On an autosomal dominant form of retinal-cerebellar degeneration: an autopsy study of five patients in one family (original) (raw)
References
Auburger G, Diaz GO, Capote RF, Sanchez SG, Perez MP, del Cueto ME, Meneses MG, Farrall M, Williamson R, Chamberlain S, Baute LH (1990) Autosomal dominant ataxia: genetic evidence for locus heterogeneity from a Cuban Founder-effect population. Am J Hum Genet 46: 1163–1177 Google Scholar
Bergstedt M, Johansson S, Müller R (1962) Hereditary spastic ataxia with central retinal degeneration and vestibular impairment. A clinical report on a family. Neurology 12: 124–132 Google Scholar
Björk A, Lindblom U, Wadensten L (1956) Retinal degeneration in hereditary ataxia. J Neurol Neurosurg Psychiatry 19: 186–193 Google Scholar
Chamberlain S, Shaw J, Rowland A, Wallis J, South S, Nakamura Y, von Gabain A, Farrall M, Williamson R (1988) Mapping of mutation causing Friedreich's ataxia to human chromosome 9. Nature 334: 248–250 Google Scholar
Duinkerke-Eerola KU, Cruysberg JRM, Deutman AF (1980) Atrophic maculopathy associated with hereditary ataxia. Am J Ophthalmol 90: 597–603 Google Scholar
Foster JB, Ingram TTS (1962) Familial cerebro-macular degeneration and ataxia. J Neurol Neurosurg Psychiatry 25: 63–68 Google Scholar
Fowler HL (1984) Machado-Joseph-Azorean disease. A ten-year study. Arch Neurol 41: 921–925 Google Scholar
Gatti R.A, Berkel I, Boder E, Braedt G, Charmley P, Concannon P, Ersoy F, Foroud T, Jaspers NG, Lange K, Lathrop GM, Leppert M, Nakamura Y, O'Connell P, Paterson M, Salser W, Sanal O, Silver J, Sparkes RS, Susi E, Weeks DE, Wei S, White R, Yoder F (1988) Localization of an ataxia-telangiectasia gene to chromosome 11q22-23. Nature 336: 577–580 Google Scholar
Gispert S, Twells R, Orozco G, Brice A, Weber J, Heredero L, Scheufler K, Riley B, Allotey R, Nothers C, Hillermann R, Lunkes A, Khati C, Stevanin G, Hernandez A, Magarino C, Klockgether T, Durr A, Chneiweiss H, Enczmann J, Farrall M, Beckmann J, Mullan M, Wernet P, Agid Y, Freund H-J, Williamson R, Auburger G, Chamberlain S (1993) Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1. Nature Genet 4: 295–299 Google Scholar
Goto I, Tobimatsu S, Ohta M, Hosokawa S, Shibasaki H, Kuroiwa Y (1982) Dentatorubro-pallidoluysian degeneration: clinical, neuro-ophthalmologic, biochemical, and pathologic studies on autosomal dominant form. Neurology 32: 1395–1399 Google Scholar
Halsey JH Jr, Scott TR, Farmer TW (1967) Adult hereditary cerebello-retinal degeneration. Neurology 17: 87–90 Google Scholar
Hamilton SR, Chatrian G-E, Mills RP, Kalina RE, Bird TD (1990) Cone dysfunction in a subgroup of patients with autosomal dominant cerebellar ataxia. Arch Ophthalmol 108: 551–556 Google Scholar
Harding AE (1982) The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of “the Drew family of Walworth”. Brain 105: 1–28 Google Scholar
Harding AE (1984) The hereditary ataxias and related disorders. Clinical Neurology and Neurosurgery Monographs. Churchill Livingstone, Edinburgh Google Scholar
Iizuka R, Hirayama K, Maehara K (1984) Dentato-rubropallido-luysian atrophy: a clinico-pathological study. J Neurol Neurosurg Psychiatry 47: 1288–1298 Google Scholar
Lazzarini A, Zimmerman TR, Johnson WG, Duvoisin RC (1992) A 17th-century founder gives rise to a large North American pedigree of autosomal dominant spinocerebellar ataxia not linked to the SCA1 locus on chromosome 6. Neurology 42: 2118–2124 Google Scholar
Martin J-J (1970) Contribution à l'étude de l'anatomie du thalamus et de sa pathologie au cours des maladies dégénératives dites abiotrophiques. Thèse d' agrégation de l' Enseignement supérieur en Sciences Neurologiques. Acta Neurol Belg 70: 5–212 Google Scholar
Mizutani T, Oda M, Abe H, Fukuda S, Oikawa H, Kosaka K (1983) Hereditary multisystemic degeneration with unusual combination of cerebellipetal, dentato-rubral, and nigro-subthalamo-pallidal degenerations. Clin Neuropathol 2: 147–155 Google Scholar
Morton NE, Lalouel J-M, Jackson JF, Currier RD, Yee S (1980) Linkage studies in spinocerebellar ataxia (SCA). Am J Med Genet 6: 251–257 Google Scholar
Neetens A, Martin J-J, Libert J, Van Den Ende P (1990) Autosomal dominant cone-dystrophy-cerebellar atrophy (ADCoCA) (modified ADCA Harding II). Neurophthalmology 10: 261–275 Google Scholar
Nyssen R, van Bogaert L (1934) La dégénérescence systématisée optico-cochléo-dentelée. Rev Neurol (Paris) 2: 321–345 Google Scholar
Orr H T, Chung M Y, Banfi S, Kwiatkowski T J Jr, Servadio A, Beaudet A L, McCall AE, Duvick LA, Ranum LP Zoghbi HY (1993) Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nature Genet 4: 221–226 Google Scholar
Rich SS, Wilkie P, Schut L, Vanve G, Orr HT (1987) Spinocerebellar ataxia: localization of an autosomal dominant locus between two markers on human chromosome 6. Am J Hum Genet 41: 524–531 Google Scholar
Stanescu B, Evrard P, Michiel SJ, Lyon G (1980) Electroretinographic changes in a case of spino-cerebellar degeneration (SCD). Metab Pediatr Ophthalmol 4: 221–223 Google Scholar
Sternberger LA (1986) Immunocytochemistry, 3rd edn. Wiley and Sons, New-York Google Scholar
Subramony SH, Currier RD (1991) The classification of familial ataxias. Handb Clin Neurol 60: 271–284 Google Scholar
Takiyama Y, Nishizawa M, Tanaka H, Kawashima S, Sakamoto H, Karube Y, Shimazaki H, Soutome M, Endo K, Ohta S, Kagawa Y, Kanazawa I, Mizuno Y, Yoshida M, Yuasa T, Horikawa Y, Oyanagi K, Nagai H, Kondo T, Inuzuka T, Onodera O, Tsuji S (1993) The gene for Machado-Joseph disease maps to chromosome 14q. Nature Genet 4: 300–304 Google Scholar
Van Broeckhoven C, Backhovens H, Cruts M, De Winter G, Bruyland M, Cras P, Martin J-J (1992) Mapping of a gene predisposing to early-onset Alzheimer's disease to chromosome 14q24.3. Nature Genet 2: 335–339 Google Scholar
Verougstraete C, Toussaint D (1973) Dégénérescence tapétorétinienne avec ataxie cérébelleuse: étude clinique de plusieurs membres d' une même famille. Bull Soc Belge Ophtalmol 164: 285–295 Google Scholar
Weiner LP, Konigsmark BW, Stoll J Jr, Magladery JW (1967) Hereditary olivopontocerebellar atrophy with retinal degeneration. Report of a family through six generations. Arch Neurol 16: 364–376 Google Scholar
Yuasa T, Ohama E, Harayama H, Yamada M, Kawase Y, Wakabayashi M, Atsumi T, Miyatake T (1986) Joseph's disease: clinical and pathological studies in a japanese family. Ann Neurol 19: 152–157 Google Scholar
Zoghbi HY, Sandkuyl LA, Ott J, Daiger SP, Pollack M, O'Brien WE, Beaudet AL (1989) Assignment of autosomal dominant spinocerebellar ataxia (SCAI) centromeric to the HLA region on the short arm of chromosome 6, using multilocus linkage analysis. Am J Hum Genet 44: 255–263 Google Scholar