Table 1.
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.