonin.
Journal of NeurologyHuntington's chorea?Measurements of somatostatin, substance P and Cyclic nucleotides in the cerebrospinal fluid
72 Citations1981H. Cramer, J. Kohler +3 more
Evidence is discussed which may support a role of somatostatin deficiency in the pathophysiology of chorea, which was determined in patients with Huntington's disease, in first generation relatives of choreic patients and in neurological control patients.
Neuroscience LettersThe effect of somatostatin on striatal catecholamines
66 Citations1984M. Flint Beal, Joseph B. Martin
The results suggest that somatostatin is involved in local regulation of striatal dopaminergic transmission and that it plays a role in regulation of dopamine release in the contralateral striatum.
Archives of NeurologyChoreoacanthocytosis
65 Citations1981Tetsuo Sakai
Acanthocytosis, tongue-biting, denervation of the peripheral nerves, and increased levels of serum creatine phosphokinase were common in four cases, three familial and one sporadic, of choreoacanthocyTosis, but were not seen in eight cases of Huntington's disease.
Life SciencesHuntington's Disease: Regional alteration in muscarinic cholinergic receptor binding in human brain
65 Citations1976Gregory J. Wastek, Lawrence Z. Stern +2 more
The apparent reduction in the number of muscarinic cholinergic receptors in the choreic brains suggests that treatment with cholinomimetic drugs might be beneficial in Huntington's Disease.
Journal of the Neurological SciencesHuntington's chorea in Victoria and Tasmania
62 Citations1964Courtney E Brothers
Archives of NeurologyA DNA Polymorphism for Huntington's Disease Marks the Future
53 Citations1985Nancy S. Wexler, P.M. Conneally +2 more
One would like to claim that the Hereditary Disease Foundation showed extraordinary prescience in choosing workshop topics in 1983, but perhaps it was more of the same good fortune that characterized the discovery of a DNA polymorphism closely linked to the gene for Huntington's disease.
Brain ResearchCholecystokinin receptors are decreased in basal ganglia and cerebral cortex of Huntington's disease
51 Citations1981Sally E. Hays, Frederick K. Goodwin +1 more
The magnitude of the reduction in CCK binding is consistent with the degree of neuronal degeneration in basal ganglia, but suggests a possibly selective loss of CCK receptor-containing neurons in cerebral cortex of Huntington's patients.
The Medical Journal of AustraliaGlutamate and Huntington's Disease
46 Citations1981Paul R. Sanberg, Graham A.R. Johnston
Very small injections of kainate into rat neostriatum have been shown to duplicate remarkably well neural and behavioural abnormalities seen in Huntington's disease.
Brain ResearchHuntington's disease is accompanied by changes in the distribution of somatostatin-containing neuronal processes
40 Citations1985Patricia Marshall, Dennis M.D. Landis
The morphology of striatal perikarya containing somatostatin-like immunoreactivity and the patterns of fiber staining in normal and Huntington's disease pallidum and substantia nigra suggest that striatal neurons containing somatic substance are local circuit neurons.
Journal of NeurochemistrySomatostatin Binding Sites in Human and Monkey Brain: Localization and Characterization
38 Citations1986M. Flint Beal, Vinh T. Tran +3 more
Pharmacologic characterization in human cortex showed that there was a correlation between the inhibition of receptor binding by somatostatin analogues and their known abilities to inhibit growth hormone secretion and there was no correlation between postmortem interval and receptor binding in human brain.
NeurologyHuntington's disease
38 Citations1986Clifford W. Shults, Luca Steardo +7 more
A controlled therapeutic trial of the somatostatin-depleting agent, cysteamine, was conducted in five patients, including one with the rigid-akinetic form, finding no consistent change in extrapyramidal or dementia scores.
NeurologyHuntington chorea is not associated with hyperactivity of nigrostriatal dopaminergic neurons
36 Citations1982Eldad Melamed, Franz Hefti +1 more
The findings suggest that the nigrostriatal projection adapts to loss of striatal neurons that normally influence dopamine release and is not hyperactive in HD chorea.
Journal of Medical GeneticsGenetic linkage between Huntington's disease and the DNA polymorphism G8 in South Wales families.
28 Citations1985Peter S. Harper, S Youngman +8 more
Analysis of the polymorphism shown by the DNA probe G8 in eight South Wales families with Huntington's disease has confirmed close genetic linkage between this marker and the disorder, the most likely genetic distance being two centimorgans (cM).
Journal of Medical GeneticsThe high frequency of juvenile Huntington's chorea in South Africa
24 Citations1982Michael R. Hayden, J M Macgregor +2 more
During a national investigation concerning all patients with Huntington's chorea in South Africa, 17 affected children, comprising 7·7% of the patients in the survey, were identified and it is possible that this unique situation is related to the genetic constitution of this latter group.