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.
Impaired vibratory sensation
Abnormality of the bladder
Wheelchair
Lower limb muscle weakness
Babinski sign
Spastic gait
Inability to walk
Impaired proprioception
Pes cavus
-Pure or uncomplicated
Show more (+7)
n.a.
p.Arg581*: het
No
C
ITA
25
45
n.a.
Spastic gait
Impaired vibratory sensation
Babinski sign
Hyporeflexia of upper limbs
-Pure or uncomplicated
Pes cavus
Abnormality of the bladder
Impaired proprioception
Lower limb muscle weakness
Show more (+6)
n.a.
p.Arg581*: het
No
C
ITA
25
72
n.a.
Inability to walk
Impaired proprioception
Pes cavus
Impaired vibratory sensation
Lower limb muscle weakness
Abnormality of the bladder
Spastic gait
Babinski sign
-Pure or uncomplicated
Wheelchair
Show more (+7)
n.a.
p.Arg581*: het
No
C
ITA
30
67
n.a.
Impaired vibratory sensation
-Pure or uncomplicated
Lower limb muscle weakness
Impaired proprioception
Babinski sign
Spastic gait
Abnormality of the bladder
Hyporeflexia of upper limbs
Pes cavus
Show more (+6)
n.a.
p.Arg581*: het
No
C
ITA
30
55
n.a.
Spastic gait
Lower limb muscle weakness
-Pure or uncomplicated
Abnormality of the bladder
Babinski sign
Show more (+2)
n.a.
p.Arg581*: het
Yes
C
ITA
25
33
n.a.
Pes cavus
Hyporeflexia of upper limbs
Lower limb muscle weakness
Babinski sign
Spastic gait
Impaired vibratory sensation
Impaired proprioception
-Pure or uncomplicated
Show more (+5)
n.a.
p.Arg581*: het
No
C
ITA
30
72
n.a.
Hyporeflexia of upper limbs
Abnormality of the bladder
Impaired vibratory sensation
Babinski sign
Impaired proprioception
Spastic gait
Wheelchair
Inability to walk
-Pure or uncomplicated
Pes cavus
Lower limb muscle weakness
Show more (+8)
n.a.
p.Arg581*: het
No
C
ITA
30
70
n.a.
Inability to walk
Spastic gait
-Pure or uncomplicated
Impaired proprioception
Babinski sign
Pes cavus
Abnormality of the bladder
Lower limb muscle weakness
Wheelchair
Impaired vibratory sensation
Show more (+7)
n.a.
p.Arg581*: het