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Juvenile Huntington's Disease

Published online by Cambridge University Press:  13 June 2014

Brian O'Shea  and
Jane Falvey
Brian O'Shea
Affiliation:
Newcastle Hospital, Greystones, Co. Wicklow
Jane Falvey
Affiliation:
East Gate Unit, Middlewood Hospital, Sheffield, Yorkshire S61TP
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Abstract

A significant minority of cases of Huntington's disease commence before the age of 20 years and these juvenile cases are more likely to demonstrate paternal transmission and a clinical picture dominated by rigidity. Genetic research and positron emission tomography may make early diagnosis easier but predictive testing in childhood is replete with serious problems. There is no specific treatment for this fatal disorder. Juvenile Huntington's disease has a similar pathology and biochemistry to the adult condition despite a shorter course and certain clinical differences, such as rigidity and convulsions. Racial differences are explored.

Keywords

Juvenile Huntington's diseaserigidityWestphalrace
Type
Review Articles
Information
Irish Journal of Psychological Medicine , Volume 8 , Issue 2 , September 1991 , pp. 149 - 153
Copyright
Copyright © Cambridge University Press 1991

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References

1.Huntington, G. On chorea. Med Surg Report 1872; 26: 317–321.Google Scholar
2.Lyon, JW. Chronic hereditary chorea. Am Med Times 1863; 7: 289–290.Google Scholar
3.Westphal, C. Uber eine dem Bilde der Cerebrospinalen Grauen Degeneration ahnliche Erkrankung des zentralen Nervensystems ohne anatomischen Befund, nebst einigen Bemerkunger uber paradoxe Kontraktion. Arch Psychiat Nerven 1883; 14: 87–96 & 767–773.CrossRefGoogle Scholar
4.Joubert, J, Botha, MC. Huntington disease in South African Blacks, S Afr Med J 1988; 73: 489–494.Google ScholarPubMed
5.Hayden, MR, MacGregor, JM, Beighton, PH. The prevalence of Huntington's chorea in South Africa. S Afr Med J 1980; 58: 193–196.Google ScholarPubMed
6.Folstein, SE, Chase, GA, Wahl, WEet al.Huntington's disease in Maryland: clinical aspects of racial variation. Am J Hum Genet 1987; 41: 168–179.Google ScholarPubMed
7.O'Shea, B, Falvey, J. Huntington's disease: update of the literature. Ir J Psychol Med 1988; 5: 61–70.Google Scholar
8.Oliver, J, Dewhurst, K. Childhood and adolescent forms of Huntington's disease. J Neurol Neurosurg Psychiatry 1969; 32: 455–459.CrossRefGoogle ScholarPubMed
9.Hayden, MR. Huntington's Chorea. New York: Springer-Verlag, 1981.CrossRefGoogle ScholarPubMed
10.Davenport, CB, Muncey, EB. Huntington's chorea in relation to heredity and eugenics. Am J Insan 1916; 73: 195–222.Google Scholar
11.Spillane, J, Phillips, R. Huntington's chorea in South Wales, Quart J Med 1937; 6: 403–423.Google Scholar
12.Hayden, MR. Huntington's Chorea in South Africa. Ph.D. thesis: University of Cape Town, 1979.Google Scholar
13.Oliver, JE. Huntington's chorea in Northamptonshire. Br J Psychiatry 1970; 166: 241–253.CrossRefGoogle Scholar
14.Hayden, MR, MacGregor, JM, Saffer, DS, Beighton, PH. The high frequency of juvenile Huntington's chorea in South Africa. J Med Genet 1982; 19: 94–97.CrossRefGoogle ScholarPubMed
15.Van Dijk, JG, Van der Velde, EA, Roos, RA, Bruyn, GW. Juvenile Huntington disease. Hum Genet 1986; 73: 235–239.CrossRefGoogle ScholarPubMed
16.Hayden, MR, Soles, JA, Ward, RH. Age of onset in siblings of persons with juvenile Huntington disease. Clin Genet 1985; 28: 100–105.CrossRefGoogle ScholarPubMed
17.Osborne, JP, Munson, P, Burman, D. Huntington's chorea. Arch Disease Child 1982; 57: 99–103.CrossRefGoogle ScholarPubMed
18.Barbeau, A. Parental ascent in the juvenile form of Huntington's chorea. Lancet 1970; ii: 937.CrossRefGoogle Scholar
19.Went, LN, Vegter-van der Vlis, M, Bruyn, GW. Parental transmission in Huntington's disease. Lancet 1984; i: 1100–1102.CrossRefGoogle Scholar
20.Farrer, LA, Conneally, PM. A genetic model for age at onset in Huntington disease. Am J Hum Genet 1985; 37: 350–357.Google ScholarPubMed
21.Markson, LE, Chase, GA, Brookmeyer, R. Simulation of Huntington's disease onset. Genet Epidem 1989; 6: 451–459.CrossRefGoogle ScholarPubMed
22.Vegter-Van der Vlis, M, Volkers, WS, Went, LN. Ages of death of children with Huntington's chorea and of their affected parents. Ann Hum Genet (Lond) 1976; 39: 329–334.CrossRefGoogle ScholarPubMed
23.O'Shea, B. Huntington's disease. Ir J Psychiat 1984; 5(2): 4–12.Google Scholar
24.Shiwach, RS, Lindenbaum, RH, Miciak, A. Predicting Huntington's disease. Lancet 1990; 335: 230.CrossRefGoogle ScholarPubMed
25.Myers, RH, Vonsattel, JP, Stevens, JJet al.Clinical and neuropathological assessment of severity in Huntington's disease. Neurol 1988; 38: 341–347.CrossRefGoogle ScholarPubMed
26.Menkes, JH. Huntington disease: finding the gene and after. Ped Neurol 1988; 4: 73–78.CrossRefGoogle ScholarPubMed
27.Perry, TL, Hansen, S, Kloster, M. Huntington's chorea. Deficiency of gamma-aminobutyric acid in the brain. N Eng J Med 1973; 288: 337–342.CrossRefGoogle Scholar
28.Bachman, DS, Butler, IJ, McKhann, GM. Long-term treatment of juvenile Huntington's chorea with dipropylacetic acid. Neurol 1977; 27: 193–197.CrossRefGoogle ScholarPubMed
29.Tell, G, Bohlen, P, Schechter, PJet al. Treatment of Huntington disese with gamma-acetylenic GABA, an irreversible inhibitor of GABA-transaminase: increased CSF GABA and homocarnosine without clinical amelioration. Neurol (NY) 1981; 31: 207–211.CrossRefGoogle Scholar
30.Perry, TL, Wright, JM, Hansen, Set al. A double-blind clinical trial of isoniazid in Huntington's disease. Neurol (NY) 1982; 32: 354–358.CrossRefGoogle Scholar
31.Stober, T, Schimrigk, K, Holzer, G, Ziegler, B. Quantitative evaluation of functional capacity during isoniazid therapy in Huntington's disease. J Neurol 1983; 229: 237–245.CrossRefGoogle ScholarPubMed
32.Foster, NL, Chase, TN, Denaro, Aet al. THIP treatment of Huntington's disease. Neurol (Cleveland) 1983; 33: 637–639.CrossRefGoogle ScholarPubMed
33.Barbeau, A. L-Dopa and juvenile Huntington's disease. Lancet 1969; ii: 1066.CrossRefGoogle Scholar
34.Klawans, HL Jr, Paulson, GW, Ringel, Sp, Barbeau, A. Use of L-dopa in the detection of presymptomatic Huntington's chorea. N Eng J Med 1972; 286: 1332–1334.CrossRefGoogle ScholarPubMed
35.Low, PA, Allsop, JL, Halmagyi, GM. Huntington's chorea: The rigid form (Westphal variant) treated with levodopa. Med J Aust 1974; 1: 393–394.CrossRefGoogle ScholarPubMed
36.Krishnappa, D. Juvenile variant of Huntington's chorea. An expression of disturbed neurotransmission. Med J Aust 1984. 140: 32–34.CrossRefGoogle ScholarPubMed
37.Bird, ED, Iverson, LL. Rigidity in Huntington's chorea. Lancet 1974; i: 463.CrossRefGoogle Scholar
38.Stober, T, Sen, S, Burger, L. Bradycardia and second-degree AV block: an expression of the dominance of cholinergic activity in the rigid form of Huntington's disease. J Neurol 1983; 229: 129–132.CrossRefGoogle ScholarPubMed
39.McGeer, PL, McGeer, EG. Enzymes associated with the metabolism of catecholamines, acetylcholine and GABA in human controls and patients with Parkinson's disease and Huntington's chorea. J Neurochem 1976; 26: 65–76.CrossRefGoogle Scholar
40.Goebel, HH, Heipertz, R, Scholz, Wet al. Juvenile Huntington chorea: clinical, ultrastructural, and biochemical studies. Neurol 1978; 28: 23–31.CrossRefGoogle ScholarPubMed
41.Brooks, DS, Murphy, D, Janota, I, Lishman, WA. Early-onset Huntington's chorea. Diagnostic clues. Br J Psychiatry 1987; 151: 850–852.CrossRefGoogle ScholarPubMed
42.Matthews, PM, Evans, AC, Andermann, F, Hakim, AM. Regional cerebral glucose metabolism differs in adult and rigid juvenile forms of Huntington disease. Pediat Neurol 1989; 5: 353–356.CrossRefGoogle ScholarPubMed
43.De Volder, A, Bol, A, Michel, Cet al. Brain glucose utilization in childhood Huntington's disease studied with positron emission tomography. Brain Devel 1988; 10: 47–50.CrossRefGoogle ScholarPubMed
44.Farrer, LA, Conneally, PM. Predictability of phenotype in Huntington's disease. Arch Neurol 1987; 44: 109–113.CrossRefGoogle ScholarPubMed
45.Kessler, S. Preselection: a family coping strategy in Huntington disease. Am J Med Genet 1988; 31: 617–621.CrossRefGoogle ScholarPubMed
46.Young, AB, Shoulson, I, Penney, JBet al. Huntington's disease in Venezuela: neurologic features and functional decline. Neurol 1986; 36: 244–249.CrossRefGoogle ScholarPubMed
47.Sokol, MS, Pfeffer, CR, Solomom, GEet al. An abused psychotic preadolescent at risk for Huntington's disease. J Am Acad Child Adoles Psychiatry 1989; 28: 612–617.Google ScholarPubMed
48.Pincus, JH, Chutorian, AM. Familial benign chorea – a new entity. Transact Am Neurol Assoc 1966; 91: 319–321.Google Scholar
49.Vance, JM, Pericak-Vance, MA, Bowman, MHet al. Chorea-acanthocytosis: a report of three new families and implications for genetic counselling. Am J med Genet 1987; 28: 403–410.CrossRefGoogle ScholarPubMed
50.Morioka, E, Nakatsu, T, Kuroda, Set al. An autopsy case of dentatorubropallidoluysian atrophy showing marked atrophy of the brain stem. No To Shinkei 1987; 39: 769–773.Google ScholarPubMed
51.Schady, W, Meara, R J. Hereditary progressive chorea without dementia. J Neurol Neurosurg Psychiatry 1988; 51: 295–297.CrossRefGoogle ScholarPubMed
52.Giroud, M, Fabre, JL, Putelat, Ret al. Can metoclopramide reveal Huntington's chorea? Lancet 1982; ii: 1153.CrossRefGoogle Scholar
53.Hammer, J, Machler, M, Schmid, W, Schomig-Spingler, M. Linked DNA markers in clinical diagnosis of juvenile Huntington's disease. Lancet 1987; ii: 1088–1089.CrossRefGoogle Scholar
54.Schomig-Spingler, M, Hammer, J, Kruse, K. DNA analysis in Huntington disease. Eur J Ped 1989; 148: 447–449.CrossRefGoogle ScholarPubMed
55.Falvey, J, O'Shea, B. Huntington's chorea: the role of history-taking and medical records in diagnosis. Psychiat Nurs 1983; 2(5): 11–13.Google Scholar
56.Harper, PS, Sarfarazi, M. Genetic prediction and family structure in Huntington's chorea. Br Med J 1985; 290: 1929–1931.CrossRefGoogle ScholarPubMed
57.Smuri, JF, Weaver, DD. Presymptomatic testing for Huntington chorea: guidelines for moral and social accountability. Am J Med Genet 1987; 26: 247–257.CrossRefGoogle Scholar
58.Bloch, M, Hayden, MR. Predictive testing for Huntington disease in childhood: challenges and implications. Am J Hum Genet 1990; 46: 1–4.Google ScholarPubMed
59.Bloch, M, Fahy, M, Fox, S, Hayden, MR. Predictive testing for Huntington's disease: II. Demographic characteristics, life-style patterns, attitudes, and psychosocial assessments of the first fifty-one test candidates. Am J Med Genet 1989; 32: 217–224.CrossRefGoogle ScholarPubMed
60.Crauford, D, Dodge, A, Kerzin-Storrar, L, Harris, R. Uptake of presymptomatic predictive testing for Huntington's disease. Lancet 1989; ii: 603–605.CrossRefGoogle Scholar
61.Morris, M J, Tyler, A, Lazarou, L, Meredith, L. Problems in genetic prediction for Huntington's disease. Lancet 1989; ii: 601–603.CrossRefGoogle Scholar
62.O'Shea, B. Huntington's disease – the experiences of voluntary organisations. Psychiat Bull 1989; 13: 400–411 & 14: 19.CrossRefGoogle Scholar
63.Wolff, G. Huntington disease carrier status and the problems involved for those affected. A psychotherapeutic experience. Clin Genet 1988; 34: 172–175.CrossRefGoogle ScholarPubMed
64.Waye, MF. Treatment of an adolescent behaviour disorder with a diagnosis of Huntington's chorea. J Behav Ther Exp Psychiat 1980; 11: 239–242.CrossRefGoogle Scholar
65.Sands, RG. Social work with victims of Huntington's disease. Soc Work Health Care 1984; 9: 63–67.CrossRefGoogle ScholarPubMed
66.Storhaug, K, Vandvik, IH. Frambu Health Centre: promoting family focused care for disabled children. Int J Rehab Res 1983; 6: 175–182.CrossRefGoogle Scholar
67.Harper, PS, Tyler, A. Huntington's chorea: problems in adoption and fostering. Adopt Foster 1985; 9(3): 47–51.CrossRefGoogle Scholar
68.Korer, J, Fitzsimmons, JS. The effect of Huntington's chorea on family life. Br J Soc Wk 1985; 15: 581–597.Google Scholar
69.Gusella, JF, Wexler, NS, Connealy, PMet al. A polymorphic DNA marker genetically linked to Huntington's disease. Nature 1983; 306: 234–238.CrossRefGoogle ScholarPubMed