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