DOMINANTLY INHERITED, EARLY-ONSET PARKINSONISM - NEUROPATHOLOGY OF ANEW FORM

被引:40
作者
DWORK, AJ
BALMACEDA, C
FAZZINI, EA
MACCOLLIN, M
COTE, L
FAHN, S
机构
[1] COLUMBIA UNIV COLL PHYS & SURG,DEPT PATHOL,DIV NEUROPATHOL,NEW YORK,NY 10032
[2] COLUMBIA UNIV COLL PHYS & SURG,DEPT PSYCHIAT,NEW YORK,NY 10032
[3] COLUMBIA UNIV COLL PHYS & SURG,DEPT NEUROL,NEW YORK,NY 10032
关键词
D O I
10.1212/WNL.43.1_Part_1.69
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
We report postmortem findings in a 46-year-old man with dominantly inherited parkinsonism whose symptoms started at age 28. At least 13 other family members in three generations have been affected, some from early childhood. Dystonia is a prominent feature in several of the youngest patients, but was not present in this patient. After several years of successful treatment with medication, he developed severe on-off fluctuations and dyskinesias. At age 45, the patient underwent stereotaxic implantation of autologous adrenal medullary tissue into the left corpus striatum and lateral ventricle. He improved considerably over the following 6 months, but then developed glioblastoma multiforme and died 1 year after transplantation. There was severe neuronal loss in the pars compacta and pars reticulata of the substantia nigra, with prominent gliosis in the pars reticulata. The nigral neurons remaining in the pars compacta were poorly pigmented. Neither Lewy bodies nor neurofibrillary tangles were present, and we identified no other degenerative neuropathologic changes. This combination of pathologic and clinical features differs from any previously reported case.
引用
收藏
页码:69 / 74
页数:6
相关论文
共 29 条
  • [1] Bury JS, 1902, LANCET, V1, P1097
  • [2] PALLIDO-PYRAMIDAL DISEASE
    DAVISON, C
    [J]. JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 1954, 13 (01) : 50 - 59
  • [3] STEREOTAXIC IMPLANTATION OF AUTOLOGOUS ADRENAL-MEDULLA INTO CAUDATE-NUCLEUS IN 4 PATIENTS WITH PARKINSONISM - ONE-YEAR FOLLOW-UP
    FAZZINI, E
    DWORK, AJ
    BLUM, C
    BURKE, R
    COTE, L
    GOODMAN, RR
    JACOBS, TP
    NAINI, AB
    PEZZOLI, G
    PULLMAN, S
    SOLOMON, RA
    TRUONG, D
    WEBER, CJ
    FAHN, S
    [J]. ARCHIVES OF NEUROLOGY, 1991, 48 (08) : 813 - 820
  • [4] GIBB WRG, 1989, J NEUROL NEUROSUR PS, P55
  • [5] NEW PATHOLOGICAL OBSERVATIONS IN JUVENILE ONSET PARKINSONISM WITH DYSTONIA
    GIBB, WRG
    NARABAYASHI, H
    YOKOCHI, M
    IIZUKA, R
    LEES, AJ
    [J]. NEUROLOGY, 1991, 41 (06) : 820 - 822
  • [6] A COMPARISON OF CLINICAL AND PATHOLOGICAL FEATURES OF YOUNG-ONSET AND OLD-ONSET PARKINSONS-DISEASE
    GIBB, WRG
    LEES, AJ
    [J]. NEUROLOGY, 1988, 38 (09) : 1402 - 1406
  • [7] ANATOMY, PIGMENTATION, VENTRAL AND DORSAL SUBPOPULATIONS OF THE SUBSTANTIA-NIGRA, AND DIFFERENTIAL CELL-DEATH IN PARKINSONS-DISEASE
    GIBB, WRG
    LEES, AJ
    [J]. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1991, 54 (05) : 388 - 396
  • [8] GLOBE LI, 1991, NEUROLOGY, V41, P168
  • [9] GLOBE LI, 1990, ANN NEUROL, V27, P276
  • [10] Hunt JR, 1917, BRAIN, V40, P58