McDermott, 2001: 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
GBR
72
77
n.a.
Abnormality of the bladder
Spastic gait
Pes cavus
Spasticity, lower limb
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n.a.
Yes
C
GBR
11
38
n.a.
Spasticity, upper limb
Retinopathy
Peripheral neuropathy on nerve conduction studies
Spasticity, lower limb
Lower limb muscle weakness
Walking aids
Impaired vibratory sensation
Ataxia, limb
Pes cavus
-Lower limb amyotrophy
Nerve conduction studies other abnormalities
Spastic gait
Abnormality of the bladder
Upper limb amyotrophy
Babinski sign
Muscle weakness, upper limb
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n.a.