Scuderi, 2009: Overview of all reported HSP-SPAST patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
n.a.
n.a.
n.a.
88
n.a.
Babinski sign
Impaired vibratory sensation
Spasticity, lower limb
Inability to walk
Spastic gait
Wheelchair
Hyperreflexia in upper limbs
Show more (+4)
n.a.
No
n.a.
n.a.
66
68
n.a.
Cognitive impairment
Peripheral neuropathy on nerve conduction studies
Cerebellar atrophy
Mri spine abnormalities
Mri brain other abnormalities
Impaired vibratory sensation
Babinski sign
Hyperreflexia in upper limbs
Spastic gait
Show more (+6)
n.a.
No
n.a.
n.a.
1
3
n.a.
Hyperreflexia in upper limbs
Abnormality of the bladder
Impaired vibratory sensation
Spasticity, lower limb
Spastic gait
Cognitive impairment
Mri brain other abnormalities
Show more (+4)
n.a.
No
n.a.
n.a.
30
45
n.a.
Babinski sign
Hyperreflexia in upper limbs
Impaired vibratory sensation
Abnormality of the bladder
Spasticity, lower limb
Mri brain other abnormalities
Nerve conduction studies other abnormalities
Spastic gait
Show more (+5)
n.a.
No
n.a.
n.a.
1
9
n.a.
Spasticity, lower limb
Babinski sign
Hyperreflexia in upper limbs
Cognitive impairment
Impaired vibratory sensation
Spastic gait
Show more (+3)
n.a.
No
n.a.
n.a.
n.a.
25
n.a.
Babinski sign
Impaired vibratory sensation
-Lower limb amyotrophy
Spasticity, lower limb
Hyperreflexia in upper limbs
Show more (+2)
n.a.
No
n.a.
n.a.
35
42
n.a.
Mri brain other abnormalities
Hyperreflexia in upper limbs
Impaired vibratory sensation
Babinski sign
Nerve conduction studies other abnormalities
Show more (+2)
n.a.
Yes
n.a.
n.a.
1
16
n.a.
Impaired vibratory sensation
Hyperreflexia in upper limbs
Cerebellar atrophy
Spastic gait
Babinski sign
Mri brain other abnormalities
Spasticity, lower limb
Cognitive impairment
Show more (+5)
n.a.
p.Arg581*: het
No
n.a.
n.a.
n.a.
35
n.a.
Impaired vibratory sensation
Nerve conduction studies other abnormalities
Hyperreflexia in upper limbs
Mri brain other abnormalities
Deafness early onset less 40 years
Show more (+2)
n.a.
No
n.a.
n.a.
50
68
n.a.
Spastic gait
Babinski sign
Mri brain other abnormalities
Hyperreflexia in upper limbs
Peripheral neuropathy on nerve conduction studies
Nerve conduction studies other abnormalities
Impaired vibratory sensation
Show more (+4)
n.a.