Aridon, 2007: Overview of all reported HSP-SPAST patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
C
ITA
20
43
n.a.
Lower limb muscle weakness
Wheelchair
Abnormality of the bladder
Impaired vibratory sensation
-Pure or uncomplicated
Spastic gait
Impaired proprioception
Babinski sign
Inability to walk
Pes cavus
Show more (+7)
n.a.
p.Arg581*: het
No
C
ITA
25
45
n.a.
Abnormality of the bladder
Spastic gait
Impaired vibratory sensation
-Pure or uncomplicated
Hyporeflexia of upper limbs
Impaired proprioception
Lower limb muscle weakness
Babinski sign
Pes cavus
Show more (+6)
n.a.
p.Arg581*: het
No
C
ITA
25
72
n.a.
Impaired vibratory sensation
Inability to walk
Impaired proprioception
Lower limb muscle weakness
Abnormality of the bladder
-Pure or uncomplicated
Pes cavus
Spastic gait
Wheelchair
Babinski sign
Show more (+7)
n.a.
p.Arg581*: het
No
C
ITA
30
67
n.a.
Babinski sign
Spastic gait
Pes cavus
Lower limb muscle weakness
Abnormality of the bladder
Impaired proprioception
-Pure or uncomplicated
Hyporeflexia of upper limbs
Impaired vibratory sensation
Show more (+6)
n.a.
p.Arg581*: het
No
C
ITA
30
55
n.a.
Spastic gait
-Pure or uncomplicated
Lower limb muscle weakness
Abnormality of the bladder
Babinski sign
Show more (+2)
n.a.
p.Arg581*: het
Yes
C
ITA
25
33
n.a.
Pes cavus
Lower limb muscle weakness
Babinski sign
Impaired vibratory sensation
Spastic gait
Impaired proprioception
-Pure or uncomplicated
Hyporeflexia of upper limbs
Show more (+5)
n.a.
p.Arg581*: het
No
C
ITA
30
72
n.a.
Pes cavus
Impaired proprioception
Spastic gait
Babinski sign
Abnormality of the bladder
Inability to walk
Lower limb muscle weakness
Hyporeflexia of upper limbs
Impaired vibratory sensation
Wheelchair
-Pure or uncomplicated
Show more (+8)
n.a.
p.Arg581*: het
No
C
ITA
30
70
n.a.
Abnormality of the bladder
Impaired vibratory sensation
Babinski sign
Impaired proprioception
Wheelchair
-Pure or uncomplicated
Spastic gait
Inability to walk
Pes cavus
Lower limb muscle weakness
Show more (+7)
n.a.
p.Arg581*: het