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