Farrer, 2009: Overview of all reported PARK-DCTN1 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
n.a.
|
USA
|
54
|
n.a.
|
n.a.
|
Hypoventilation respiratory complications
Decreased body weight Respiratory sighs Parkinsonism Bradykinesia Show more (+2) |
n.a.
|
|
No
|
n.a.
|
n.a.
|
CAN
|
47
|
48
|
n.a.
|
Decreased body weight
Parkinsonism Respiratory sighs Depression Bradykinesia Rigidity Hypoventilation respiratory complications Atypical parkinsonism Asymmetric onset Sleep disorder Show more (+7) |
Depression
Bradykinesia Sleep disorder |
|
Yes
|
♂
|
n.a.
|
JPN
|
52
|
n.a.
|
n.a.
|
Decreased body weight
Respiratory sighs Parkinsonism Hypoventilation respiratory complications Bradykinesia Show more (+2) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
JPN
|
47
|
n.a.
|
n.a.
|
Respiratory sighs
Bradykinesia Parkinsonism |
n.a.
|
|
No
|
♀
|
n.a.
|
FRA
|
47
|
n.a.
|
n.a.
|
Parkinsonism
Decreased body weight Bradykinesia Hypoventilation respiratory complications Respiratory sighs Show more (+2) |
n.a.
|
|
No
|
♂
|
n.a.
|
CAN
|
50
|
n.a.
|
n.a.
|
Decreased body weight
Bradykinesia Hypoventilation respiratory complications Respiratory sighs Parkinsonism Atypical parkinsonism Show more (+3) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
JPN
|
61
|
n.a.
|
n.a.
|
Parkinsonism
Tremor (any or unspecified) Respiratory sighs Tremor at rest Rigidity Postural instability Bradykinesia Gait difficulties/falls Autonomic sign/sympt. Atypical parkinsonism Hypoventilation respiratory complications Decreased body weight Hypomimia Show more (+10) |
Tremor (any or unspecified)
|
|
No
|
♂
|
n.a.
|
JPN
|
49
|
n.a.
|
n.a.
|
Hypoventilation respiratory complications
Parkinsonism Respiratory sighs Decreased body weight Bradykinesia Show more (+2) |
n.a.
|
|
No
|
♂
|
n.a.
|
JPN
|
43
|
n.a.
|
n.a.
|
Decreased body weight
Hypoventilation respiratory complications Parkinsonism Bradykinesia Respiratory sighs Show more (+2) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
CAN
|
53
|
n.a.
|
n.a.
|
Bradykinesia
Respiratory sighs Decreased body weight Hypoventilation respiratory complications Parkinsonism Atypical parkinsonism Show more (+3) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
USA
|
41
|
42
|
n.a.
|
Postural instability
Rigidity Hypomimia Apathy fatigue Tremor (any or unspecified) Behavioral abnormalities Bradykinesia Sleep disorder Atypical parkinsonism Parkinsonism Respiratory sighs Decreased body weight Hypoventilation respiratory complications Show more (+10) |
Apathy fatigue
Tremor (any or unspecified) Sleep disorder |
|
No
|
♂
|
n.a.
|
CAN
|
52
|
n.a.
|
n.a.
|
Parkinsonism
Atypical parkinsonism Respiratory sighs Bradykinesia Decreased body weight Hypoventilation respiratory complications Show more (+3) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
FRA
|
56
|
n.a.
|
n.a.
|
Bradykinesia
Parkinsonism Respiratory sighs Decreased body weight Hypoventilation respiratory complications Show more (+2) |
n.a.
|
|
No
|
♀
|
n.a.
|
JPN
|
47
|
n.a.
|
n.a.
|
Bradykinesia
Parkinsonism Respiratory sighs |
n.a.
|
|
Yes
|
♂
|
n.a.
|
TUR
|
46
|
50
|
n.a.
|
Tremor (any or unspecified)
Apathy fatigue Parkinsonism Dysarthria Hypoventilation respiratory complications Respiratory sighs Tremor at rest Atypical parkinsonism Depression Bradykinesia Decreased body weight Show more (+8) |
Apathy fatigue
Depression |
|
No
|
♀
|
n.a.
|
FRA
|
48
|
n.a.
|
n.a.
|
Decreased body weight
Parkinsonism Respiratory sighs Hypoventilation respiratory complications Bradykinesia Show more (+2) |
n.a.
|
|
No
|
♀
|
n.a.
|
TUR
|
51
|
53
|
n.a.
|
Hypomimia
Rigidity Sleep disorder Respiratory sighs Impulsive control disorder Atypical parkinsonism Decreased body weight Primitive reflexes Behavioral abnormalities Bradykinesia Apathy fatigue Hypoventilation respiratory complications Cognitive decline Psychotic sign/sympt. Parkinsonism Postural instability Show more (+13) |
Sleep disorder
Bradykinesia Apathy fatigue |
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
49
|
n.a.
|
No
|
Hypoventilation respiratory complications
Parkinsonism Bradykinesia Decreased body weight Respiratory sighs Show more (+2) |
n.a.
|
|
No
|
n.a.
|
n.a.
|
CAN
|
54
|
56
|
n.a.
|
Asymmetric onset
Decreased body weight Tremor at rest Depression Atypical parkinsonism Respiratory sighs Tremor (any or unspecified) Parkinsonism Hypoventilation respiratory complications Anxiety Bradykinesia Rigidity Show more (+9) |
Depression
Anxiety |
|
No
|
♂
|
n.a.
|
JPN
|
38
|
n.a.
|
n.a.
|
Respiratory sighs
Bradykinesia Hypoventilation respiratory complications Decreased body weight Parkinsonism Show more (+2) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
GBR
|
38
|
43
|
n.a.
|
Postural tremor
Tremor (any or unspecified) Depression Rigidity Intellectual developmental disorder Sleep benefit Dysarthria Saccadic abnormalities Gait difficulties/falls Parkinsonism Ataxia/Dysdiadochokinesia Bradykinesia Olfactory impairment Micrographia Asymmetric onset Tremor at rest Gaze palsy Cognitive decline Hypomimia Show more (+16) |
Tremor (any or unspecified)
Dysarthria Micrographia |
|
No
|
♂
|
n.a.
|
CAN
|
51
|
53
|
n.a.
|
Dysphagia
Hypomimia Tremor (any or unspecified) Sleep disorder Apathy fatigue Micrographia Dysarthria Respiratory sighs Postural tremor Bradykinesia Atypical parkinsonism Decreased body weight Hypoventilation respiratory complications Parkinsonism Show more (+11) |
Decreased body weight
|
|
No
|
♂
|
n.a.
|
JPN
|
61
|
n.a.
|
n.a.
|
Postural instability
Bradykinesia Atypical parkinsonism Incontinence Dysphagia Tremor (any or unspecified) Sleep disorder Parkinsonism Hypomimia Respiratory sighs Autonomic sign/sympt. Decreased body weight Hypoventilation respiratory complications Show more (+10) |
Decreased body weight
|