2017
Parkinson Sac Domain Mutation in Synaptojanin 1 Impairs Clathrin Uncoating at Synapses and Triggers Dystrophic Changes in Dopaminergic Axons
Cao M, Wu Y, Ashrafi G, McCartney AJ, Wheeler H, Bushong EA, Boassa D, Ellisman MH, Ryan TA, De Camilli P. Parkinson Sac Domain Mutation in Synaptojanin 1 Impairs Clathrin Uncoating at Synapses and Triggers Dystrophic Changes in Dopaminergic Axons. Neuron 2017, 93: 882-896.e5. PMID: 28231468, PMCID: PMC5340420, DOI: 10.1016/j.neuron.2017.01.019.Peer-Reviewed Original ResearchConceptsDopaminergic axonsEarly-onset parkinsonism patientsEndocytic dysfunctionNeurological manifestationsParkinsonism patientsDystrophic changesParkinson's diseaseDorsal striatumHuman patientsClathrin-coated intermediatesParkin levelsHomozygous mutationMutant brainsSynaptojanin 1Domain mutationsTerminal changesPatientsStriking accumulationAxonsDiseaseMiceSynapsesSynaptic vesicle endocytosisMutationsDysfunction
1991
Sudden death and paroxysmal autonomic dysfunction in stiff-man syndrome
Mitsumoto H, Schwartzman M, Estes M, Chou S, La Franchise E, De Camilli P, Solimena M. Sudden death and paroxysmal autonomic dysfunction in stiff-man syndrome. Journal Of Neurology 1991, 238: 91-96. PMID: 1649913, DOI: 10.1007/bf00315688.Peer-Reviewed Original ResearchConceptsStiff-man syndromeGABA-ergic neuronsAutonomic dysfunctionBrain stemSpinal cordCause of deathChronic inflammatory reactionPerivascular gliosisArterial hypertensionPerivascular infiltrationMuscle spasmNeuropathological studiesAutoimmune diseasesBasal gangliaFunctional impairmentUnexpected deathInflammatory reactionLymphocytic perivascular infiltrationSudden deathMuscular abnormalitiesCerebrospinal fluidPupillary dilationFrequent attacksDysfunctionNeurons