BioMed Research International

Review Article

Mutations in the ATP13A2 Gene and Parkinsonism: A Preliminary Review

Table 2

Clinical features of patients with Parkinson’s disease and mutations in the ATP13A2 gene.
Ref.Internal codeMutationCountry of originAO (years)GFHISMSMCSUPDYSCDHBSResponse to levodopaImaging findings
[26] V441632_1653dup22 (552LeufsX788)Jordan12M+B, MR, RB, R, PI++−++++Diffuse atrophy (MRI)
V48Jordan15M+B, RB, R, PI+++++++Diffuse atrophy (MRI)
V49Jordan13M+MR, RB, R, PI+−+++++Diffuse atrophy (MRI)
V53Jordan12F+BB, R, PI+−+++++NR
[1] II-8c.3057delC (p.1019GfsX1021)
c.1306+5G>A (p.G399_L435del) 		Chile18M+BR, FT, B, R++NR+++Never triedEnlarged sulci (CT)
II-9Chile17M+BR, B, RT, B, R, PI+−NR++−−Mild, diffuse atrophy; caudate hypointensity (MRI)
II-10Chile15F+B, F, BRT, B, R, PI++NR+−+−NR
II-11Chile12M+F, BRT, B, R, PI++NR+++−Diffuse atrophy (CT)
[11] BR-3042c.1510G>C (Gly504Arg) Brazil12M−BB, R, PI++NR++++Diffuse atrophy (CT)
VE29c.35C>T (Thr12Met)Italy30M+NAT, B, R, PINR++−−++NR
PK-69-1c.1597C>A (Gly533Arg)Italy40M+NAB, R, PINR++−+++NR
[18] L-1349c.746C>T (Ala249Val)Germany31F−TT, B, R, PINR+−NR+−+Normal (MRI)
L-1928c.844A>T (Ser282Cys)Norway20M−PIR, PINR+−NR−++Normal (MRI)
L-324c.1346G>A (Arg449Gln)Iran36M−TB, R, PINR+−NR+++Cerebral atrophy (CT)
P-55c.2939G>A (Arg980His)Serbia35F−PTT, B, R, PINR+−NR+++Normal
[20]NRc.1103_1104insGA (p.Thr367fsX29) Pakistan16M−B, MRB, R, PI−++++++Diffuse atrophy (MRI)
[22]II-3 c.2742_2743delTT (p.F851CfsX856)Afghanistan10M−B, MRB, R, PI++++−++Diffuse atrophy, bilateral hypointensity in putamina and caudate nuclei (MRI)
[21]NRc.1108_1120del13 (p.Arg370fsX390)Lithuania6M−Dysarthria, DYST, B, R, PINR−+−NR−+Normal (MRI)
[23] VI-1c.2473C>AA, (p.Leu825AsnfsX32)Greenland27F+FANRNRNRNR+++NRDiffuse atrophy (MRI)
VI-6Greenland24M+WeaknessNRNRNR++++NRDiffuse atrophy (MRI)
V-1Greenland12M+TB, R++++++NRNormal (MRI)
V-3Greenland10F+CDT, B, R−−−−+−NRNR
V-5Greenland29F+GDPI++−+−+NRDiffuse atrophy (MRI)
V-9Greenland15F+B, MRT, B, R+NRNR+−NRNRNR
[19] X4015c.2762C>T (p.Gln858*)Iran 14F+Motor defect T, B, R, PINR+++−++Diffuse atrophy (MRI)
X4041Iran 10M+BT, B, R, PINR+++−++Diffuse atrophy (MRI)
R1042Iran 30M+NRT, B, R, PINRNRNRNRNRNR+NR
[24]NAPO6c.2629G>A (Gly877Arg) Italy10M−GDB, R, PI++++−++Diffuse atrophy (MRI)
[12]Ac.546C>A (Phe182Leu)Japan22F−GDT, B, R, PI+++++++Diffuse atrophy (MRI)
[14] F37c.2236G>A (Ala746Thr)China53F−NAT, B, R−−+−NR++Normal (MRI)
EK1China50M−NAT, B, R, PI−−+−NR++Normal (MRI)
Y56China39M−NAT, B, R, PI−−+−NR++Normal (MRI)
[15] H1288c.3274A>G (p.Gly1014Ser)China48F−NAT, B, R, PINRNRNRNRNRNR+Normal (MRI)
H496c.2236G>A (Ala746Thr)China49M−NAT, B, R, PINRNRNRNRNRNR+NR
H2120c.2236G>A (Ala746Thr)China51F−NAT, B, R, PINRNRNRNRNRNR+NR
[16] NRc.3176C>G (Leu1059Arg),
c.3253delC (L1085wfsX1088)		China17M+AB, R+++NR−++Normal (MRI)
NRChina17F+A, DB, R+++NR−++Normal (MRI)
A: anxiety; AO: age of onset; B: bradykinesia; BS: Babinski sign; CD: cognitive dysfunction; D: depression; DYS: dystonia; F: female; FA: fatigue; FH: family history; G: gender; GD: gait disturbance; IS: initial symptom; M: male; MC: myoclonus; MS: motor symptom; NR: not reported; PI: postural instability; PT: postural tremor; R: rigidity; SUP: supranuclear upgaze palsy; T: tremor.