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