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The current state of research with peripheral tissues in Huntington disease

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Summary

Huntington disease is a neurological autosomal dominant disease of unknown origin and the search for a suitable diagnostic marker has been extended to the peripheral tissues. It is generally believed that a membrane defect exists in Huntington disease although the evidence is controversial. It is the aim of this review to examine the validity of these claims for each of the peripheral tissues and techniques involved, and it is not intended to include all other aspects of research into Huntington disease.

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References

  • Abood ME, Butler M (1979) Membrane fluidity and fatty acid composition of phospholipids in crythrocyte membranes of patients with Huntington's disease. J Neurosci Res 4:183–187

    Google Scholar 

  • Absher PM (1975) Cristofalo VJ, Holeckova E (eds) Cell impairment in ageing and development. Plenum Press, New York London, pp 91–106

    Google Scholar 

  • Absher PM, Absher RG, Barnes WD (1974) Genealogies of clones of diploid fibroblasts. Exp Cell Res 88:95–104

    Google Scholar 

  • Aminoff MJ, Trenchard A, Turner P, Wood WG, Hills M (1974) Plasma uptake of dopamine and 5-hydroxytryptamine and plasma-catecholamine levels in patients with Huntington's chorea. Lancet ii:1115–1116

    Google Scholar 

  • Andersen HC (1978) Probes of membrane structure. Annu Rev Biochem 47:359–383

    Google Scholar 

  • Appel SH (1979) Membrane defects in Huntington's disease. Adv Neurol 23:387–396

    Google Scholar 

  • Archer FY, Mancall EL (1983a) Cultured fibroblasts in Huntington's disease. I. Effects of L-glutamic acid. Arch Neurol 40:19–23

    Google Scholar 

  • Archer FY, Mancall EL (1983b) Cultured fibroblasts in Huntington's disease. II. Effects of glucosamine. Arch Neurol 40:24

    Google Scholar 

  • Arlett CF (1980) Presymptomatic diagnosis of Huntington's disease. Lancet I:540

    Google Scholar 

  • Arlett CF, Muriel WJ (1979a) Radiosensitivity in Huntington's chorea cell strains: A possible pre-clinical diagnosis. Heredity 42:276

    Google Scholar 

  • Arlett CF (1979b) Survival and mutation rate in gamma-irradiated human cell strain from normal or cancer prone individuals. Proc VI Int Congress Rad Res, pp 596–602

  • Azzi A (1975) The use of fluorescent probes for the study of membranes. Methods in enzymology XXXII. In: Fleischer S, Packer L (eds) Biomembranes, part B. Academic Press, New York San Francisco London, pp 234–246

    Google Scholar 

  • Barbeau A, Chase TN, Paulson GW (eds) (1973) Huntington's chorea 1872–1972. Adv Neurol, vol 1. Raven Press, New York

    Google Scholar 

  • Barkley DS, Hardiwidjaja S, Menkes JH (1977a) Huntington's disease: Delayed hypersensitivity in vitro to human central nervous system antigens. Science 195:314–316

    Google Scholar 

  • Barkley DS, Hardiwidjaja JS, Menkes JH (1977b) Abnormalities in growth of skin fibroblasts of patients with Huntington's disease. Ann Neurol 1:426–430

    Google Scholar 

  • Barkley DS, Hardiwidjaja SI, Tourtelotte WW, Menkes JH (1978) Cellular immune responses in Hungtington's disease. Neurology 28:32–35

    Google Scholar 

  • Barkley DS, Hardiwidjaja SI, Menkes JH, Ellison GW, Myers LW (1980) Cellular immune responses in HD, detection of HD and multiple sclerosis brain antigenicity by HD but not MS lymphocytes. Cell Immunol 32:385–390

    Google Scholar 

  • Barnes D, Sato G (1980) Review: Methods for growth of cultured cells in serum free medium. Anal Biochem 102:255–270

    Google Scholar 

  • Belendiuk K, Belendiuk GW, Freedman DX (1980) Blood monoamine metabolism in Huntington's disease. Arch Gen Psychiatry 37:325–332

    Google Scholar 

  • Berliner L (ed) (1976) Spin labelling: Theory and applications. Academic Press, New York

    Google Scholar 

  • Beverstock GC (1983) Electron spin resonance in Huntington's disease. Neurosc Lett 39:327–328

    Google Scholar 

  • Beverstock GC, Pearson PL (1981) Membrane fluidity measurements in peripheral cells from Huntington's disease patients. J Neurol Neurosurg Psychiatry 44:684–689

    Google Scholar 

  • Beverstock GC, Pearson PL (1982) Electron spin resonance studies of erythrocyte ghost cells in Huntington's chorea. Acta Neurol Scand 65:413–423

    Google Scholar 

  • Beverstock GC, Simons JWIM (1982) Study on the variation in X-ray sensitivity of human diploid skin fibroblasts. Normal radiosensitivity of cell derived from patients with Huntington's disease. Mutat Res 96:75–87

    Google Scholar 

  • Bhuyan BK, Loughman BE, Fraser TJ Day KJ (1976) Comparison of different methods of determining cell viability after exposure to cytotoxic compounds. Exp Cell Res 97:275–280

    Google Scholar 

  • Bialas WA, Markesbury WR, Butterfield DA (1980) Increased chloride transport in erythrocytes in Huntington disease. Biochem Biophys Res Commun 95:1895–1900

    Google Scholar 

  • Bird ED (1976) Normal glutamic acid decarboxylase activity in kidney tissue from patients with Huntington disease. J Neurochem 27:1555–1557

    Google Scholar 

  • Bonilla E, Vargas-Urribarri N, Navas F (1978) Uptake of 14C dopamine in platelets of Huntington's chorea patients and symptom-free offspring. Lancet ii:161–162

    Google Scholar 

  • Borri PF, Hooghwinkel GJM, Bruijn GW (1966) Biochemical studies in Huntington's chorea. The fatty acid composition of plasma and erythrocyte lipids. Psychiatr Neurol Neurochir (Amsterdam) 69:143–148

    Google Scholar 

  • Brady RO, Rosenberg RN (1978) Autosomal dominant neurological disorders. Ann Neurol 4:548–552

    Google Scholar 

  • Brown WT, Ambruster J, Darlington GJ (1979) Two dimensional analysis of radio-labelled proteins in cultured Huntington's disease fibroblasts. Adv Neurol 23:361–370

    Google Scholar 

  • Bruijn GW (1968) Huntington's chorea; History, clinical and laboratory synopsis. In: Vinken PJ, Bruijn GW (eds) Hanbook of clinical neurology. North Holland, Amsterdam, pp 298–378

    Google Scholar 

  • Bruijn GW (1982) Neurotransmitters in Huntington's chorea—A clinicians view. Prog Brain Res, vol 55. Raven Press, New York, pp 445–464

    Google Scholar 

  • Bruijn GW, Baro F, Myrianthopoulos NC (1974) A centennial bibliography of Huntington's chorea 1872–1972. Leuvan University Press. Leuvan and Martinus Nijhoff, The Hague

    Google Scholar 

  • Butterfield DA (1977) Electron spin resonance investigations of membrane proteins in erythrocytes in muscle disease. Duchenne and myotonic muscular dystrophy and congenital myotonia. Biochim Biophys Acta 470:1–7

    Google Scholar 

  • Butterfield DA, Markesbury WR (1979) Erythrocyte membrane alterations in Huntington's disease. Adv Neurol 23:397–408

    Google Scholar 

  • Butterfield DA, Markesbury WR (1981) On the use of a piperidine maleimide spin label to investigate membrane proteins in erythrocyte membranes with reference to Huntington's disease. Biochem Int 3:517–525

    Google Scholar 

  • Butterfield DA, Markesbury WR (1982a) On the use of a piperidine maleimide spin label to investigate membrane proteins in erythrocyte membranes with reference to Huntington's disease. Biochem Int 3:517–525

    Google Scholar 

  • Butterfield DA, Markesbury WR (1982b) Time-dependence of and effects of inhibition and cellular aging on chloride efflux across erythrocyte membranes in Huntington's disease. J Neurol Sci 57:29–39

    Google Scholar 

  • Butterfield DA, Markesbury WR (1983) Spin labelling studies of membrane proteins in erythrocyte ghosts from patients with Huntington's disease. Neurosci Lett 33:221–226

    Google Scholar 

  • Butterfield DA, Roses AD, Appel SH, Chestnut DB (1976) Electron spin resonance studies of membrane proteins in erythrocytes in myotonic muscular dystrophy. Arch Biochem Biophys 177: 226–234

    Google Scholar 

  • Butterfield DA, Oeswein JQ, Markesbury WR (1977) Electron spin resonance study of membrane protein alterations in erythrocytes in Huntington's disease. Nature 267:453–455

    Google Scholar 

  • Butterfield DA, Oeswein JQ, Markesbury WR (1977) Electron spin resonance study of membrane protein alteration in erythrocytes in Huntington's disease. Nature 267:453–455

    Google Scholar 

  • Butterfield DA, Oeswein JQ, Prunty ME, Hisle KC, Markesbury WR (1978a) Increased sodium plus potassium adenosine triphosphatase activity in erythrocyte membranes in Huntington's disease. Ann Neurol 4:60–62

    Google Scholar 

  • Butterfield DA, Braden ML, Markesbury WR (1978b) Erythrocyte membrane alterations in Huntingtons disease: Effects of gamma-aminobutyric acid. J Supramol Struct Cell Biochem 9:125–130

    Google Scholar 

  • Butterfield DA, Purdy MJ, Markesbury WR (1979) Electron spin resonance, haematological and deformability, studies of erythrocytes from patients with Huntington's disease. Biochim Biophys Acta 551:452–458

    Google Scholar 

  • Butterfield DA, Doorley PF, Markesbury WR (1980) Evidence for a membrane defect in erythrocytes in Huntington's disease. Life Sci 27:609–615

    Google Scholar 

  • Butterworth RF, Gonce M, Barbeau A (1977) Platelet dopamine uptake in Huntington's chorea and Gilles de la tourette's syndrome: effect of haloperidol. Can J Neurol Sci 4:285–288

    Google Scholar 

  • Casperson TS, Farber GE, Foley J, Kudynowski EJ, Modest EJ, Simonsson E, Wagh U, Zech L (1968) Chemical differentiation along metaphase chromosomes. Exp Cell Res 49:219–222

    Google Scholar 

  • Cassiman JJ, Verlinden J, Vlietink RF, Bellemans J, van Leuven F, Deroover J, Baro F, Berghe H vd (1979) Quantitative and quantitative study of the growth and cell surface properties of Huntington's disease fibroblasts and age matched controls. Lack of significant difference. Hum Genet 53:75–86

    Google Scholar 

  • Chalikian DM, Barchi RL (1980) Fluorescent probe analysis of erythrocyte membranes in myotonic dystrophy. Neurology 30: 277–285

    Google Scholar 

  • Chase TN, Wexler NS, Barbeau A (eds) (1978) Huntington's disease. Adv Neurol, vol 23. Raven Press, New York

    Google Scholar 

  • Chen P, Kidson C, Imray PF (1981) Huntington's disease: implications of associated cellular radiosensitivity. Clin Genet 20: 331–336

    Google Scholar 

  • Chin JC, Walls RS (1981) Ratbrain antigens and hypersensitivity in HD. IRCS Med Sci 9:902

    Google Scholar 

  • Comings DE (1979) A search for the mutant protein in Huntington's disease and schizophrenia. Adv Neurol 23:335–350

    Google Scholar 

  • Comings DE (1981) Editorial: The ups and downs of Huntington's disease research. Am J Hum Genet 33:314–317

    Google Scholar 

  • Comings DE, Pekkala A, Shuh JR, Kuo PC, Chan SI (1981a) Huntington's disease and Tourette syndrome. I. Electron spin resonance of red blood cells ghosts. Am J Hum Genet 33:166–174

    Google Scholar 

  • Comings DE, Goetz I, Holden J, Holtz J (1981b) Huntington's disease and Tourette syndrome. II. Uptake of glutamine acid and other amino acids by fibroblasts. Am J Hum Genet 33: 175–186

    Google Scholar 

  • Cook-Deegan RM, Austin JH (1983) Letter to the Editor: Implications of normal lymphocyte DNA content in familial Alzheimer disease. Am J Med Genet 15:511–513

    Google Scholar 

  • Cooper JT, Goldstein S (1977) Comparative studies on human skin fibroblasts: Life span and lipid metabolism in medium containing foetal bovine or human serum. In Vitro 13:473–476

    Google Scholar 

  • Dekaban A (1965) Persisting clone of cells with an abnormal chromosome in a woman previously irradiated. J Nucl Med 6:740–746

    Google Scholar 

  • Delhanty JDA, Parrington JM, Casey G, Attwood J, West L, Kirk D, Corney G (1981) Growth, DNA repair, sister chromatid exchange and chromosome studies in fibroblasts from Huntington's disease patients. Ann Hum Genet 45:181–198

    Google Scholar 

  • Derks JPA, Pearson PL (1982) The unsuitability of the leucocyte adherence inhibition assay for diagnosis of Huntington's chorea. Clin Immunol Immunopathol 25:354–361

    Google Scholar 

  • Derks JPA, Pearson PL (1983) Some immunochemical aspects of Huntington's disease. Clin Immunol Immunopathol 28:341–349

    Google Scholar 

  • Diez-Ewald M, Pearson PL (1983) Platelet aggregation, 5-hydroxytryptamine uptake and release in Huntington's chorea. Prog Neuropsychopharmacol 4:277–283

    Google Scholar 

  • Divac I (1977) Possible pathogenesis of Huntington's chorea and a new approach to treatment. Acta Neurol Scand 56:357–369

    Google Scholar 

  • Dixon WJ (1953) Processing data for outliers. Biometrics 9:74–89

    Google Scholar 

  • Dom R, Malfroid M, Baro F (1976) Neuropathology of Huntington's disease. Studies on the ventro-basal complex of the thalamus. Neurology 26:64–68

    Google Scholar 

  • Drummond RJ, Phillips AT (1974) L-Glutamic and decarboxylase in non-neural tissues of the mouse. J Neurochem 23:1207–1213

    Google Scholar 

  • Drummond RJ, Phillips AT (1977) Intracellular amino acid content of neuronal, glial and non-neural cell cultures: the relationship to glutamic acid compartmentation. J Neurochem 29:101–108

    Google Scholar 

  • Dubbelman TM, de Bruijne AW, van Steveninck J, Bruyn GW (1981) Studies on erythrocyte membranes of patients with Huntington's disease. J Neurol Neurosurg Psychiatry 44:570–573

    Google Scholar 

  • Dufrain RJ, Batson J, Colyer SP, Joiner EE, Littlefield GL, Hubner KF (1982) Cytogenetic analysis of mutagen stressed lymphocytes from individuals with Huntington's chorea. Mamm Chrom Newsl 23:16

    Google Scholar 

  • Ehsanullah RSB, Turner P (1981) Platelet monoamine uptake in relatives of patients with Huntington's chorea. Postgrad Med J 57:479–481

    Google Scholar 

  • Enna SJ, Stern LZ, Waster GJ, Yamamura HI (1977) Cerebrospinal fluid gamma-aminobutyric acid variations in neurological disorders. Arch Neurol 34:684–685

    Google Scholar 

  • Evans HJ, Vijyalaxmi, Newton MS (1982) The response of cells from patients with Huntington's chorea to mutagen induced chromosome damage. Ann Hum Genet 46:177–185

    Google Scholar 

  • Falk DJ, Kistler DJ, Klawans HL (1978) HD antigens: Data debated. Neurology (NY) 28:1070–1071

    Google Scholar 

  • Foerster K, Freudenberg J (1980) HLA antigen frequencies in patients with Huntington's chorea and their relatives. J Neurol 223:119–125

    Google Scholar 

  • Folkman J, Moscona A (1978) Role of cell shape in growth control. Nature 273:345–349

    Google Scholar 

  • Francke U, Oliver N (1978) Quantitative analysis of high resolution trypsin-Giemsa bands on human metaphase chromosomes. Hum Genet 45:137–165

    Google Scholar 

  • Fuchs P, Parola A, Robbins PW, Blout ER (1975) Fluorescence polarisation and viscosities of membrane lipids of 3T3 cells. Proc Natl Acad Sci USA 72:3351–3354

    Google Scholar 

  • Fung LWM, Ostrowksi MS (1982) Spin label electron paragnetic resonance (EPR) studies of Huntington's disease erythrocyte membranes. Am J Hum Genet 34:469–480

    Google Scholar 

  • Gaffney BJ, Drachman DB, Lin DC, Tennekoon G (1980) Spin label studies of erythrocytes in myotonic dystrophy: no increase in membrane fluidity. Neurology (NY) 30:272–276

    Google Scholar 

  • Gail MH, Boone CHW (1972) Procaine inhibition of fibroblast motility and proliferation. Exp Cell Res 73:152

    Google Scholar 

  • Geary LE, Lazarides E, Goetz I, Roberts E (1978) Actin filaments in human skin fibroblasts are similar in normal persons and patients with Huntington's disease. Ann Neurol 4:554–556

    Google Scholar 

  • Gilchrest BA (1980) Prior chronic sun exposure decreases the life-span of human skin fibroblasts in vitro. J Gerontol 35:537–541

    Google Scholar 

  • Giovanella BC, Lohman WA, Heidelberger C (1970) Effects of elevated temperatures and drugs on the viability of L1210 leukaemic cells. Cancer Res 30:1623–1631

    Google Scholar 

  • Glaser BS, Vogel WH, Oleweiler DB, Hare TA (1975) GABA levels in cerebrospinal fluid of patients with Huntington's chorea. Biochem Med 12:380–385

    Google Scholar 

  • Goetz I, Roberts E, Comings DE (1975) Fibroblasts in Huntington's disease. N Engl J Med 293:1225–1227

    Google Scholar 

  • Goetz I, Roberts E, Warren J, Commings DE (1979a) Growth of Huntington's disease fibroblasts during their in vitro life span. Adv Neurol 23:351–359

    Google Scholar 

  • Goetz I, Moklebust R, Warren CJ (1979b) Effects of some antibiotics on the growth of human diploid skin fibroblasts in cell culture. In Vitro 15:114

    Google Scholar 

  • Goetz I, Roberts E, Warren J (1981) Skin fibroblasts in Huntington's disease. Am J Hum Genet 33:189–196

    Google Scholar 

  • Goldman D, Merril CR, Polinsky RJ, Ebert MH (1982) Lymphocyte proteins in Huntington's disease: Quantitative analysis by use of two-dimensional electrophoresis and computerized densitometry. Clin Chem 4:1021–1025

    Google Scholar 

  • Gray PN, Dana SL (1977) Analysis of Huntington's chorea. Induced alterations in cell culture. Excerpta Med Int Congress Series 428:93

    Google Scholar 

  • Gray PN, Dana S (1979) GABA synthesis by cultured fibroblasts from persons with Huntington's disease. J Neurochem 33: 985–992

    Google Scholar 

  • Gray PN, May PC, Mundy L, Elkins J (1980) L-Glutamate toxicity in Huntington's disease fibroblasts. Biochem Biophys Res Commun 95:707–714

    Google Scholar 

  • Groshong R, Gibson DA, Baldessarini RJ (1977) Monoamine oxidase activity in cultured human skin fibroblasts. Clin Chim Acta 80:113–120

    Google Scholar 

  • Gusella JF, Tamzo R, Anderson MA, Ottina K, Wallace M, Conneally PM (1983a) Linkage analysis of Huntington's disease using restriction fragment length polymorphisms. Abstract Int Human Gene Mapping Workshop VII UCLA. August 21–26

  • Gusella JF, Wexler NS, Coneally PM, Naylor SL, Anderson MA, Tanzi RE, Watkins PC, Ottinak K, Wallace MR, Sakaguchi AY, Young AB, Shoulson I, Bonilla E, Martin JB (1983b) A polymorphic DNA marker genetically linked to Huntington's disease. Nature 306:234–238

    Google Scholar 

  • Hamel E, Goetz I, Roberts E (1981) Glutamine acid decarboxylase and gamma-aminobutyric acid in Huntington's disease fibroblasts and other cultured cells, determined by a 3+H muscimol radioreceptor assay. J Neurochem 37:1032–1038

    Google Scholar 

  • Hardiwidjaja SI, Morgan A, Ellison GW, Myers LW, Pierce WG, Barkley DS (1981) Huntington's disease and leucocyte adherence inhibition (LAI). Clin Exp Immunol 45:583–589

    Google Scholar 

  • Harper RA, Grove G (1979) Human skin fibroblasts derived from papillary and reticular dermis: Differences in growth potential in vitro. Science 204:526–527

    Google Scholar 

  • Harris M (1966) Criteria of variability in heat treated cells. Exp Cell Res 44:658–661

    Google Scholar 

  • Haslam RJ, Goldstein S (1974) Adenosine 3′:5′-cyclic monophosphate in young and senescent human fibroblasts during growth and stationary phase in vitro. Biochem J 144:253

    Google Scholar 

  • Hassell J, Engelhardt DL (1977) Factors regulating the multiplication of animal cells in culture. Exp Cell Res 107:159–167

    Google Scholar 

  • Hawkins M, Breakfield XO (1978) Monoamine oxidase A and B in cultured cells. J Neurochem 30:1391–1397

    Google Scholar 

  • Hayden MR (1981) Huntington's chorea. Springer, Berlin Heidelberg New York

    Google Scholar 

  • Hayflick L (1965) The limited in vitro lifetime of human diploid cell strains. Exp Cell Res 37:614–636

    Google Scholar 

  • Holley RW (1975) Review article: Control of growth of mammalian cells in cell culture. Nature 258:487–490

    Google Scholar 

  • Holmes DE, Piette LH (1970) Effects of phenothiazine derivatives on biological membranes: drug induced changes in electron spin resonance spectra from skin labelled crythrocyte ghost membranes. J Pharmacol Exp Ther 173:78–84

    Google Scholar 

  • Hooghwinkel GJM, Borri PF, Bruijn GW (1966) Biochemical studies in Huntington's chorea. Acta Neurol Scand 42:213–220

    Google Scholar 

  • Hung WY, Tourian A (1981) Differential labelling of UDP-N-acetyl-glucosamine in Huntington's chorea fibroblasts. Biochem J 196:495–498

    Google Scholar 

  • Hung WY, Mold DE, Tourian A (1980) Huntington's chorea fibroblasts. Biochem J 190:711–719

    Google Scholar 

  • Huntington G (1972) On chorea. Med Surg Rep 26:317–321

    Google Scholar 

  • Husby G, Li L, Davis LE, Wedege E, Kokmen E, Williams RC, Jr (1977) Antibodies to human candate nucleus neurones in HD. J Clin Invest 59:922–932

    Google Scholar 

  • Husby G, Forre O, Williams RC (1979) IgG subclass, variable H chain subgroup and light chain composition of antineuronal antibody in Huntington's disease and Sydenham's chorea. Clin Immunol Immunopathol 14:361–367

    Google Scholar 

  • Inbar M, Goldman R, Inbar L, Bursuker I, Goldman B, Akstein E, Segal P, Ipp E, Ben-Bassat I (1977) Fluidity difference of membrane lipids in human normal and leukaemic lymphocytes as controlled by serum components. Cancer Res 37:3037–3041

    Google Scholar 

  • Kimelberg HK (1981) Active accumulation and exchange transport of chloride in astroglial cells in culture. Biochim Biophys Acta 646:179–184

    Google Scholar 

  • Kirk D, Parrington JM, Corney G, Bolt JMW (1977) Anomalous cellular proliferation in vitro associated with Huntington's disease. Hum Genet 36:143–154

    Google Scholar 

  • Klawans HL, Paulson GW, Ringel SP, Barbeau A (1972) Use of L-dopa in the detection of presymptomatic Huntington's chroea. N Engl J Med 286:1332–1334

    Google Scholar 

  • Knowles PF, Marsh D, Rattle HWE (1976) Magnetic resonance of biomolecules. An introduction to the theory and practice of NMR and ESR in biological systems. John Wiley, London

    Google Scholar 

  • Kraus LJ, Williams RM (1977) Studies of HD lymphocytes. 1. Fluorescence polarisation measurements as indicators of membrane microviscosity in HD, at risk and normal lymphocytes. Poster. 2nd Int Huntington's disease Symposium San Diego, November 16–18, 1978

  • Lakowicz JR, Sheppard JR (1981) Fluorescence spectroscopic studies of Huntington's fibroblast membranes. Am J Hum Genet 35:155–165

    Google Scholar 

  • de Laat SW, Saag PT vd, Shinitzky M (1977) Microviscosity modulation during the cell cycle of neuroblastoma cells. Proc Natl Acad Sci USA 74:4458–4461

    Google Scholar 

  • Ladbrooke BD, Chapman D (1969) Thermal analysis of lipids, protein and biological membranes. A review and summary of some recent studies. Chem Phys Lipids 3:304–367

    Google Scholar 

  • Lee AG, Birdsall NJM, Metcalfe JC (1974) Nuclear magnetic relaxation and the biological membrane. Methods in membrane biology. Plenum Press, New York, pp 1–156

    Google Scholar 

  • Ledbetter DH, Mascarello JT, Riccardi VM, Harper VD, Airhart SD, Strobel RJ (1982) Chromosome 15 abnormalities and the Prader-Willi syndrome: A follow-up report of 40 cases. Am J Hum Genet 34:278–285

    Google Scholar 

  • Leonardi A, De Martini IS, Perdelli F, Mancardi GL, Salvarini, Bugiani I (1978) Skin fibroblasts in Huntington's disease. N Engl J Med 298:632

    Google Scholar 

  • Lindblad A, Lambert B (1981) Relation between sister chromatid exchange, cell proliferation and proportion of B and T cells in human lymphocyte cultures. Hum Genet 57:31–34

    Google Scholar 

  • Litwin J (1972) The effect of light on the ageing of human diploid fibroblasts. Exp Gerontol 7:381–386

    Google Scholar 

  • Luzatti V, Tardieu A (1974) X-ray scattering. Annu Rev Phys Chem 25:79–94

    Google Scholar 

  • Mabrey S, Sturtevant JM (1978) High sensitivity differential scanning calorimetry in the study of biomembranes and related model systems. Methods in membrane biology. Plenum Press, New York

    Google Scholar 

  • McConnell HM, McFarland BG (1970) Physics and chemistry of spin labels. Q Rev Biophys 3:91–136

    Google Scholar 

  • McCormack MK, Ullman J, Lazzarini IA (1982) Altered red cell osmotic fragility in Huntington disease (HD). Am J Med Genet 11:53–59

    Google Scholar 

  • McCormick PJ, Keys BJ, Pucci C, Millis AJT (1979) Human fibroblast-conditioned medium contains a 100K dalton glucoseregulated cell surface protein. Cell 18:173–182

    Google Scholar 

  • McGeer EG, McGeer PL (1978) Some factors influencing the nerve toxicity of intra-stritial injections of kainic acid. Neurochem Res 3:501–517

    Google Scholar 

  • McGovern D, Webb T (1982) Sensitivity of ionising radiation of lymphocytes from Huntington's chorea patients compared to controls. J Med Genet 19:168–174

    Google Scholar 

  • McLean DR, Nihei T (1980) Biochemical markers for Huntington's chorea. Can J Neurol Sci 7:281–283

    Google Scholar 

  • Madsen H, Staub Nielsen L, Sørensen SA (1982) An association study of Huntington's disease and HLA. J Med Genet 19:452–454

    Google Scholar 

  • Mangano RM, Schwarcz R (1981) Platelet glutamate and aspartate in Huntington's disease. J Neurochem 37:1072–1074

    Google Scholar 

  • Mann J, Chiu E (1978) Platelet monoamine oxidase activity in Huntington's chorea. J Neurol Neurosurg Psychiatry 41:809–812

    Google Scholar 

  • Mantsch HH, Saito H, Smith ICP (1977) Deuterium magnetic resonance applications in chemistry, physics, and biology. Prog Nucl Magn Reson Spectrosc 11:211–272

    Google Scholar 

  • Manyam NVB, Katz L, Hare TA, Gerber JC III, Grossman MH (1980) Levels of gamma-aminobutyric acid in cerebrospinal fluid in various neurological disorders. Arch Neurol 37:352–354

    Google Scholar 

  • Markesbury WR, Butterfield DA (1977) Scanning electron microscopy studies of erythrocytes in Huntington's disease. Biochem Biophys Res Commun 78:560–564

    Google Scholar 

  • Martin GM, Sprague CA, Epstein CJ (1970) Replicative life-span of cultivated human cells. Effects of donor's age, tissue and genotype. Lab Invest 23:86–92

    Google Scholar 

  • Mattei MG, Ayme S, Mattei JF, Aurran Y, Giraud F (1979) Distribution of spontaneous chromosome breaks in man. Cytogenet Cell Genet 23:95–102

    Google Scholar 

  • May PC, Gray PN (1980) Altered glutamate/glutamine metabolism in HD fibroblasts. J Cell Biol 87: 75a

  • Mellman WJ (1971) A biochemical genetic view of human cell culture. Adv Hum Genet 2:259–306

    Google Scholar 

  • Menkes JH, Hanoch A (1977) Huntingtons disease-growth of fibroblast cultures in lipid deficient medium: a preliminary report. Ann Neurol 1:423–425

    Google Scholar 

  • Menkes JH, Stein N (1973) Fibroblast cultures in Huntington's disease. N Engl J Med 288:856–857

    Google Scholar 

  • Miller CA, Rasheed S (1981) Viral susceptibility of skin fibroblasts from patients with Huntington's disease. Am J Hum Genet 33:197–202

    Google Scholar 

  • Milunsky A, Littlefield JW (1972) The prenatal diagnosis of inborn errors of metabolism. Annu Rev Med 23:57–76

    Google Scholar 

  • Milunsky A, Littlefield JW, Kanfer JN (1970) Prenatal genetic diagnosis. N Engl J Med 283:1381–1381; 1441–1447; 1498–1504

    Google Scholar 

  • Moorhead PS, Heyman A (1983) Chromosome studies of patients with Alzheimer disease. Am J Med Genet 14:545–556

    Google Scholar 

  • Morell RM (1979) Antibody-dependant cytotoxicity in Huntington's disease. Adv Neurol 23:443–447

    Google Scholar 

  • Moshell AF, Barrett SF, Tarone RE, Robbins JH (1980) Radiosensitivity in Huntington's disease: Implications for pathogenesis and presymptomatic diagnosis. Lancet i:9–11

    Google Scholar 

  • Murumatsu Y, Kaiya H, Imai H, Nozaki M, Fujimura H, Namba M (1982) Abnormal platelet aggregation response in Huntington's disease. Arch Psychiatr Nervenkr 232:191–200

    Google Scholar 

  • Myrianthopoulos NC (1966) Huntington's chorea. J Med Genet 3:298–314

    Google Scholar 

  • Myrianthopoulos NC (1967) Genetics and epidemiology of Huntington's disease-Huntington's chorea. An appraisal of the genetic problem. In: Barbeau A, Brunette JR (eds) Progress in Neurogenetics Proc 2nd International Congress of Neurogenetics, World Fed Neurol Montreal. Excerpta Medica, Amsterdam, 1968, pp 509–516

    Google Scholar 

  • Nielsen J (1970) Chromosomes in senile, presenile and arteriosclerotic dementia. J Gerontol 25:312–315

    Google Scholar 

  • Nielsen J, Jensen L, Lindhardt H, Stottrup L, Sondergaard A (1968) Chromosomes in senile dementia. Br J Psychiatry 114:303–309

    Google Scholar 

  • Nordensen I, Adolfsson R, Beckman G, Bucht G, Winblad B (1980) Chromosomal abnormality in dementia of Alzheimer type. Lancet i:481–482

    Google Scholar 

  • Norohna ABC, Roos RP, Antel JP, Arnason BGW (1979) Concanavalin A induced lymphocyte capping in Huntington's disease. Adv Neurol 23:419–428

    Google Scholar 

  • Ockey CH (1980) Differences between spontaneous and induced sister chromatid exchanges with fixation time and their chromosome localisation. Cytogenet Cell Genet 26:223–235

    Google Scholar 

  • Olney JW, Sharpe LG, Feigin RD (1972) Glutamate-induced brain damage in infant primates. J Neuropathol Exp Neurol 31:464–488

    Google Scholar 

  • Omachi A, Sarpel G, Podolski JL, Barr AN, Lazowski E, Danon MJ (1982) Lysophosphatidylcholine induced lysis of erythrocytes in Duchenne and myotonic dystrophies and in Huntington's disease. J Neurol Sci 56:249–258

    Google Scholar 

  • Omenn GS, Smith L (1978) Platelet uptake of serotonin and dopamine in Huntington's disease. Neurology 28:300–303

    Google Scholar 

  • Parola AH, Robbins PW, Blout ER (1979) Membrane dynamic alterations associated with viral transformation and reversion. Exp Cell Res 118:205–214

    Google Scholar 

  • Paterson MC, Anderson AK, Smith BP, Smith PJ (1979) Enhanced radiosensitivity of cultured fibroblasts from ataxia telangiectasia heterozygotes manifested by defective colony forming ability and reduced DNA repair replication after hypoxic gamma-irradiation. Cancer Res 39:3725–3734

    Google Scholar 

  • Perry TL (1981) Post-mortem findings do not suggest a brain glutamine deficiency in Huntington's disease. Lancet i:1261–1262

    Google Scholar 

  • Perry TL, Hansen S, Kloster M (1973) Huntington's chorea: Deficiency of gamma aminobutyric acid in brain. N J Med 288:337–342

    Google Scholar 

  • Perry TL, Hansen S, Wall RA, Gauthier SG (1982) Human CSF GABA concentrations: Revised downward for controls but not decreased in Huntington's chorea. J Neurochem 38:766–773

    Google Scholar 

  • Pettegrew JW, Nichols JS, Stewart RM (1979a) Studies of the fluorescence of fibroblasts from Huntington's disease: Evidence of a membrane abnormality. N Engl J Med 300:678

    Google Scholar 

  • Pettegrew JW, Nichols JS, Stewart RM (1979b) Fluorescence spectroscopy on Huntington's fibroblasts. J Neurochem 33:905–911

    Google Scholar 

  • Pettegrew JW, Glonek T, Stewart RM (1979c) Phosphorous-31 nuclear magnetic resonance (31P-NMR) studies on blood in Huntington's disease. Ann Neurol 6:164

    Google Scholar 

  • Pettegrew JW, Nichols JS, Stewart RM (1979d) Fluorescence studies of fibroblasts, lymphocytes and erythrocytes in Huntington's disease. Ann Neurol 6:149

    Google Scholar 

  • Pettegrew JW, Nichols JS, Stewart RM (1980) Membrane studies in Huntington's disease: steady state of fluorescence of intact erythrocytes. Ann Neurol 8:381–386

    Google Scholar 

  • Pettegrew JW, Nichols JS, Stewart RM (1981a) Membrane studies in Huntington's disease: steady state and time dependant fluorescence spectroscopy of intact lymphocytes. J Neurochem 36:1966–1976

    Google Scholar 

  • Pettegrew JW, Minshew NJ, Stewart RM (1981b) Dynamic membrane studies in individuals at risk for Huntington's disease. Neurology (NY) 31:151

    Google Scholar 

  • Pettegrew JW, Minshew NJ, Nichols JS (1982a) Fluorescence probes specific for the plasma membrane of intact human erythrocytes and lymphocytes. Life Sci 30:1101–1105

    Google Scholar 

  • Pettegrew JW, Minshew N, Glonek T, Kopp S, Cohen M (1982b) Phosphorous31 nuclear magnetic resonance analysis of Huntington and control brain. Ann Neurol 12:91

    Google Scholar 

  • Pettegrew JW, Minshew NJ, Stewart RM (1983) Dynamic membrane studies in individuals at risk for Huntington's disease. Life Sci 32:1207–1212

    Google Scholar 

  • Phillips HJ (1973) Dye exclusion tests for cell viability. Academic Press, New York, p 406

    Google Scholar 

  • Piez KA, Eagle H (1958) The tree amino acid pool of cultured human cells. J Biol Chem 231:533–545

    Google Scholar 

  • Prashad R, Sanford KK (1977) Intermittant exposure to fluorescent light extends lifespan of human diploid fibroblasts in culture. Nature 268:736

    Google Scholar 

  • Procter SH, Garson OM, Chiu E (1978) Poster: G-banding of chromosomes in Huntington's disease. Second Int Huntington's disease Symp San Diego California. November 16–18, 1978

  • Pronk JC, Kalter PGE (1974) Erythrocyte-membrane proteins in Spielmeyer-Vogt's disease and Huntington's chorea. Humangenetik 24:145–149

    Google Scholar 

  • Propert DN (1980) Presymptomatic detection of Huntington's disease. Med J Aust 1:609–612

    Google Scholar 

  • Radda GK, Vanderkooi J (1972) Can fluorescent probes tell us anything about membranes. Biochim Biophys Acta 265:509–549

    Google Scholar 

  • Reed CS (1967) General view of Huntington's disease research. In: Barbeau A, Brunette JR (eds) Progress in neurogenetics, vol 1. Proc 2nd Int Congress Neurogenetics World Fed Neurol Montreal. Excerpta Medica, Amsterdam, pp 682–685

    Google Scholar 

  • Richelson E (1975) Tissue culture of the nervous system: Applications in neurochemistry and psychopharmacology. In: Iversen LL, Iversen SD, Snyder SH (eds) Handbook of psychopharmacology, vol 1. Biochemical principles and techniques in neuropharmacology. Plenum Press, New York London, pp 101–135

    Google Scholar 

  • Roper PA, Drewinko B (1979) Cell survival following treatment with antitumor drugs. Cancer Res 39:1428–1430

    Google Scholar 

  • Roth JA, Breakfield XO, Castiglione CM (1976) Monoamine oxidase and catechol-O-methyl-transferase activities in cultured human skin fibroblasts. Life Sci 19:1705–1710

    Google Scholar 

  • Sanberg PR, Johnston GA (1981) Glutamate and Huntington;s disease. Med J Aust 2:460–465

    Google Scholar 

  • Schmidt A, Passarge E, Seemanova E, Macek M (1982) Prenatal detection of a foetus hemizygous for the fragile X chromosome. Hum Genet 62:285–286

    Google Scholar 

  • Schneider EL (1978) The effect of serum batch on the in vitro lifespan of cell cultures derived from old and young human donors. Exp Cell Res 115:47–52

    Google Scholar 

  • Schneider EL, Mitsui Y (1976) The relationship between in vitro cellular ageing and in vivo human age. Proc Natl Acad Sci USA 73:3584

    Google Scholar 

  • Schneider EL, Mitsui Y, Au KS, Shorr SS (1977) Tissue-specific differences in cultured human diploid fibroblasts. Exp Cell Res 108:1

    Google Scholar 

  • Schneider G, Depen H, Wedel HR von (1981) Monoamine oxidase activity in brain regions and organs of patients with Huntington's disease. Arch Psych Nervenkr 230:5–15

    Google Scholar 

  • Schoenborn BP (1976) Neutron scattering for the analysis of membranes. Biochim Biophys Acta 457:41–55

    Google Scholar 

  • Schrek R (1979) Utility and efficiency of viable cell counts. Cancer Res 39:4288

    Google Scholar 

  • Scudiero DA, Meyer SA, Caltterbuck BE, Tarone RE, Robbins JH (1981) Hypersensitivity to N-methyl-N'-nitro-N-nitrosoguanidine in fibroblasts from patients with Huntington's disease, familial dysautonomia and other primary neuronal degenerations. Proc Natl Acad Sci USA 78:6451–6455

    Google Scholar 

  • Seabright M (1971) Rapid banding technique for human chromosomes. Lancet ii:971–972

    Google Scholar 

  • Seegmiller JE, Rosenbloem FM, Kelley WN (1967) Enzyme defect associated with sex-linked human neurological disorder and excessive purine synthesis. Science 155:1682–1684

    Google Scholar 

  • Sené C, Genest D, Obrénovitch A, Wahl P, Monsigny M (1978) Pulse fluorimetry of 1,6 diphenylhexatriene-incorporated in membranes of mouse leukemic L1210 cells. FEBS Lett 88:181–186

    Google Scholar 

  • Shinitzky M, Inbar M (1976) Microviscosity parameters and protein mobility in biological membranes. Biochim Biophys Acta 433:133–149

    Google Scholar 

  • Singer SJ (1974) The molecular organisation of membranes. Annu Rev Biochem 43:805–833

    Google Scholar 

  • Smith JR, Hayflick L (1974) Variation in the life span of clones derived from human diploid cell strains. J Cell Biol 62:48–53

    Google Scholar 

  • Smith JR, Whitney RG (1980) Intraclonal variation in proliferative potential of human diploid fibroblasts: Stochastic mechanisms for cellular ageing. Science 207:82–84

    Google Scholar 

  • Smith JR, Pereira-Smith OM, Schneider EL (1978) Colony size distributions as a measure of in vivo and in vitro aging. Proc Natl Acad Sci USA 75:1353

    Google Scholar 

  • Smith A, Broe GA, Williamson M (1983) Chromosome aneuploidy in Alzheimer's disease. Clin Genet 24:54–57

    Google Scholar 

  • Stahl SM (1977) The human platelet. A diagnostic and research tool for the study of biogenic amines in psychiatric and neurologic disorders. Arch Gen Psychiatry 34:509–516

    Google Scholar 

  • Sumbilla C, Lackowickz JR (1982) Fluorescence studies of red blood cell membranes from individuals with Huntington's disease. J Neurochem 38:1699–1708

    Google Scholar 

  • Sutherland GR (1982) Heritable fragile sites on human chromosomes. VIII. Preliminary population cytogenetic data on the folic acid-sensitive fragile sites. Am J Hum Genet 34:452–458

    Google Scholar 

  • Taylor AM, Harden DG, Arlett CF, Harcourt SA, Lehmann AR, Stevens S, Bridges BA (1975) Ataxia telangiectasia: A human mutation with abnormal radiation sensitivity. Nature 258:427–429

    Google Scholar 

  • Tourian AR, Hung WY (1977a) Membrane abnormalities of Huntington's chorea fibroblasts in culture. Biochem Biophys Res Commun 78:1296–1303

    Google Scholar 

  • Tourian A, Hung WY (1977b) Glucosamine dependence of Huntington's chorea fibroblasts in culture. Biochem Biophys Res Commun 76:345–353

    Google Scholar 

  • Tourian A, Hung WY (1979) Huntington's chorea fibroblasts: nutritional and protein glycosylation studies. Adv Neurol 23:371–386

    Google Scholar 

  • Tourian A, Hung WY (1980) Huntington's disease: Membrane abnormalities and protein glycosylation. Neurochemistry and clinical neurology. Alan R. Liss, New York, pp 195–204

    Google Scholar 

  • Tsukeda H, Mizuno S, Nitta K (1978) Cell survival following treatment with anti-tumour drugs. Cancer Res 39:1428–1430

    Google Scholar 

  • Tukiainen E, Wikstrom J, Kilpelainen H (1981b) Uptake of 5-hydroxytryptamine by blood platelets in Huntington's chorea and Alzheimer type of presenile dementia. Med Biol 59:116–120

    Google Scholar 

  • Ward BE, Cook RH, Robinson A, Austin JH (1979) Increased aneupoloidy in Alzheimer disease. Am J Med Genet 3:137–144

    Google Scholar 

  • Wededge E (1979) Properties of a brain-specific protein fraction which absorbs anti-neuronal antibodies in sera from patients with Huntington's disease. Cell Mol Biol 25:207–213

    Google Scholar 

  • Weed RI, Bessis M (1973) Discocyte stomatocyte equilibrium of normal and pathologic red cells. Blood 41:471–475

    Google Scholar 

  • Weichselbaum RR, Nove J, Little JB (1980) X-ray sensitivity of fifty-three human diploid fibroblast cell strains from patients with characterised genetic disorders. Cancer Res 40:920–925

    Google Scholar 

  • Wherret JR, Brown BL (1969) Erythrocyte glycolipids in Huntington's chorea. Neurology 19:489–493

    Google Scholar 

  • White BJ, Crandall C, Goudsmit J, Morrow CH, Alling DW, Gajdusek DC, Tjio JH (1981) Cytogenetic studies of familial and sporadic Alzheimer disease. Am J Med Genet 10:77–89

    Google Scholar 

  • Williams RC, Lewis M, Montano J, Davis LE, Husby G (1978) Immunological studies related to brain antigens in Huntington's disease. Ann Neurol 3:185–186

    Google Scholar 

  • Yataganas X, Strife A, Perez A, Clarkson BD (1974) Microfluorometric evaluation of cell kill kinetics with 1-beta-D-arabino-furanosyl cytosine. Cancer Res 34:2795–2806

    Google Scholar 

  • Yunis JJ (1981) Mid-prophase human chromosomes. The attainment of 2000 bands. Hum Genet 56:293–298

    Google Scholar 

  • Zanella A, Izzo C, Mariani MG, Colotti MT, Silani V, Pellagata G, Scarlato G (1980) Metabolic impairment and membrane abnormality in red cells from Huntington's disease. J Neurol Sci 47:93–103

    Google Scholar 

  • Zhivkov S, Kirov K, Abadjiev M (1965) Chromosome abnormalities in a patient suffering from Huntington's chorea. CR Acad Bulg Sci 18:389

    Google Scholar 

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Beverstock, G.C. The current state of research with peripheral tissues in Huntington disease. Hum Genet 66, 115–131 (1984). https://doi.org/10.1007/BF00286586

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