Autosomal dominant parkinsonism associated with variable synuclein and tau pathology

Zbigniew K. Wszolek; R. F. Pfeiffer; Y. Tsuboi; R. J. Uitti; R. D. McComb; A. J. Stoessl; A. J. Strongosky; A. Zimprich; B. Müller-Myhsok; M. J. Farrer; T. Gasser; D. B. Calne; D. W. Dickson

doi:10.1212/01.WNL.0000125015.06989.DB

Autosomal dominant parkinsonism associated with variable synuclein and tau pathology

Zbigniew K. Wszolek, R. F. Pfeiffer, Y. Tsuboi, R. J. Uitti, R. D. McComb, A. J. Stoessl, A. J. Strongosky, A. Zimprich, B. Müller-Myhsok, M. J. Farrer, T. Gasser, D. B. Calne, D. W. Dickson

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219 Scopus citations

Abstract

Since the original 1995 report of a parkinsonian kindred, four individuals have been affected (mean age at onset, 65 years). All four had cardinal signs of Parkinson disease (PD) and good response to levodopa. Four autopsies showed neuronal loss and gliosis in the substantia nigra. Lewy bodies (LB) limited to brainstem nuclei were detected in one case, diffuse LB in the second, neurofibrillary tangles (NFT) without LB in the third, and neither NFT nor LB in the fourth. Genetic studies suggested linkage to the PARK8 locus on chromosome 12.

Original language	English (US)
Pages (from-to)	1619-1622
Number of pages	4
Journal	Neurology
Volume	62
Issue number	9
DOIs	https://doi.org/10.1212/01.WNL.0000125015.06989.DB
State	Published - May 11 2004

ASJC Scopus subject areas

Clinical Neurology

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Wszolek, Z. K., Pfeiffer, R. F., Tsuboi, Y., Uitti, R. J., McComb, R. D., Stoessl, A. J., Strongosky, A. J., Zimprich, A., Müller-Myhsok, B., Farrer, M. J., Gasser, T., Calne, D. B., & Dickson, D. W. (2004). Autosomal dominant parkinsonism associated with variable synuclein and tau pathology. Neurology, 62(9), 1619-1622. https://doi.org/10.1212/01.WNL.0000125015.06989.DB

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abstract = "Since the original 1995 report of a parkinsonian kindred, four individuals have been affected (mean age at onset, 65 years). All four had cardinal signs of Parkinson disease (PD) and good response to levodopa. Four autopsies showed neuronal loss and gliosis in the substantia nigra. Lewy bodies (LB) limited to brainstem nuclei were detected in one case, diffuse LB in the second, neurofibrillary tangles (NFT) without LB in the third, and neither NFT nor LB in the fourth. Genetic studies suggested linkage to the PARK8 locus on chromosome 12.",

author = "Wszolek, {Zbigniew K.} and Pfeiffer, {R. F.} and Y. Tsuboi and Uitti, {R. J.} and McComb, {R. D.} and Stoessl, {A. J.} and Strongosky, {A. J.} and A. Zimprich and B. M{\"u}ller-Myhsok and Farrer, {M. J.} and T. Gasser and Calne, {D. B.} and Dickson, {D. W.}",

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AU - Wszolek, Zbigniew K.

AU - Pfeiffer, R. F.

AU - Tsuboi, Y.

AU - Uitti, R. J.

AU - McComb, R. D.

AU - Stoessl, A. J.

AU - Strongosky, A. J.

AU - Zimprich, A.

AU - Müller-Myhsok, B.

AU - Farrer, M. J.

AU - Gasser, T.

AU - Calne, D. B.

AU - Dickson, D. W.

PY - 2004/5/11

Y1 - 2004/5/11

N2 - Since the original 1995 report of a parkinsonian kindred, four individuals have been affected (mean age at onset, 65 years). All four had cardinal signs of Parkinson disease (PD) and good response to levodopa. Four autopsies showed neuronal loss and gliosis in the substantia nigra. Lewy bodies (LB) limited to brainstem nuclei were detected in one case, diffuse LB in the second, neurofibrillary tangles (NFT) without LB in the third, and neither NFT nor LB in the fourth. Genetic studies suggested linkage to the PARK8 locus on chromosome 12.

AB - Since the original 1995 report of a parkinsonian kindred, four individuals have been affected (mean age at onset, 65 years). All four had cardinal signs of Parkinson disease (PD) and good response to levodopa. Four autopsies showed neuronal loss and gliosis in the substantia nigra. Lewy bodies (LB) limited to brainstem nuclei were detected in one case, diffuse LB in the second, neurofibrillary tangles (NFT) without LB in the third, and neither NFT nor LB in the fourth. Genetic studies suggested linkage to the PARK8 locus on chromosome 12.

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Autosomal dominant parkinsonism associated with variable synuclein and tau pathology

Abstract

ASJC Scopus subject areas

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