First appraisal of brain pathology owing to A30P mutant alpha-synuclein

Kay Seidel; Ludger Schöls; Silke Nuber; Elisabeth Petrasch-Parwez; Kristin Gierga; Zbigniew Wszolek; Dennis Dickson; Wei P. Gai; Antje Bornemann; Olaf Riess; Abdelhaq Rami; Wilfried F.A. Den Dunnen; Thomas Deller; Udo Rüb; Rejko Krüger

doi:10.1002/ana.21966

First appraisal of brain pathology owing to A30P mutant alpha-synuclein

Kay Seidel, Ludger Schöls, Silke Nuber, Elisabeth Petrasch-Parwez, Kristin Gierga, Zbigniew Wszolek, Dennis Dickson, Wei P. Gai, Antje Bornemann, Olaf Riess, Abdelhaq Rami, Wilfried F.A. Den Dunnen, Thomas Deller, Udo Rüb, Rejko Krüger

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Abstract

Familial Parkinson disease (PD) due to the A30P mutation in the SNCA gene encoding alpha-synuclein is clinically associated with PD symptoms. In this first pathoanatomical study of the brain of an A30P mutation carrier, we observed neuronal loss in the substantia nigra, locus coeruleus, and dorsal motor vagal nucleus, as well as widespread occurrence of alpha-synuclein immunopositive Lewy bodies, Lewy neurites, and glial aggregates. Alpha-synuclein aggregates ultrastructurally resembled Lewy bodies, and biochemical analyses disclosed a significant load of insoluble alpha-synuclein, indicating neuropathological similarities between A30P disease patients and idiopathic PD, with a more severe neuropathology in A30P carriers.

Original language	English (US)
Pages (from-to)	684-689
Number of pages	6
Journal	Annals of neurology
Volume	67
Issue number	5
DOIs	https://doi.org/10.1002/ana.21966
State	Published - May 2010

ASJC Scopus subject areas

Neurology
Clinical Neurology

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title = "First appraisal of brain pathology owing to A30P mutant alpha-synuclein",

abstract = "Familial Parkinson disease (PD) due to the A30P mutation in the SNCA gene encoding alpha-synuclein is clinically associated with PD symptoms. In this first pathoanatomical study of the brain of an A30P mutation carrier, we observed neuronal loss in the substantia nigra, locus coeruleus, and dorsal motor vagal nucleus, as well as widespread occurrence of alpha-synuclein immunopositive Lewy bodies, Lewy neurites, and glial aggregates. Alpha-synuclein aggregates ultrastructurally resembled Lewy bodies, and biochemical analyses disclosed a significant load of insoluble alpha-synuclein, indicating neuropathological similarities between A30P disease patients and idiopathic PD, with a more severe neuropathology in A30P carriers.",

author = "Kay Seidel and Ludger Sch{\"o}ls and Silke Nuber and Elisabeth Petrasch-Parwez and Kristin Gierga and Zbigniew Wszolek and Dennis Dickson and Gai, {Wei P.} and Antje Bornemann and Olaf Riess and Abdelhaq Rami and {Den Dunnen}, {Wilfried F.A.} and Thomas Deller and Udo R{\"u}b and Rejko Kr{\"u}ger",

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month = may,

doi = "10.1002/ana.21966",

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volume = "67",

pages = "684--689",

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AU - Seidel, Kay

AU - Schöls, Ludger

AU - Nuber, Silke

AU - Petrasch-Parwez, Elisabeth

AU - Gierga, Kristin

AU - Wszolek, Zbigniew

AU - Dickson, Dennis

AU - Gai, Wei P.

AU - Bornemann, Antje

AU - Riess, Olaf

AU - Rami, Abdelhaq

AU - Den Dunnen, Wilfried F.A.

AU - Deller, Thomas

AU - Rüb, Udo

AU - Krüger, Rejko

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N2 - Familial Parkinson disease (PD) due to the A30P mutation in the SNCA gene encoding alpha-synuclein is clinically associated with PD symptoms. In this first pathoanatomical study of the brain of an A30P mutation carrier, we observed neuronal loss in the substantia nigra, locus coeruleus, and dorsal motor vagal nucleus, as well as widespread occurrence of alpha-synuclein immunopositive Lewy bodies, Lewy neurites, and glial aggregates. Alpha-synuclein aggregates ultrastructurally resembled Lewy bodies, and biochemical analyses disclosed a significant load of insoluble alpha-synuclein, indicating neuropathological similarities between A30P disease patients and idiopathic PD, with a more severe neuropathology in A30P carriers.

AB - Familial Parkinson disease (PD) due to the A30P mutation in the SNCA gene encoding alpha-synuclein is clinically associated with PD symptoms. In this first pathoanatomical study of the brain of an A30P mutation carrier, we observed neuronal loss in the substantia nigra, locus coeruleus, and dorsal motor vagal nucleus, as well as widespread occurrence of alpha-synuclein immunopositive Lewy bodies, Lewy neurites, and glial aggregates. Alpha-synuclein aggregates ultrastructurally resembled Lewy bodies, and biochemical analyses disclosed a significant load of insoluble alpha-synuclein, indicating neuropathological similarities between A30P disease patients and idiopathic PD, with a more severe neuropathology in A30P carriers.

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First appraisal of brain pathology owing to A30P mutant alpha-synuclein

Abstract

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