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, Weiping Gai, Antje Bornemann, Olaf Riess, Abdelhaq Rami, Wilfried 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
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
Publication status	Published - May 2010

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10.1002/ana.21966

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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 Weiping Gai and Antje Bornemann and Olaf Riess and Abdelhaq Rami and {den Dunnen}, Wilfried and Thomas Deller and Udo R{\"u}b and Rejko Kr{\"u}ger",

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doi = "10.1002/ana.21966",

language = "English",

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pages = "684--689",

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T1 - First Appraisal of Brain Pathology Owing to A30P Mutant Alpha-Synuclein

AU - Seidel, Kay

AU - Schöls, Ludger

AU - Nuber, Silke

AU - Petrasch-Parwez, Elisabeth

AU - Gierga, Kristin

AU - Wszolek, Zbigniew

AU - Dickson, Dennis

AU - Gai, Weiping

AU - Bornemann, Antje

AU - Riess, Olaf

AU - Rami, Abdelhaq

AU - den Dunnen, Wilfried

AU - Deller, Thomas

AU - Rüb, Udo

AU - Krüger, Rejko

PY - 2010/5

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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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U2 - 10.1002/ana.21966

DO - 10.1002/ana.21966

M3 - Article

SN - 0364-5134

VL - 67

SP - 684

EP - 689

JO - Annals of Neurology

JF - Annals of Neurology

IS - 5

ER -

First Appraisal of Brain Pathology Owing to A30P Mutant Alpha-Synuclein

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