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