Rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration

Zbigniew K Wszolek, R. F. Pfeiffer, M. H. Bhatt, R. L. Schelper, M. Cordes, B. J. Snow, R. L. Rodnitzky, E. Ch Wolters, F. Arwert, D. B. Calne

Research output: Contribution to journalArticle

177 Citations (Scopus)

Abstract

We describe a family with nearly 300 members over 8 generations with 32 affected individuals who have an autosomal dominant neurodegenerative disease characterized by progressive parkinsonism with dystonia unrelated to medications, dementia, ocular motility abnormalities, pyramidal tract dysfunction, frontal lobe release signs, perseverative vocalizations, and urinary incontinence. The course is exceptionally aggressive; symptom onset and death consistently occur in the fifth decade. Positron emission tomographic studies with {18F}6-fluoro-L-dopa (6FD) were performed is 4 patients and 7 individuals at risk for development of the disease. All affected subjects had markedly reduced striatal uptake of 6FD (p < 0.001). All individuals at risk had normal striatal uptake, but high 6FD uptake rate constants were noted in 3 of the 7 studied. Autopsy findings revealed severe neuronal loss with gliosis in substantia nigra, pontine tegmentum, and globus pallidus, with less involvement of the caudate and the putamen. There were no plaques, tangles, Lewy bodies, or amyloid bodies. This kindred appears to represent a neurodegenerative disease not heretofore described. We propose the following name for this new genetic disease: autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration.

Original languageEnglish (US)
Pages (from-to)312-320
Number of pages9
JournalAnnals of Neurology
Volume32
Issue number3
StatePublished - Sep 1992
Externally publishedYes

Fingerprint

Parkinsonian Disorders
Levodopa
Substantia Nigra
Dementia
Corpus Striatum
Neurodegenerative Diseases
Eye Abnormalities
Lewy Bodies
Pyramidal Tracts
Inborn Genetic Diseases
Globus Pallidus
Gliosis
Dystonia
Putamen
Urinary Incontinence
Frontal Lobe
Amyloid
Names
Autopsy
Electrons

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Wszolek, Z. K., Pfeiffer, R. F., Bhatt, M. H., Schelper, R. L., Cordes, M., Snow, B. J., ... Calne, D. B. (1992). Rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration. Annals of Neurology, 32(3), 312-320.

Rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration. / Wszolek, Zbigniew K; Pfeiffer, R. F.; Bhatt, M. H.; Schelper, R. L.; Cordes, M.; Snow, B. J.; Rodnitzky, R. L.; Wolters, E. Ch; Arwert, F.; Calne, D. B.

In: Annals of Neurology, Vol. 32, No. 3, 09.1992, p. 312-320.

Research output: Contribution to journalArticle

Wszolek, ZK, Pfeiffer, RF, Bhatt, MH, Schelper, RL, Cordes, M, Snow, BJ, Rodnitzky, RL, Wolters, EC, Arwert, F & Calne, DB 1992, 'Rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration', Annals of Neurology, vol. 32, no. 3, pp. 312-320.
Wszolek ZK, Pfeiffer RF, Bhatt MH, Schelper RL, Cordes M, Snow BJ et al. Rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration. Annals of Neurology. 1992 Sep;32(3):312-320.
Wszolek, Zbigniew K ; Pfeiffer, R. F. ; Bhatt, M. H. ; Schelper, R. L. ; Cordes, M. ; Snow, B. J. ; Rodnitzky, R. L. ; Wolters, E. Ch ; Arwert, F. ; Calne, D. B. / Rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration. In: Annals of Neurology. 1992 ; Vol. 32, No. 3. pp. 312-320.
@article{684167cab8d842e8b5ea9256e087c27d,
title = "Rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration",
abstract = "We describe a family with nearly 300 members over 8 generations with 32 affected individuals who have an autosomal dominant neurodegenerative disease characterized by progressive parkinsonism with dystonia unrelated to medications, dementia, ocular motility abnormalities, pyramidal tract dysfunction, frontal lobe release signs, perseverative vocalizations, and urinary incontinence. The course is exceptionally aggressive; symptom onset and death consistently occur in the fifth decade. Positron emission tomographic studies with {18F}6-fluoro-L-dopa (6FD) were performed is 4 patients and 7 individuals at risk for development of the disease. All affected subjects had markedly reduced striatal uptake of 6FD (p < 0.001). All individuals at risk had normal striatal uptake, but high 6FD uptake rate constants were noted in 3 of the 7 studied. Autopsy findings revealed severe neuronal loss with gliosis in substantia nigra, pontine tegmentum, and globus pallidus, with less involvement of the caudate and the putamen. There were no plaques, tangles, Lewy bodies, or amyloid bodies. This kindred appears to represent a neurodegenerative disease not heretofore described. We propose the following name for this new genetic disease: autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration.",
author = "Wszolek, {Zbigniew K} and Pfeiffer, {R. F.} and Bhatt, {M. H.} and Schelper, {R. L.} and M. Cordes and Snow, {B. J.} and Rodnitzky, {R. L.} and Wolters, {E. Ch} and F. Arwert and Calne, {D. B.}",
year = "1992",
month = "9",
language = "English (US)",
volume = "32",
pages = "312--320",
journal = "Annals of Neurology",
issn = "0364-5134",
publisher = "John Wiley and Sons Inc.",
number = "3",

}

TY - JOUR

T1 - Rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration

AU - Wszolek, Zbigniew K

AU - Pfeiffer, R. F.

AU - Bhatt, M. H.

AU - Schelper, R. L.

AU - Cordes, M.

AU - Snow, B. J.

AU - Rodnitzky, R. L.

AU - Wolters, E. Ch

AU - Arwert, F.

AU - Calne, D. B.

PY - 1992/9

Y1 - 1992/9

N2 - We describe a family with nearly 300 members over 8 generations with 32 affected individuals who have an autosomal dominant neurodegenerative disease characterized by progressive parkinsonism with dystonia unrelated to medications, dementia, ocular motility abnormalities, pyramidal tract dysfunction, frontal lobe release signs, perseverative vocalizations, and urinary incontinence. The course is exceptionally aggressive; symptom onset and death consistently occur in the fifth decade. Positron emission tomographic studies with {18F}6-fluoro-L-dopa (6FD) were performed is 4 patients and 7 individuals at risk for development of the disease. All affected subjects had markedly reduced striatal uptake of 6FD (p < 0.001). All individuals at risk had normal striatal uptake, but high 6FD uptake rate constants were noted in 3 of the 7 studied. Autopsy findings revealed severe neuronal loss with gliosis in substantia nigra, pontine tegmentum, and globus pallidus, with less involvement of the caudate and the putamen. There were no plaques, tangles, Lewy bodies, or amyloid bodies. This kindred appears to represent a neurodegenerative disease not heretofore described. We propose the following name for this new genetic disease: autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration.

AB - We describe a family with nearly 300 members over 8 generations with 32 affected individuals who have an autosomal dominant neurodegenerative disease characterized by progressive parkinsonism with dystonia unrelated to medications, dementia, ocular motility abnormalities, pyramidal tract dysfunction, frontal lobe release signs, perseverative vocalizations, and urinary incontinence. The course is exceptionally aggressive; symptom onset and death consistently occur in the fifth decade. Positron emission tomographic studies with {18F}6-fluoro-L-dopa (6FD) were performed is 4 patients and 7 individuals at risk for development of the disease. All affected subjects had markedly reduced striatal uptake of 6FD (p < 0.001). All individuals at risk had normal striatal uptake, but high 6FD uptake rate constants were noted in 3 of the 7 studied. Autopsy findings revealed severe neuronal loss with gliosis in substantia nigra, pontine tegmentum, and globus pallidus, with less involvement of the caudate and the putamen. There were no plaques, tangles, Lewy bodies, or amyloid bodies. This kindred appears to represent a neurodegenerative disease not heretofore described. We propose the following name for this new genetic disease: autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration.

UR - http://www.scopus.com/inward/record.url?scp=0026775551&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0026775551&partnerID=8YFLogxK

M3 - Article

C2 - 1416801

AN - SCOPUS:0026775551

VL - 32

SP - 312

EP - 320

JO - Annals of Neurology

JF - Annals of Neurology

SN - 0364-5134

IS - 3

ER -