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