Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature

Neuropathology of PARK14 is identical to idiopathic Parkinson's disease

(2017) Yasuo Miki et al.   MOVEMENT DISORDERS

Clinical and neuropathological features of progressive supranuclear palsy in Leucine rich repeat kinase (LRRK2 ) G2019S mutation carriers

(2017) Dolores Vilas et al.   MOVEMENT DISORDERS

A clinicopathological approach to the diagnosis of dementia

(2017) Fanny M. Elahi et al.   Nature Reviews Neurology

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

(2016) Suzanne Lesage et al.   AMERICAN JOURNAL OF HUMAN GENETICS

DJ-1 linked parkinsonism (PARK7) is associated with Lewy body pathology

(2016) Ricardo Taipa et al.   BRAIN

PLA2G6mutations and Parkinsonism: Long-term follow-up of clinical features and neuropathology

(2016) Christine Klein et al.   MOVEMENT DISORDERS

Analysis of DNAJC13 mutations in French-Canadian/French cohort of Parkinson's disease

(2016) Jay P. Ross et al.   NEUROBIOLOGY OF AGING

Next-generation sequencing reveals substantial genetic contribution to dementia with Lewy bodies

(2016) Joshua T. Geiger et al.   NEUROBIOLOGY OF DISEASE

LRRK2 variation and dementia with Lewy bodies

(2016) Michael G. Heckman et al.   PARKINSONISM & RELATED DISORDERS

Autosomal dominant Parkinson's disease caused by SNCA duplications

(2016) Takuya Konno et al.   PARKINSONISM & RELATED DISORDERS

Movement disorders and other motor abnormalities in adults with 22q11.2 deletion syndrome

(2015) Erik Boot et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

No parkinsonism in SCA2 and SCA3 despite severe neurodegeneration of the dopaminergic substantia nigra

(2015) Ludger Schöls et al.   BRAIN

Heterozygote carriers for CNVs inPARK2are at increased risk of Parkinson's disease

(2015) Johanna Huttenlocher et al.   HUMAN MOLECULAR GENETICS

CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study

(2015) Manabu Funayama et al.   LANCET NEUROLOGY

Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation

(2015) Aoife P. Kiely et al.   Molecular Neurodegeneration

A new F-box protein 7 gene mutation causing typical Parkinson's disease

(2015) Ebba Lohmann et al.   MOVEMENT DISORDERS

PARK10 is a major locus for sporadic neuropathologically confirmed Parkinson disease

(2015) G. W. Beecham et al.   NEUROLOGY

A Peruvian family with a novel PARK2 mutation: Clinical and pathological characteristics

(2015) Mario R. Cornejo-Olivas et al.   PARKINSONISM & RELATED DISORDERS

Parkinsonism in Spinocerebellar Ataxia

(2015) Hyeyoung Park et al.   Biomed Research International

Clinical Correlations With Lewy Body Pathology inLRRK2-Related Parkinson Disease

(2015) Lorraine V. Kalia et al.   JAMA Neurology

Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers

(2014) Niccolò E. Mencacci et al.   BRAIN

Clinical progression of SYNJ1-related early onset atypical parkinsonism: 3-year follow up of the original Italian family

(2014) Marina Picillo et al.   JOURNAL OF NEUROLOGY

A novel α-synuclein mutation A53E associated with atypical multiple system atrophy and Parkinson's disease-type pathology

(2014) Petra Pasanen et al.   NEUROBIOLOGY OF AGING

Low clinical diagnostic accuracy of early vs advanced Parkinson disease: Clinicopathologic study

(2014) C. H. Adler et al.   NEUROLOGY

A new Turkish family with homozygous FBXO7 truncating mutation and juvenile atypical parkinsonism

(2014) Gul Yalcin-Cakmakli et al.   PARKINSONISM & RELATED DISORDERS

Synaptojanin 1 Mutation in Parkinson’s Disease Brings Further Insight into the Neuropathological Mechanisms

(2014) Valérie Drouet et al.   Biomed Research International

A 6.4 Mb Duplication of the α-Synuclein Locus Causing Frontotemporal Dementia and Parkinsonism

(2014) Eleanna Kara et al.   JAMA Neurology

One complex world of mitochondrial parkinsonism

(2013) Patrick F. Chinnery   BRAIN

Mesencephalic complex I deficiency does not correlate with parkinsonism in mitochondrial DNA maintenance disorders

(2013) Eino J. H. Palin et al.   BRAIN

DNAJC13 mutations in Parkinson disease

(2013) Carles Vilariño-Güell et al.   HUMAN MOLECULAR GENETICS

FBXO7 Immunoreactivity in α-Synuclein—Containing Inclusions in Parkinson Disease and Multiple System Atrophy

(2013) Tianna Zhao et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Lewy body pathology in a patient with a homozygousParkindeletion

(2013) Saori Miyakawa et al.   MOVEMENT DISORDERS

Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease

(2013) Silke Appel-Cresswell et al.   MOVEMENT DISORDERS

Parkinson's disease with Lewy bodies associated with a heterozygousPARKINdosage mutation

(2013) Madeleine E. Sharp et al.   MOVEMENT DISORDERS

The many faces of alpha-synuclein mutations

(2013) Meike Kasten et al.   MOVEMENT DISORDERS

The Parkinson's disease–linked proteins Fbxo7 and Parkin interact to mediate mitophagy

(2013) Victoria S Burchell et al.   NATURE NEUROSCIENCE

Parkinson's Disease and Parkinsonism: Neuropathology

(2013) D. W. Dickson   Cold Spring Harbor Perspectives in Medicine

Association Between Early-Onset Parkinson Disease and 22q11.2 Deletion Syndrome

(2013) Nancy J. Butcher et al.   JAMA Neurology

Parkin Disease

(2013) Karen M. Doherty et al.   JAMA Neurology

Extensive aggregation of α-synuclein and tau in juvenile-onset neuroaxonal dystrophy: an autopsied individual with a novel mutation in the PLA2G6 gene-splicing site

(2013) Yuichi Riku et al.   Acta Neuropathologica Communications

Lewy body pathology and typical Parkinson disease in a patient with a heterozygous (R275W) mutation in the Parkin gene (PARK2)

(2012) Claudio Ruffmann et al.   ACTA NEUROPATHOLOGICA

Brain pathology of spinocerebellar ataxias

(2012) Kay Seidel et al.   ACTA NEUROPATHOLOGICA

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

(2012) Jose Bras et al.   HUMAN MOLECULAR GENETICS

The neuropathology of genetic Parkinson's disease

(2012) Markos Poulopoulos et al.   MOVEMENT DISORDERS

New NBIA subtype: Genetic, clinical, pathologic, and radiographic features of MPAN

(2012) P. Hogarth et al.   NEUROLOGY

A Deleterious Mutation in DNAJC6 Encoding the Neuronal-Specific Clathrin-Uncoating Co-Chaperone Auxilin, Is Associated with Juvenile Parkinsonism

(2012) Simon Edvardson et al.   PLoS One

Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation

(2011) Monika B. Hartig et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Translation Initiator EIF4G1 Mutations in Familial Parkinson Disease

(2011) Marie-Christine Chartier-Harlin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical and Pathological Characteristics of LRRK2 G2019S Patients with PD

(2011) Markos Poulopoulos et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Glucocerebrosidase mutations do not cause increased Lewy body pathology in Parkinson's disease

(2011) Laura Parkkinen et al.   MOLECULAR GENETICS AND METABOLISM

Movement disorders in spinocerebellar ataxias

(2011) Judith van Gaalen et al.   MOVEMENT DISORDERS

A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers

(2011) Fabiana H.G. Farias et al.   NEUROBIOLOGY OF DISEASE

First neuropathological description of a patient with Parkinson’s disease and LRRK2 p.N1437H mutation

(2011) Andreas Puschmann et al.   PARKINSONISM & RELATED DISORDERS

Involvement of the cerebral cortex in Parkinson disease linked with G2019S LRRK2 mutation without cognitive impairment

(2010) Anna Gomez et al.   ACTA NEUROPATHOLOGICA

Glucocerebrosidase is present in α-synuclein inclusions in Lewy body disorders

(2010) Ozlem Goker-Alpan et al.   ACTA NEUROPATHOLOGICA

Predictors of Parkin Mutations in Early-Onset Parkinson Disease

(2010) Karen S. Marder et al.   ARCHIVES OF NEUROLOGY

Recessively Inherited Parkinsonism

(2010) Norbert Brüggemann et al.   ARCHIVES OF NEUROLOGY

PINK1-linked parkinsonism is associated with Lewy body pathology

(2010) Lluís Samaranch et al.   BRAIN

Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease

(2010) Suzanne Lesage et al.   HUMAN MOLECULAR GENETICS

Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations

(2010) Coro Paisán-Ruiz et al.   MOVEMENT DISORDERS

Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations

(2010) Maria I. Behrens et al.   MOVEMENT DISORDERS

ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation

(2010) Susanne A. Schneider et al.   MOVEMENT DISORDERS

Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations

(2010) Coro Paisán-Ruiz et al.   NEUROBIOLOGY OF AGING

Leucine-Rich Repeat Kinase 2 Gene-Associated Disease: Redefining Genotype-Phenotype Correlation

(2010) Christian Wider et al.   Neurodegenerative Diseases

Glucocerebrosidase mutations in diffuse Lewy body disease

(2010) Kenya Nishioka et al.   PARKINSONISM & RELATED DISORDERS

Association of Glucocerebrosidase Mutations With Dementia With Lewy Bodies

(2009) Lorraine N. Clark et al.   ARCHIVES OF NEUROLOGY

Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease

(2009) Juliane Neumann et al.   BRAIN

Neuropathological assessment of Parkinson's disease: refining the diagnostic criteria

(2009) Dennis W Dickson et al.   LANCET NEUROLOGY

Complicated recessive dystonia parkinsonism syndromes

(2009) Susanne A. Schneider et al.   MOVEMENT DISORDERS

Neuropathology of Parkinson's disease with the R1441G mutation inLRRK2

(2009) José-Félix Martí-Massó et al.   MOVEMENT DISORDERS

GLUCOCEREBROSIDASE MUTATIONS IN 108 NEUROPATHOLOGICALLY CONFIRMED CASES OF MULTIPLE SYSTEM ATROPHY

(2009) B. Segarane et al.   NEUROLOGY

Mutations in the Parkinson's disease genes, Leucine Rich Repeat Kinase 2 (LRRK2) and Glucocerebrosidase (GBA), are not associated with essential tremor

(2009) Lorraine N. Clark et al.   PARKINSONISM & RELATED DISORDERS

Clinical, neuropathological and genotypic variability in SNCA A53T familial Parkinson’s disease

(2008) K. Markopoulou et al.   ACTA NEUROPATHOLOGICA

Genome-wide Linkage Analysis of a Parkinsonian-Pyramidal Syndrome Pedigree by 500 K SNP Arrays

(2008) Seyedmehdi Shojaee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Characterization of PLA2G6 as a locus for dystonia-parkinsonism

(2008) Coro Paisan-Ruiz et al.   ANNALS OF NEUROLOGY

Patients Homozygous and Heterozygous for SNCA Duplication in a Family With Parkinsonism and Dementia

(2008) Takeshi Ikeuchi et al.   ARCHIVES OF NEUROLOGY

Glucocerebrosidase Gene Mutations

(2008) Ignacio F. Mata et al.   ARCHIVES OF NEUROLOGY

Intralaminar nuclei of the thalamus in Lewy body diseases

(2008) Daniel Brooks et al.   BRAIN RESEARCH BULLETIN

Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)

(2008) Kathleen S. Hruska et al.   HUMAN MUTATION

Screening for the LRRK2 G2019S and codon-1441 mutations in a pathological series of parkinsonian syndromes and frontotemporal lobar degeneration

(2008) Carles Gaig et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study

(2008) Daniel G Healy et al.   LANCET NEUROLOGY

Clinical and pathological characteristics of patients with Leucine-rich repeat kinase-2 mutations

(2008) Jason P. Covy et al.   MOVEMENT DISORDERS

CLINICOPATHOLOGIC STUDY OF A SNCA GENE DUPLICATION PATIENT WITH PARKINSON DISEASE AND DEMENTIA

(2008) T. Obi et al.   NEUROLOGY

Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset

(2008) W. C. Nichols et al.   NEUROLOGY

Hyposmia in G2019S LRRK2-related parkinsonism: Clinical and pathologic data

(2008) L. Silveira-Moriyama et al.   NEUROLOGY

Neurodegeneration associated with genetic defects in phospholipase A2

(2008) A. Gregory et al.   NEUROLOGY

Alpha-synuclein pathology and Parkinsonism associated withPOLG1mutations and multiple mitochondrial DNA deletions

(2008)   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Glucosidase-beta variations and Lewy body disorders

(2008) Matthew J. Farrer et al.   PARKINSONISM & RELATED DISORDERS

Familial parkinsonism: Study of original Sagamihara PARK8 (I2020T) kindred with variable clinicopathologic outcomes

(2008) Kazuko Hasegawa et al.   PARKINSONISM & RELATED DISORDERS

Involvement of spinal motor neurons in parkin-positive autosomal recessive juvenile parkinsonism

(2007) Shoichi Sasaki et al.   NEUROPATHOLOGY