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. 2019 Jan 23;49(4):453–462. doi: 10.1111/ejn.14314

Table 1.

Lewy body presence or absence in PD patients with PARKIN mutations

Sex Age of onset Age of death PARKIN alleles Lewy bodies? Distribution of neuronal loss Notes References
F NA 67 PARK2 No Substantia nigra, locus coeruleus Japanese, Family 556 Takahashi et al. (1994)
PARK2
F 20 52 PARK2 No Substantia nigra Japanese, Family M, patient M‐2, no dementia Yamamura et al. (1998)
PARK2
M 24 62 Exon 4: deletion No Substantia nigra, locus coeruleus Japanese, neurofibrillary tangles present Mori et al. (1998)
Exon 4: deletion
M 32 70 Exon 4: deletion No Substantia nigra, locus coeruleus Japanese, patient III‐4, no evidence of dementia Hayashi et al. (2000)
Exon 4: deletion
M 18 75 Exon 3: deletion No Substantia nigra Dutch, patient II‐3, tau pathology van de Warrenburg et al. (2001)
Exon 6: Lys211Asn
M 34 47 Exon 2: 2‐bp deletion No Substantia nigra, locus coeruleus Tunisian, patient IV‐I Gouider‐Khouja et al. (2003)
Exon 2: 2‐bp deletion
F 36 86 Exon 6: deletion No Substantia nigra British, no evidence of dementia Doherty et al. (2013)
Exon 7: Arg275Trp
F 25 62 Exon 3: 40‐bp deletion No Substantia nigra British, no evidence of dementia Doherty et al. (2013)
Exon 7: Arg275Trp
M 32 68 Exon 3: 40‐bp deletion No Substantia nigra, locus coeruleus Irish, no evidence of dementia Doherty et al. (2013)
Exon 12: Gly430Asp
M 16 60 Intron 5: IVS5‐1G>A No Substantia nigra Peruvian, patient II‐2 Cornejo‐Olivas et al. (2015)
Exon 7: deletion
M 20 79 Exon 3–4: deletion No Substantia nigra Norwegian, no evidence of dementia Johansen, Torp, Farrer, Gustavsson, and Aasly (2018)
Exon 3–4: deletion
M 41 52 Exon 3: 40‐bp deletion Yes Substantia nigra, locus coeruleus North American, patient Pw3 Farrer et al. (2001)
Exon 7: Arg275Trp
F 33 70 Exon 3: deletion Yes Substantia nigra, locus coeruleus Japanese, young onset, LBs in pedunculopontine nucleus Sasaki et al. (2004)
Exon 3: deletion
M 49 73 Exon 7: deletion Yes Substantia nigra, locus coeruleus Italian, patient IV.33, late onset Pramstaller et al. (2005)
Exon 9: 1‐bp deletion
F 33 60 Exon 7: Arg275Trp Yes Substantia nigra, locus coeruleus Irish, young onset, sparse cortical LBs Doherty et al. (2013)
Exon 12: Gly430Asp
M 46 82 Exon 6: deletion Yes Substantia nigra, brain stem British, no evidence of dementia, brain stem LBs Doherty et al. (2013)
Exon 7: Arg275Trp
F 61 72 Exon 2–4: deletion Yes SN, LC, dorsal motor nucleus of the vagus, basal nucleus of Meynert Japanese, late onset, no orthostatic hypotension or dementia Miyakawa et al. (2013)
Exon 2–4: deletion

LBs: Lewy bodies; SN: substantia nigra; LC: locus coeruleus.