Autosomal dominant hereditary spastic paraparesis with cognitive loss linked to chromosome 2p

Brain

Volumn 121, Issue 4, 1998, Pages 601-609

  Webb, Stewart ^a,c   Coleman, David ^b   Byrne, Paula ^b   Parfrey, Nollaig ^b   Burke, Teresa ^b   Hutchinson, Judith ^b   Hutchinson, Michael ^a  

^a ST VINCENT S UNIVERSITY HOSPITAL   (Ireland)

^b UNIVERSITY COLLEGE DUBLIN   (Ireland)

^c NHS GREATER GLASGOW AND CLYDE   (United Kingdom)

Author keywords

Cognitive impairment; Genetic linkage; Hereditary spastic paraparesis

Indexed keywords

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 2P; CLINICAL ARTICLE; COGNITIVE DEFECT; CONTROLLED STUDY; DISEASE SEVERITY; FAMILY; FEMALE; GENE LOCUS; GENETIC LINKAGE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; NEUROPSYCHOLOGICAL TEST; NORMAL HUMAN; ONSET AGE; PRIORITY JOURNAL;

ADULT; CHILD; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 2; COGNITION DISORDERS; FEMALE; GENES, DOMINANT; HUMANS; INTELLIGENCE; INTELLIGENCE TESTS; LINKAGE (GENETICS); MALE; MEMORY; PEDIGREE; PSYCHOLOGICAL TESTS; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 0031976287     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/121.4.601     Document Type: Article

References (50)

1. American Psychiatric Association. Diagnostic and statistical manual of mental disorders (DSM-IV). 4th ed. Washington DC: American Psychiatric Association, 1994.
2. Arjundas G, Ramamurthi B, Chettur L. Familial spastic paraplegia (a review with four case reports ). J Assoc Physicians India 1971; 19: 653-7.
3. Benton AL, Hamsher K deS, Varney NR, Spreen O. Contributions to neuropsychological assessment. New York: Oxford University Press, 1983.
4. Bruyn RP. Hereditary spastic paraparesis: clinical, neurophysiological and genetic aspects. Amsterdam: ICG Publications, 1995: 113-29.
5. Bruyn RP, Ophoff RA, van Eyk R, van Deutekom JCT, Scheltens Ph, Frants RR. Familial spastic paraplegia: evidence for a fourth locus. In: Bruyn RP. Hereditary spastic paraparesis: clinical, neurophysiological and genetic aspects. Amsterdam: ICG publications, 1995: 87-94.
6. Burdick AB, Owens LA, Peterson CR. Slowly progressive autosomal dominant spastic paraplegia with late onset, variable expression and reduced penetrance: a basis for diagnosis and counseling. Clin Genet 1981; 19: 1-7.
7. Cross HE, McKusick VA. The Mast syndrome: a recessively inherited form of presenile dementia with motor disturbances. Arch Neurol 1967; 16: 1-13.
8. Cummings JL. Subcortical dementia: neuropsychology, neuropsychiatry, and pathophysiology. [Review]. Br J Psychiatry 1986; 149: 682-97.
9. D'Hooghe M. Probable cases of mast syndrome in a non Amish family [letter]. J Neurol Neurosurg Psychiatry 1992; 55: 1210.
10. Dimitrijevic MR, Lenman JA, Prevec T, Wheatly K. A study of posterior column function in familial spastic paraplegia. J Neurol Neurosurg Psychiatry 1982; 45: 46-9.
11. Dürr A, Brice A, Serdaru M, Rancurel G, Derouesne C, Lyon-Caen O, et al. The phenotype of 'pure' autosomal dominant spastic paraplegia. Neurology 1994; 44: 1274-7.
12. Dürr A, Davoine C-S, Paternotte C, von Fellenberg J, Cogilinicaen S, Coutinho P, et al. Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2. Brain 1996; 119: 1487-96.
13. Farmer SG, Longstreth WT Jr, Kalina RE, Todorov AB. Fleck retina in Kjellin's syndrome. Am J Ophthalmol 1985; 99: 45-50.
14. Farrer LA, Conneally PM. Predictability of phenotype in Huntington's disease. Arch Neurol 1987; 44: 109-13.
15. Ferrer I, Olive M, Revera R, Pou A, Narberhaus B, Ugarte A. Hereditary spastic paraparesis with dementia, amyotrophy and peripheral neuropathy: a neuropathological study. Neuropathol Appl Neurobiol 1995; 21: 255-61.
16. Fink JK, Wu CT, Jones SM, Sharp GB, Lange BM, Lesicki A, et al. Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q. Am J Hum Genet 1995; 56: 188-92.
17. Fink JK, Heiman-Patterson T, Bird T, Cambi F, Dube MP, Figlewicz DA, et al. Hereditary spastic paraplegia: advances in genetic research. [Review]. Neurology 1996; 46: 1507-14.
18. Fuld PA. Guaranteed stimulus-processing in the evaluation of memory and learning. Cortex 1980; 16: 255-71.
19. Harding AE. Hereditary 'pure' spastic paraplegia: a clinical and genetic study of 22 families. J Neurol Neurosurg Psychiatry. 1981; 44: 871-83.
20. Hazan J, Lamy C, Melki J, Munnich A, de Recondo J, Weissenbach J. Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q. Nat Genet 1993; 5: 163-7.
21. Hazan J, Fontaine B, Bruyn RP, Lamy C, van Deutekom JC, Rime CS, et al. Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p. Hum Mol Genet 1994; 3: 1569-73.
22. Heaton RK. Wisconsin Card Sorting: manual. Odessa (FL). Psychological Assessment Resources, 1981.
23. Heuyer G, Lebovici S, Seignot S. Paraplégie spasmodique familiale avec affaiblissement intellectuel chez deux soeurs: maladie de Schilder? Arch Franc Pédiat 1952; 9: 62-65.
24. Itoh Y, Yamada M, Hayakawa M, Shozawa T, Tanaka J, Matsushita M, et al. A variant of Gerstmann-Sträussler-Scheinker disease carrying codon 105 mutation with codon 129 polymorphism of the prion protein gene: a clinicopathological study. [Review]. J Neurol Sci 1994; 127: 77-86.
25. Kitamoto T, Amano N, Terao Y, Nakazato Y, Isshiki T, Mizutani T, et al. A new inherited prion disease (PrP-P105L mutation) showing spastic paraparesis. Ann Neurol 1993; 34: 808-13.
26. Kokmen E, Naessens JM, Offord KP. A short test of mental status: description and preliminary results. Mayo Clin Proc 1987; 62: 281-8.
27. Ledic P, Van Bogaert L. Heredodegenerescence cerebelleuse et spastique avec degenerescence maculaire. J Genet Hum 1960; 9: 140-57.
28. Lezak MD. Neuropsychological assessment. 3rd ed. New York: Oxford University Press, 1995: 682-3
29. Manson JS. Hereditary spastic paraplegia with ataxia and mental defect. Brit M J 1920; ii: 477.
30. Neary D, Snowden JS, Mann D, Northern B, Goulding PJ, MacDermott N. Frontal lobe dementia and motor neuron disease. J Neurol Neurosurg Psychiatry 1990; 53: 23-32.
31. Nelson HE. The National Adult Reading Text (NART): test manual. Windsor (UK): NFER-Nelson, 1982.
32. Northrup H. Tuberous sclerosis complex: genetic aspects. [Review]. J Dermatol 1992; 19: 914-9.
33. Polo JM, Calleja J, Combarros O, Berciano J. Hereditary 'pure' spastic paraplegia: a study of nine families. J Neurol Neurosurg Psychiatry 1993; 56: 175-81.
34. Rhein JH. Family spastic paralysis. J Nerv Mental Dis 1916; 44: 115-44, 224-42.
35. Rosenberg RN. Machado-Joseph disease: an autosomal dominant motor system degeneration. [Review]. Mov Disord 1992; 7: 193-203.
36. Roth M, Tym E, Mountjoy CQ, Hupprt FA, Hendrie H, Verma S, et al. CAMDEX. Br J Psychiatry 1986; 149: 698-709.
37. Rothner AD, Yahr F, Yahr MD. Familial spastic paraparesis, optic atrophy, and dementia: clinical observations of affected kindred. N Y State J Med 1976; 76: 756-8.
38. Schonell FJ, Goodacre E. Psychology and teaching of reading. 5th ed. Edinburgh: Oliver and Boyd, 1974.
39. Sjaastad O, Berstad J, Gjesdahl P, Gjessing L. Homocarnosinosis. 2. A familial metabolic disorder associated with spastic paraplegia, progressive mental deficiency, and retinal pigmentation. Acta Neurol Scand 1976; 53: 275-90.
40. Skre H. Hereditary spastic paraplegia in Western Norway. Clin Genet 1974; 6: 165-83.
41. Smith A. Symbol Digit Modalities Test (SDMT). Manual (revised). Los Angeles: Western Psychological Services, 1982.
42. Strümpell A. Beiträge zur Pathologie des Rückenmarks. Arch Psychiat Nervkh 1880; 10: 676-717.
43. Sutherland JM. Familial spastic paraplegia. In: Vinken PJ, Bruyn GW, editors. Handbook of clinical neurology, Vol. 22. Amsterdam: North-Holland, 1975: 421-31.
44. Tedeschi G, Allocca S, Di Costanzo A, Carlomagno S, Merla F, Petretta V, et al. Multisystem involvement of the central nervous system in Strümpells disease A neurophysiological and neuropsychological study. J Neurol Sci 1991; 103: 55-60.
45. Terwilliger JD, Ott J. Age-dependent penetrance. In: Terwilliger JD, Ott J. Handbook of human genetic linkage. John's Hopkins University Press, 1994: 65-9.
46. Tiffin J. Purdue Pegboard Examiner's Manual. Rosemont (IL): London House, 1968.
47. Wechsler D. Wechsler Adult Intelligence Scale-Revised. New York: Psychological Corporation, 1981.
48. Wechsler D. Wechsler Memory Scale-Revised. New York: Psychological Corporation, 1987.
49. Worster-Drought C, Greenfield JG, McMenemey WH. A form of familial presenile dementia with spastic paralysis. Brain 1940; 63: 237-54
50. Worster-Drought C, Greenfield JG, McMenemey WH. A form of familial presenile dementia with spastic paralysis. Brain 1944; 67: 38-43.