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