SPECT study of a German CADASIL family: A phenotype with migraine and progressive dementia only

Neurology

Volumn 50, Issue 6, 1998, Pages 1715-1721

  Mellies, Jörg K ^d   Baumer T ^e   Muller J A ^e   Tournier Lasserve, E ^a   Chabriat, H ^b   Knobloch, O ^e   Hackeloer H J ^c   Goebel, H H ^e   Wetzig, L ^e   Haller, P ^e  

^a INSERM   (France)

^b HÔPITAL SAINT ANTOINE   (France)

^c Paracelsus Klinik Osnabruck   (Germany)

^d RUHR UNIVERSITY BOCHUM   (Germany)

^e NONE

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; BRAIN BLOOD FLOW; BRAIN MAPPING; CLINICAL ARTICLE; COGNITION; CONTROLLED STUDY; DEMENTIA; GENE LOCUS; GENETIC ANALYSIS; GERMANY; HUMAN; HUMAN CELL; HUMAN TISSUE; MIGRAINE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY;

EID: 0345367425     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.50.6.1715     Document Type: Article

References (53)

1. Tournier-Lasserve E, Joutel A, Melki J, et al. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12. Nat Genet 1993;3:256-259.
2. Chabriat H, Iba-Zizen MT, Joutel A, et al. Clinical spectrum of CADASIL: a study of 7 families. Lancet 1995;346:934-938.
3. Mas JL, Dilouya A, de Recondo J. Familial disorder with subcortical ischemic strokes, dementia and leukoencephalopathy. Neurology 1992;42:1015-1019.
4. Bousser MG, Tournier-Lasserve E. Summary of the proceedings of the First International Workshop on CADASIL. Paris, May 19-21, 1993. Stroke 1994;25:704-707.
5. Davous P, Bequet D. CADASIL - a new model of sub-cortical dementia. Rev Neurol (Paris) 1996;151:634-639.
6. Ducros A, Nagy T, Alamowitch S, et al. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Genetic homogeneity and mapping of the locus within a 2-cM interval. Am J Hum Genet 1996;58:171-181.
7. Joutel A, Corpechot C, Ducros A, et al. Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature 1996;383:707-710.
8. Skehan SJ, Hutchinson M, MacErlaine DP. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: MR findings. AJNR Am J Neuroradiol 1995;16:2115-2119.
9. Sabbadini G, Francia A, Calandriello L, et al. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Clinical, neuroimaging, pathological and genetic study of a large Italian family. Brain 1995;118:207-215.
10. Baudrimont M, Dubas F, Joutel A, Tournier-Lasserve E, Bousser MG. Autosomal dominant leukoencephalopathy and subcortical ischemic stroke. A clinicopathological study. Stroke 1993;24:122-125.
11. Schröder JM, Sellhaus B, Jörg J. Identification of the characteristic vascular changes in a sural nerve biopsy of a case with cerebral autosomal arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Acta Neuropathol 1995;89: 116-121.
12. Ruchoux MM, Chabriat H, Bousser MG, Baudrimont M, Tournier-Lasserve E. Presence of ultrastructural arterial lesions in muscle and skin vessels of patients with CADASIL. Stroke 1994;25:2291-2292.
13. Roman GC, Tatemichi TK, Erkinjuntti T, et al. Vascular dementia: diagnostic criteria for research studies. Report of the NINDS-AIREN International Workshop. Neurology 1993;43: 250-260.
14. Headache Classification Committee of the International Headache Society. Classification and diagnostic criteria for headache disorders, cranial neuralgias and facial pain. Cephalgia 1988;8:19-28.
15. Folstein MF, Folstein SE, McHugh PR. Mini-Mental State: a practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res 1975;12:189-198.
16. Erzigkeit H. Syndrom Kurztest (SKT). Ein Kurztest zur Erfassung von Gedächtnis- und Aufmerksamkeitsstörungen. Weinheim: Beltz Test GmbH, 1992.
17. Tewes U. Hamburg-Wechsler Intelligenztest für Erwachsene, revision 1991. 2. korr. Aufl. Bern: Verlag Hans Huber, 1994.
18. Heaton RK. Wisconsin Card Sorting Test manual. Odessa, FL: Psychological Assessment Resources, 1981.
19. Zimmermann P, Fimm B. Testbatterie zur Aufmerksamkeitsprüfung (TAP). Version 1.0. Würselen: Vera Fimm, Psychologische Testsysteme, 1993.
20. Metzler P, Verhage J, Rösler P. Berliner Amnesie Test (BAT). Göttingen: Hogrefe-Verlag für Psychologie, 1992.
21. Ströhle A, Richert A, Gutzmann H. Der Münchener Verbale Gedächtnistest (MVG) in der Demenzfrüherkennung. An experimental German version of the California Verbal Learning Test (CVLT) in the recognition of very mild dementia. Z Gerontopsychol Psychiatr 1996;1:55-64.
22. Wilson B, Cockburn J, Baddeley A. Rivermead Behavioural Memory Test (RBMT-D), German translation. Suffolk, UK: Thames Valley Test Company, 1992.
23. Hermann DO. Development of the Wechsler Memory Scale-Revised. Clin Neuropsychol 1988;2:102-106.
24. Delis D, Kramer JH, Kaplan E, Ober BA. California Verbal Learning Test. Manual. New York: Psychological Corporation, 1987.
25. Yesavage JA, Brink TL. Development and validation of a geriatric depression screening scale: a preliminary report. J Psychiatr Res 1982;19:31-49.
26. Huber W, Poeck K, Weninger D, Willmes K. Aachener Aphasie Test (AAT). Göttingen: Hogrefe-Verlag für Psychologie, 1983.
27. Scheltens PH, Barkoff F, Valk J, et al. White matter lesions on magnetic resonance imaging in clinically diagnosed Alzheimer's disease. Evidence for heterogeneity. Brain 1992;115: 735-748.
28. Vérin M, Rolland Y, Landgraf F, et al. New phenotype of the cerebral autosomal dominant arteriopathy mapped to chromosome 19: migraine as the prominent clinical feature. J Neurol Neurosurg Psychiatry 1995;59:579-585.
29. Hutchinson M, O'Riordan J, Javed M, et al. Familial hemiplegic migraine and autosomal dominant arteriopathy with leukoencephalopathy (CADASIL). Ann Neurol 1995;38:817-824.
30. Chabriat H, Tournier-Lasserve E, Vahedi K, et al. Autosomal dominant migraine with MRI white-matter abnormalities mapping to the CADASIL locus. Neurology 1995;45:1086-1091.
31. Ebke M, Dichgans M, Bergmann M, et al. CADASIL: skin biopsy allows diagnosis in early stages. Acta Neurol Scand 1997;95:351-357.
32. Bergmann M, Ebke M, Yuan Y, Bruck W, Mugler M, Schwendemann G. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): a morphological study of a German family. Acta Neuropathol (Berl) 1996;92:341-350.
33. Lenk U, Hanke R, Speer A. Carrier detection in DMD families with point mutations, using PCR-SSCP and direct sequencing. Neuromuscul Disord 1994;4:411-418.
34. Hedera P, Friedland RP. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: study of two American families with predominant dementia. J Neurol Sci 1997;146:27-33.
35. Malandrini A, Carrera P, Ciacci G, et al. Unusual clinical features and early brain MRI lesions in a family with cerebral autosomal dominant arteriopathy. Neurology 1997;48:1200-1203.
36. Dichgans M, Müller-Mmyhsok B, Gasser T. Haplotype analysis in 15 unrelated CADASIL pedigrees. J Neurol 1997; 244(suppl 3):S83. Abstract.
37. St. Clair D, Bolt J, Morris S, Doyle D. Hereditary multi-infarct dementia unlinked to chromosome 19q12 in a large Scottish pedigree: evidence of probable locus heterogeneity. J Med Genet 1995;32:57-60.
38. Jen JC, Cohen A, Yue Q, Baloh RW. Hereditary systemic vasculopathy with stroke, retinopathy and nephropathy. Neurology 1997;48(suppl 2):A328-A329. Abstract.
39. Joutel A, Tournier-Lasserve E, Bousser MG. Les migraines hemiplegiques [hemiplegic migraine]. Presse Med 1995;24: 411-414.
40. Vahedi K, Joutel A, Van Bogaert P, et al. A gene for hereditary paroxysmal cerebellar ataxia maps to chromosome 19p. Ann Neurol 1995;37:289-293.
41. Bennett C, Crawford F, Osborne A, et al. Evidence that the APOE locus influences rate of disease progression in late onset familial Alzheimer's disease but is not causative. Am J Med Genet 1995;60:1-6.
42. Horton YM, Sullivan M, Houslay MD. Molecular cloning of a novel splice variant of human type IVA (PDE-IVA) cyclic AMP phosphodiesterase and localization of the gene to the p13.2-q12 region of human chromosome 19 [corrected]. Biochem J 1995;308:683-691.
43. Joutel A, Ducros A, Vahedi K, et al. Genetic heterogeneity of familial hemiplegic migraine. Am J Hum Genet 1994;55: 1166-1172.
44. Ophoff RA, van Eijk R, Sandkuijl LA, et al. Genetic heterogeneity of familial hemiplegic migraine. Genomics 1994;22: 21-26.
45. Dichgans M, Mayer M, Müller-Mmyhsok B, Straube A, Gasser T. Identification of a key recombinant narrows the CADASIL gene region to 8 cM and argues against allelism of CADASIL and familial hemiplegic migraine. Genomics 1996;32:151-154.
46. Ragno M, Tournier-Lasserve E, Fiori MG, et al. An Italian kindred with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Ann Neurol 1995;38:231-236.
47. Davous P, Fallet-Bianco C. Familial subcortical dementia with arteriopathic leukoencephalopathy: a clinicopathological study. Rev Neurol (Paris) 1991;147:376-384.
48. Chabriat H, Bousser MG, Pappata S. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a positron emission tomography study in two affected family members. Stroke 1995;26:1729-1730.
49. Kobari M, Meyer JS, Ichijo M, Ovarez WT. Leukoaraiosis: correlation of MR and CT findings with blood flow, atrophy, and cognition. AJNR Am J Neuroradiol 1990;11:273-281.
50. Sacquena T, de Carolis P, Daidone R, Dondi M. SPECT with 99mTc-HMPAO in Binswanger's disease. Arch Neurol 1988; 45:603-604.
51. Corbett A, Bennet H, Kos S. Cognitive dysfunction following subcortical infarction. Arch Neurol 1994;51:999-1007.
52. Ishii N, Nishihara Y, Imamura T. Why do frontal lobe symptoms predominate in vascular dementia with lacunes? Neurology 1986;36:340-345.
53. Wolfe N, Linn R, Babikian VL, Knoefel JE, Albert ML. Frontal systems impairment following multiple lacunar infarcts. Arch Neurol 1990;47:129-132.