The pallidopyramidal syndromes: nosology, aetiology and pathogenesis

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The pallidopyramidal syndromes: nosology, aetiology and pathogenesis is …
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scholarly articleQ13442814

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P356DOI10.1097/WCO.0B013E3283632E83
P932PMC publication ID4196641
P698PubMed publication ID23817214

P50authorJohn Anthony HardyQ6237755
P2093author name stringHenry Houlden
Eleanna Kara
P2860cites workalpha-synuclein degradation by autophagic pathways: a potential key to Parkinson's disease pathogenesis.Q67208294
Parkin-positive autosomal recessive juvenile Parkinsonism with alpha-synuclein-positive inclusionsQ80485457
PINK1 and Parkin Flag Miro to Direct Mitochondrial TrafficQ82480761
R632W mutation in PLA2G6 segregates with dystonia-parkinsonism in a consanguineous Iranian familyQ82990460
PINK1/Parkin direct mitochondria to autophagyQ83120705
Mitochondrial diseasesQ83827338
Glucocerebrosidase mutations do not cause increased Lewy body pathology in Parkinson's diseaseQ84214782
PINK1 points Parkin to mitochondriaQ84259115
Neuroaxonal Dystrophy in Calcium-Independent Phospholipase A2β Deficiency Results from Insufficient Remodeling and Degeneration of Mitochondrial and Presynaptic MembranesQ84670136
The age at motor symptoms onset in LRRK2-associated Parkinson's disease is affected by a variation in the MAPT locus: a possible interactionQ84903914
TFEB regulates lysosomal proteostasisQ86082443
Parkinson's disease-associated kinase PINK1 regulates Miro protein level and axonal transport of mitochondriaQ21563375
Tubulin Seeds α-Synuclein Fibril FormationQ24291881
Leucine-rich repeat kinase 2 regulates autophagy through a calcium-dependent pathway involving NAADPQ24293723
PINK1 and Parkin target Miro for phosphorylation and degradation to arrest mitochondrial motilityQ24296955
PINK1/Parkin-mediated mitophagy is dependent on VDAC1 and p62/SQSTM1Q24297155
The PINK1/Parkin-mediated mitophagy is compromised by PD-associated mutationsQ24297798
Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonismQ24301367
Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathiesQ24307627
RAB7L1 interacts with LRRK2 to modify intraneuronal protein sorting and Parkinson's disease riskQ24315688
Parkin is recruited selectively to impaired mitochondria and promotes their autophagyQ24317471
The atypical Rho GTPases Miro-1 and Miro-2 have essential roles in mitochondrial traffickingQ24319150
De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthoodQ24320029
Autophagosomes form at ER-mitochondria contact sitesQ24322618
Interplay of LRRK2 with chaperone-mediated autophagyQ24322747
A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson diseaseQ24633417
α-Synuclein propagates from mouse brain to grafted dopaminergic neurons and seeds aggregation in cultured human cellsQ24633663
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.Q24634577
Inclusion formation and neuronal cell death through neuron-to-neuron transmission of alpha-synucleinQ24655848
TDP-43 pathology in a patient carrying G2019S LRRK2 mutation and a novel p.Q124E MAPTQ26851112
Mutation in the alpha-synuclein gene identified in families with Parkinson's diseaseQ27860459
alpha-Synuclein locus triplication causes Parkinson's diseaseQ27860533
α-Synuclein in Lewy bodiesQ27860680
Alpha-synuclein is part of a diverse and highly conserved interaction network that includes PARK9 and manganese toxicityQ27934988
Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPaseQ28116395
Loss of β-Glucocerebrosidase Activity Does Not Affect Alpha-Synuclein Levels or Lysosomal Function in Neuronal CellsQ28118642
Staging of brain pathology related to sporadic Parkinson's diseaseQ28131702
Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathologyQ28131833
Mitochondria get a Parkin' ticketQ57269925
Clinical and neuropathologic features of progressive supranuclear palsy with severe pallido-nigro-luysial degeneration and axonal dystrophyQ57306350
Identification of VPS35 mutations replicated in French families with Parkinson diseaseQ59697029
An autopsy case of autosomal-recessive juvenile parkinsonism with a homozygous exon 4 deletion in the parkin gene.Q64768245
Mitochondrial dysfunction associated with increased oxidative stress and α-synuclein accumulation in PARK2 iPSC-derived neurons and postmortem brain tissueQ36539066
Disrupted membrane homeostasis and accumulation of ubiquitinated proteins in a mouse model of infantile neuroaxonal dystrophy caused by PLA2G6 mutationsQ36559669
Pathogenic mutation in VPS35 impairs its protection against MPP(+) cytotoxicityQ36609844
Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's diseaseQ36622356
New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.Q36659362
Genome-wide linkage analysis of a Parkinsonian-pyramidal syndrome pedigree by 500 K SNP arraysQ36719174
Screening for VPS35 mutations in Parkinson's diseaseQ36775809
Atp13a2-deficient mice exhibit neuronal ceroid lipofuscinosis, limited α-synuclein accumulation and age-dependent sensorimotor deficitsQ36787223
Dopaminergic expression of the Parkinsonian gene LRRK2-G2019S leads to non-autonomous visual neurodegeneration, accelerated by increased neural demands for energy.Q36839019
A novel α-synuclein missense mutation in Parkinson diseaseQ36841475
CSF1R mutations link POLD and HDLS as a single disease entityQ36841490
Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson diseaseQ36841500
The MAPT p.A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological featuresQ36852789
Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutationsQ36854793
Lewy Body-like α-Synuclein Aggregates Resist Degradation and Impair MacroautophagyQ36873680
α-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson's disease and multiple system atrophy?Q36925651
Pantothenate kinase-associated neurodegeneration is not a synucleinopathyQ37016212
Lysosomes in iron metabolism, ageing and apoptosisQ37079830
Cathepsin D expression level affects alpha-synuclein processing, aggregation, and toxicity in vivo.Q37102231
Emerging pathways in genetic Parkinson's disease: Potential role of ceramide metabolism in Lewy body diseaseQ37105393
Autosomal dominant dopa-responsive parkinsonism in a multigenerational Swiss familyQ37110628
Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia.Q37209217
Pink1 forms a multiprotein complex with Miro and Milton, linking Pink1 function to mitochondrial traffickingQ37219276
AF-6 is a positive modulator of the PINK1/parkin pathway and is deficient in Parkinson's disease.Q37243137
Emerging pathways in genetic Parkinson's disease: tangles, Lewy bodies and LRRK2.Q37330540
A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodiesQ37346468
Adult onset leukodystrophy with neuroaxonal spheroids: clinical, neuroimaging and neuropathologic observationsQ37375281
Lysosomal impairment in Parkinson's diseaseQ37461364
Mitophagy and Parkinson's disease: the PINK1-parkin link.Q37587126
Pallidopyramidal disease: a misnomer?Q37772452
Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutationsQ37776461
Rare causes of dystonia parkinsonismQ37778764
The Parkinson disease protein α-synuclein inhibits autophagyQ37820817
Hereditary diffuse leukoencephalopathy with spheroids: clinical, pathologic and genetic studies of a new kindredQ48624902
Prion-like acceleration of a synucleinopathy in a transgenic mouse modelQ48965892
Clinical and pathologic abnormalities in a family with parkinsonism and parkin gene mutationsQ48974297
Pallido-pyramidal disease.Q51345009
Involvement of spinal motor neurons in parkin-positive autosomal recessive juvenile parkinsonismQ51727066
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degenerationQ51896097
Progressive atrophy of the globus pallidus (primary atrophy of the pallidal system). A system disease of the paralysis agitans type, characterized by atrophy of the motor cells of the corpus striatum. A contribution to the function of the corpus strQ52097854
Axonal dystrophy in the gracile nucleus in children and young adults. Reappraisal of the incidence and associated diseases.Q54198367
Dangerous duet: LRRK2 and α-synuclein jam at CMAQ54441670
ATP13A2 mutations impair mitochondrial function in fibroblasts from patients with Kufor-Rakeb syndrome.Q54532651
A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers.Q54608818
THE METABOLISM OF GLUCOCEREBROSIDES. I. PURIFICATION AND PROPERTIES OF A GLUCOCEREBROSIDE-CLEAVING ENZYME FROM SPLEEN TISSUEQ55037613
Consensus guidelines for the clinical and pathologic diagnosis of dementia with Lewy bodies (DLB): report of the Consortium on DLB International Workshop.Q55042329
An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondriaQ28205616
A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndromeQ28210032
A block of autophagy in lysosomal storage disordersQ28252016
The diverse phenotype and genotype of pantothenate kinase-associated neurodegenerationQ28252508
Expression of normal sequence pathogenic proteins for neurodegenerative disease contributes to disease risk: 'permissive templating' as a general mechanism underlying neurodegenerationQ28263454
Lewy body-like pathology in long-term embryonic nigral transplants in Parkinson's diseaseQ28275257
The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson diseaseQ28287883
Interactions of the proteins of neuronal ceroid lipofuscinosis: clues to functionQ28289653
Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13Q28298493
FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndromeQ28302099
Genetics of Neurodegeneration with Brain Iron AccumulationQ28304487
Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse modelQ28505781
Development and Characterization of a New Parkinson's Disease Model Resulting from Impaired AutophagyQ28511536
Compartmentalization of mammalian pantothenate kinasesQ28593602
Impaired degradation of mutant alpha-synuclein by chaperone-mediated autophagyQ29614178
Landscape of the PARKIN-dependent ubiquitylome in response to mitochondrial depolarizationQ29615622
Lewy bodies in grafted neurons in subjects with Parkinson's disease suggest host-to-graft disease propagationQ29615640
The PINK1/Parkin pathway regulates mitochondrial morphologyQ29615641
Autophagy in human health and diseaseQ29620121
PINK1-dependent recruitment of Parkin to mitochondria in mitophagyQ29620567
Pathological α-Synuclein Transmission Initiates Parkinson-like Neurodegeneration in Nontransgenic MiceQ29620597
α-Synuclein mutations cluster around a putative protein loopQ30430404
Mitochondrial metabolism in Parkinson's disease impairs quality control autophagy by hampering microtubule-dependent trafficQ30525658
Parkin disease: a clinicopathologic entity?Q30594306
Neurodegeneration with brain iron accumulationQ31029813
Cathepsin D is the main lysosomal enzyme involved in the degradation of alpha-synuclein and generation of its carboxy-terminally truncated speciesQ33360061
Abberant alpha-synuclein confers toxicity to neurons in part through inhibition of chaperone-mediated autophagyQ33444800
Glucocerebrosidase gene mutations: a risk factor for Lewy body disordersQ33677320
Colonic biopsies to assess the neuropathology of Parkinson's disease and its relationship with symptomsQ33697904
Childhood disorders of neurodegeneration with brain iron accumulation (NBIA).Q33867989
A one base pair deletion in the canine ATP13A2 gene causes exon skipping and late-onset neuronal ceroid lipofuscinosis in the Tibetan terrierQ34055332
Two phosphatidylinositol 4-kinases control lysosomal delivery of the Gaucher disease enzyme, β-glucocerebrosidase.Q34254743
Role of alpha-synuclein protein levels in mitochondrial morphology and cell survival in cell linesQ34257471
Direct observation of the interconversion of normal and toxic forms of α-synucleinQ34277399
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.Q34313397
Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease.Q34330786
A Tangled Web – Tau and Sporadic Parkinson's DiseaseQ37855547
Lysosomal storage disorders and Parkinson's disease: Gaucher disease and beyondQ37880734
Neuropathology underlying clinical variability in patients with synucleinopathiesQ37896515
Pathological roles of α-synuclein in neurological disordersQ37947720
Syndromes of neurodegeneration with brain iron accumulation (NBIA): an update on clinical presentations, histological and genetic underpinnings, and treatment considerationsQ37949887
α-Synuclein in Parkinson's diseaseQ37987146
The neuropathology of genetic Parkinson's diseaseQ37997386
The Lewy Body in Parkinson’s Disease and Related Neurodegenerative DisordersQ38012653
αSynuclein and Mitochondrial Dysfunction: A Pathogenic Partnership in Parkinson’s Disease?Q38022031
Lysosome-dependent pathways as a unifying theme in Parkinson's disease.Q38038561
Exosomes-associated neurodegeneration and progression of Parkinson's diseaseQ38079242
The VPS35 gene and Parkinson's diseaseQ38093808
Autosomal recessive parkinsonism linked to parkin gene in a Tunisian family. Clinical, genetic and pathological studyQ39030130
Alpha‐synuclein impairs normal dynamics of mitochondria in cell and animal models of Parkinson’s diseaseQ39358210
α-Synuclein controls mitochondrial calcium homeostasis by enhancing endoplasmic reticulum-mitochondria interactions.Q39372978
Lysosomal dysfunction increases exosome-mediated alpha-synuclein release and transmission.Q39595928
Molecular interaction of α-synuclein with tubulin influences on the polymerization of microtubule in vitro and structure of microtubule in cellsQ39787734
Lysosomal enzyme cathepsin D protects against alpha-synuclein aggregation and toxicityQ39914071
The formation of highly soluble oligomers of alpha-synuclein is regulated by fatty acids and enhanced in Parkinson's diseaseQ40669171
Mitochondria drive autophagy pathology via microtubule disassembly: a new hypothesis for Parkinson diseaseQ41842350
Miro1 is a calcium sensor for glutamate receptor-dependent localization of mitochondria at synapses.Q41859552
Relationship of neighboring tissue and gliosis to α-synuclein pathology in a fetal transplant for Parkinson's diseaseQ42002660
Mutant A53T α-Synuclein Induces Neuronal Death by Increasing Mitochondrial AutophagyQ42089641
Hereditary diffuse leukoencephalopathy with spheroids: ultrastructural and immunoelectron microscopic studiesQ42130117
Neuroferritinopathy: a window on the role of iron in neurodegeneration.Q42436187
Eye of the tiger-like MRI in parkinsonian variant of multiple system atrophyQ42455961
Clinical heterogeneity of ATP13A2 linked disease (Kufor-Rakeb) justifies a PARK designationQ42512292
Lewy body pathology in a patient with a homozygous parkin deletionQ42520606
Mitochondrial impairment in patients with Parkinson disease with the G2019S mutation in LRRK2.Q42790455
ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulationQ43121326
PINK1 and Parkin complementarily protect dopaminergic neurons in vertebratesQ44309628
Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?Q44479792
Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase geneQ44601366
Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriersQ45039594
Iron accumulation in syndromes of neurodegeneration with brain iron accumulation 1 and 2: causative or consequential?Q46160795
Novel ATP13A2 variant associated with Parkinson disease in Taiwan and SingaporeQ46241226
Parallel PARKing: Parkinson’s Genes Function in Common PathwayQ46840594
Neuropathology provides clues to the pathophysiology of Gaucher diseaseQ47247270
First video report of static encephalopathy of childhood with neurodegeneration in adulthoodQ48172818
PINK1-linked parkinsonism is associated with Lewy body pathologyQ48252842
100 years of Lewy pathologyQ48278741
PLA2G6 mutations and Parkinson's diseaseQ48291991
Neurodegeneration in Parkinson disease: moving Lewy bodies out of focusQ48295348
Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutationQ48349192
MRI, MR spectroscopy, and diffusion tensor imaging findings in patient with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA)Q48409469
The spread of neurodegenerative diseaseQ48488957
Autosomal dominant adult neuronal ceroid lipofuscinosis: parkinsonism due to both striatal and nigral dysfunctionQ48552779
Relationship between mitochondria and α-synuclein: a study of single substantia nigra neuronsQ48618580
G51D α‐synuclein mutation causes a novel Parkinsonian–pyramidal syndromeQ34335126
Demonstration of a role for alpha-synuclein as a functional microtubule-associated proteinQ34345614
Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R geneQ34376041
The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's diseaseQ34398442
Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental studyQ34408564
Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndromeQ34530192
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain ironQ34568479
Characterization of PLA2G6 as a locus for dystonia-parkinsonismQ34593410
ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson diseaseQ34626200
Deficiency of ATP13A2 leads to lysosomal dysfunction, α-synuclein accumulation, and neurotoxicityQ34636872
PINK1 autophosphorylation upon membrane potential dissipation is essential for Parkin recruitment to damaged mitochondriaQ34641661
Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndromeQ34726815
Gaucher disease and the synucleinopathiesQ34795306
Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegenerationQ35018106
VPS35 mutations in Parkinson diseaseQ35103751
α-Synuclein Interacts with Glucocerebrosidase Providing a Molecular Link between Parkinson and Gaucher DiseasesQ35150090
Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulationQ35286584
Neuroferritinopathy in a French family with late onset dominant dystoniaQ35442453
Parkinsonism among Gaucher disease carriersQ35444509
Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroidsQ35705431
Transmission of Synucleinopathies in the Enteric Nervous System of A53T Alpha-Synuclein Transgenic MiceQ35707907
Prion-like spread of protein aggregates in neurodegenerationQ35946138
Intracerebral inoculation of pathological α-synuclein initiates a rapidly progressive neurodegenerative α-synucleinopathy in miceQ35946149
The Use of Next-Generation Sequencing in Movement DisordersQ35955394
Glucocerebrosidase is present in α-synuclein inclusions in Lewy body disordersQ35960413
Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosisQ35997567
Loss of P-type ATPase ATP13A2/PARK9 function induces general lysosomal deficiency and leads to Parkinson disease neurodegeneration.Q36066469
Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseasesQ36083108
A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variantsQ36370223
Parkin and mitofusins reciprocally regulate mitophagy and mitochondrial spheroid formationQ36452057
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P433issue4
P407language of work or nameEnglishQ1860
P921main subjectblepharospasmQ883863
parkinsonian syndromeQ1531991
P5008on focus list of Wikimedia projectScienceSourceQ55439927
P304page(s)381-394
P577publication date2013-08-01
P13046publication type of scholarly workreview articleQ7318358
P1433published inCurrent Opinion in NeurologyQ15716647
P1476titleThe pallidopyramidal syndromes: nosology, aetiology and pathogenesis
P478volume26

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cites work (P2860)
Q36093991A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging.
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Q88779837Genetics of Movement Disorders and the Practicing Clinician; Who and What to Test for?
Q47309944Multiple system atrophy: genetic risks and alpha-synuclein mutations.
Q87030479Neurodegeneration with Brain Iron Accumulation

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