Table 1.
Clinical and genotype data from affected and unaffected members of the Parkinson’s family
FAMILY MEMBER | AGE AT DIAGNOSIS | YEARS OF EVOLUTION | RT | MF | D | PS | CI | NI | GENETIC FINDINGS |
---|---|---|---|---|---|---|---|---|---|
II.6 (†) | 57 | 29 | Yes | Yes | Yes | Yes& | Mild dementia |
DaTSCANΩ MRI: normal |
LRRK2: p.[Leu119Pro; p.Leu488Pro] GBA1: del exon4-exon 11 |
II.3 (†) | 73 | 14 | Yes | No | No | – | Dementia | – | * |
II.7 | NA | NA | No | No | No | No | NA | – | None |
II.8 | 75 | 11 | Yes | No | No | No | No | DaTSCANΩ | LRRK2: p.[Leu119Pro; p.Leu488Pro] |
III.4 | 57 | 7 | Yes | Yes | Yes | Yes | Mild Cognitive Impairment |
DaTSCANΩ MRIΩ |
LRRK2: p.[Leu119Pro; p.Leu488Pro] GBA1: del exon4-exon 11 |
III.1 | NA | NA | No | No | No | No | NA | – | None |
III.6 | NA | NA | No | No | No | No | NA | – | GBA1: del exon4-exon 11 |
III.9 | NA | NA | No | No | No | No | NA | – |
LRRK2: p.[Leu119Pro; p.Leu488Pro] GBA1: del exon4-exon 11 |
III.10 | NA | NA | No | No | No | No | NA | – |
LRRK2: p.[Leu119Pro; p.Leu488Pro] GBA1: del exon4-exon 11 |
NA not applicable, RT resting tremor, MF motor fluctuation, D Dyskinesias, PS psychotic symptoms, NI neuroimaging studies, DaTScan single photon emission computed tomography with Ioflupane I123 injection, DaTScanΩ showed a decrease in the uptake of the radiotracer in the putamen, MRI magnetic resonance imaging, MRIΩ small hyperintense lesions in white matter
&After pharmacological treatment CI cognitive impairment
*Obligatory carrier of LRRK2: p.[Leu.119Pro; p.Leu488Pro] and GBA: del exon4-exon 11