McDermott, 2006: Overview of all reported HSP-SPAST patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
No
|
Babinski sign
Spasticity, lower limb |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
2
|
20
|
No
|
Babinski sign
Spasticity, lower limb |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
6
|
32
|
No
|
Spasticity, lower limb
Abnormality of the bladder Hyperreflexia in upper limbs Babinski sign Show more (+1) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
58
|
63
|
No
|
Lower limb muscle weakness
Spasticity, upper limb Spasticity, lower limb Hyperreflexia in upper limbs Babinski sign Show more (+2) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
39
|
60
|
No
|
Spasticity, lower limb
Peripheral neuropathy on nerve conduction studies Babinski sign Hyperreflexia in upper limbs Walking aids Show more (+2) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
30
|
34
|
No
|
Hyperreflexia in upper limbs
Babinski sign Wheelchair Spasticity, lower limb Pes cavus Show more (+2) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
45
|
45
|
No
|
Walking aids
|
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
60
|
79
|
No
|
Lower limb muscle weakness
Babinski sign Spasticity, lower limb |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
44
|
46
|
No
|
Spasticity, lower limb
Hyperreflexia in upper limbs Lower limb muscle weakness Spasticity, upper limb Babinski sign Show more (+2) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
52
|
63
|
No
|
Lower limb muscle weakness
Spasticity, lower limb Walking aids |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
38
|
40
|
No
|
Spasticity, lower limb
Babinski sign |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
35
|
38
|
No
|
Muscle weakness, upper limb
Spasticity, upper limb Hyperreflexia in upper limbs Spasticity, lower limb Show more (+1) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
No
|
Spasticity, upper limb
Abnormality of the bladder Pes cavus Hyperreflexia in upper limbs Babinski sign Show more (+2) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
30
|
58
|
No
|
-Lower limb amyotrophy
Wheelchair Abnormality of the bladder Babinski sign Impaired pain sensation Spasticity, lower limb Hyperreflexia in upper limbs Lower limb muscle weakness Show more (+5) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
21
|
47
|
No
|
Walking aids
Spasticity, lower limb Spasticity, upper limb Babinski sign Hyperreflexia in upper limbs Show more (+2) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
8
|
69
|
No
|
Spasticity, lower limb
Lower limb muscle weakness |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
37
|
51
|
No
|
n.a.
|
||
Yes
|
n.a.
|
n.a.
|
n.a.
|
3
|
34
|
No
|
Babinski sign
Spasticity, lower limb Lower limb muscle weakness -Lower limb amyotrophy Abnormality of the bladder Dysarthria Hyperreflexia in upper limbs Show more (+4) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
28
|
41
|
No
|
n.a.
|
||
Yes
|
n.a.
|
n.a.
|
n.a.
|
40
|
65
|
No
|
Hyperreflexia in upper limbs
Spasticity, lower limb Babinski sign Spasticity, upper limb Lower limb muscle weakness Show more (+2) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
32
|
52
|
No
|
Babinski sign
Spasticity, lower limb Walking aids Abnormality of the bladder Hyperreflexia in upper limbs Show more (+2) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
61
|
70
|
No
|
Spasticity, lower limb
Babinski sign Walking aids Peripheral neuropathy on nerve conduction studies Show more (+1) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
35
|
57
|
No
|
Hyperreflexia in upper limbs
Walking aids Pes cavus Babinski sign -Lower limb amyotrophy Lower limb muscle weakness Spasticity, lower limb Abnormality of the bladder Spasticity, upper limb Show more (+6) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
12
|
34
|
No
|
Spasticity, lower limb
Hyperreflexia in upper limbs Muscle weakness, upper limb Walking aids Show more (+1) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
65
|
70
|
No
|
n.a.
|
||
No
|
n.a.
|
n.a.
|
n.a.
|
45
|
69
|
No
|
Pes cavus
Babinski sign Spasticity, lower limb |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
45
|
63
|
No
|
Babinski sign
Hyperreflexia in upper limbs Spasticity, lower limb Lower limb muscle weakness Show more (+1) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
10
|
22
|
No
|
Lower limb muscle weakness
Babinski sign Hyperreflexia in upper limbs Spasticity, lower limb Seizures Show more (+2) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
30
|
35
|
No
|
Hyperreflexia in upper limbs
Spasticity, lower limb |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
12
|
47
|
No
|
Abnormality of the bladder
Babinski sign Spasticity, lower limb Spasticity, upper limb Show more (+1) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
38
|
44
|
No
|
Walking aids
Hyperreflexia in upper limbs Babinski sign |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
47
|
53
|
No
|
Spasticity, lower limb
Spasticity, upper limb Babinski sign Hyperreflexia in upper limbs Show more (+1) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
40
|
61
|
No
|
Lower limb muscle weakness
Babinski sign Abnormality of the bladder Spasticity, lower limb Show more (+1) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
38
|
42
|
No
|
Spasticity, upper limb
Lower limb muscle weakness Babinski sign Hyperreflexia in upper limbs Seizures Muscle weakness, upper limb Spasticity, lower limb Show more (+4) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
2
|
31
|
No
|
Spasticity, lower limb
Spasticity, upper limb Lower limb muscle weakness Wheelchair Babinski sign Show more (+2) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
35
|
37
|
No
|
Pes cavus
Spasticity, upper limb Hyperreflexia in upper limbs Babinski sign Spasticity, lower limb Abnormality of the bladder Lower limb muscle weakness Show more (+4) |
n.a.
|
|
No
|
n.a.
|
n.a.
|
n.a.
|
32
|
33
|
No
|
Pes cavus
Spasticity, lower limb |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
39
|
41
|
No
|
Hyperreflexia in upper limbs
Babinski sign Mri brain other abnormalities Spasticity, lower limb Show more (+1) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
38
|
39
|
No
|
Spasticity, lower limb
|
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
30
|
39
|
No
|
Hyperreflexia in upper limbs
Babinski sign Spasticity, upper limb Spasticity, lower limb Show more (+1) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
40
|
59
|
No
|
Spasticity, lower limb
Lower limb muscle weakness Babinski sign |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
64
|
67
|
No
|
Walking aids
Lower limb muscle weakness Peripheral neuropathy on nerve conduction studies Dysarthria Spasticity, lower limb Babinski sign Show more (+3) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
61
|
62
|
No
|
Babinski sign
Hyperreflexia in upper limbs |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
21
|
40
|
No
|
Abnormality of the bladder
Lower limb muscle weakness Spasticity, upper limb Hyperreflexia in upper limbs Spasticity, lower limb Babinski sign Wheelchair Abnormality of the skeletal system Show more (+5) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
45
|
55
|
No
|
Hyperreflexia in upper limbs
|
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
2
|
57
|
No
|
Spasticity, lower limb
Lower limb muscle weakness -Lower limb amyotrophy Hyperreflexia in upper limbs Babinski sign Abnormality of the bladder Pes cavus Show more (+4) |
n.a.
|
|
No
|
n.a.
|
n.a.
|
n.a.
|
38
|
67
|
No
|
n.a.
|
||
Yes
|
n.a.
|
n.a.
|
n.a.
|
35
|
64
|
No
|
Spasticity, lower limb
Pes cavus |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
53
|
57
|
No
|
Lower limb muscle weakness
Walking aids Spasticity, upper limb Spasticity, lower limb Hyperreflexia in upper limbs Babinski sign Show more (+3) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
34
|
39
|
No
|
Spasticity, lower limb
Spasticity, upper limb Hyperreflexia in upper limbs |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
43
|
53
|
No
|
Spasticity, lower limb
Lower limb muscle weakness Hyperreflexia in upper limbs Babinski sign Walking aids Show more (+2) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
16
|
70
|
No
|
Walking aids
Lower limb muscle weakness Spasticity, lower limb |
n.a.
|