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

Acta Neuropathologica

Volumn 123, Issue 6, 2012, Pages 901-903

  Ruffmann, Claudio ^a   Zini, Michela ^a   Goldwurm, Stefano ^a   Bramerio, Manuela ^b   Spinello, Sonia ^c   Rusconi, Damiana ^d   Gambacorta, Marcello ^b   Tagliavini, Fabrizio ^c   Pezzoli, Gianni ^a   Giaccone, Giorgio ^c  

^a PARKINSON INSTITUTE   (Italy)

^b OSPEDALE NIGUARDA CA GRANDA   (Italy)

^c DEPARTMENT OF NEUROSURGERY   (Italy)

^d FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA SYNUCLEIN; LEVODOPA; PARK2 PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ADULT; BRAIN PERFUSION; CASE REPORT; CLINICAL FEATURE; EXON; GENE DELETION; GENE MUTATION; HETEROZYGOSITY; HUMAN; LETTER; LEWY BODY; MALE; NEUROIMAGING; NEUROPATHOLOGY; NEUROPSYCHOLOGICAL TEST; NUCLEAR MAGNETIC RESONANCE IMAGING; PARKINSON DISEASE; POINT MUTATION; PRIORITY JOURNAL; RIGIDITY; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY; SUBSTANTIA NIGRA; TREATMENT RESPONSE;

ADULT; AGED; AGED, 80 AND OVER; HETEROZYGOTE; HUMANS; LEWY BODIES; MALE; MIDDLE AGED; MUTATION; PARKINSON DISEASE; PEDIGREE; UBIQUITIN-PROTEIN LIGASES;

EID: 84866359459     PISSN: 00016322     EISSN: 14320533     Source Type: Journal    
DOI: 10.1007/s00401-012-0991-7     Document Type: Letter

References (6)

1. Alafuzoff I, Ince PG, Arzberger T et al (2009) Staging/typing of Lewy body related α-synuclein pathology: a study of the Brain Net Europe Consortium. Acta Neuropathol 117:635-652
2. Cookson MR, Lockhart PJ, McLendon C et al (2003) RING finger 1 mutations in Parkin produce altered localization of the protein. Hum Mol Genet 12:2957-2965
3. Farrer M, Chan P, Chen R et al (2001) Lewy bodies and Parkinsonism in families with Parkin mutations. Ann Neurol 50:293-300
4. Kay DM, Stevens CF, Hamza TH et al (2010) A comprehensive analysis of deletions, multiplications, and copy number variations in PARK2. Neurology 75:1189-1194
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6. Sironi F, Primignani P, Zini M et al (2008) Parkin analysis in early onset Parkinson's disease. Park Rel Dis 14:326-333